#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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
UTP11L	51118	broad.mit.edu	37	1	38478519	38478519	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr1:38478519A>C	ENST00000373014.4	+	1	106	c.45A>C	c.(43-45)gaA>gaC	p.E15D	UTP11L_ENST00000537711.1_Missense_Mutation_p.E15D	NM_016037.3	NP_057121.2	Q9Y3A2	UTP11_HUMAN	UTP11-like, U3 small nucleolar ribonucleoprotein (yeast)	15					nervous system development (GO:0007399)|positive regulation of apoptotic process (GO:0043065)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleolus (GO:0005730)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GGCAGCGGGAACACAGAGAGC	0.612																																						ENST00000373014.4																			0				NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5						c.(43-45)gaA>gaC		UTP11-like, U3 small nucleolar ribonucleoprotein, (yeast)							78.0	88.0	85.0					1																	38478519		2203	4300	6503	SO:0001583	missense	51118				induction of apoptosis|nerve growth factor receptor signaling pathway|nervous system development|rRNA processing	cytoplasm|extracellular space|nucleolus|small-subunit processome	protein binding	g.chr1:38478519A>C	AF151852	CCDS429.1	1p34.3	2014-03-06	2014-03-06		ENSG00000183520	ENSG00000183520			24329	protein-coding gene	gene with protein product		609440				11860508, 10810093	Standard	NM_016037		Approved	CGI-94	uc001ccn.4	Q9Y3A2	OTTHUMG00000004435	ENST00000373014.4:c.45A>C	1.37:g.38478519A>C	ENSP00000362105:p.Glu15Asp					UTP11L_ENST00000537711.1_Missense_Mutation_p.E15D	p.E15D	NM_016037.3	NP_057121.2	Q9Y3A2	UTP11_HUMAN			1	106	+	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	15					A8K785|B4DJC6|D3DPT7|Q5VT93|Q9BS98|Q9NS31	Missense_Mutation	SNP	ENST00000373014.4	37	c.45A>C	CCDS429.1	.	.	.	.	.	.	.	.	.	.	A	11.02	1.517156	0.27123	.	.	ENSG00000183520	ENST00000373014;ENST00000537711	.	.	.	4.74	3.59	0.41128	.	0.173879	0.52532	D	0.000061	T	0.30135	0.0755	N	0.19112	0.55	0.36776	D	0.884064	B	0.06786	0.001	B	0.12156	0.007	T	0.18935	-1.0321	9	0.13470	T	0.59	-1.4177	5.7541	0.18162	0.8161:0.0:0.1839:0.0	.	15	Q9Y3A2	UTP11_HUMAN	D	15	.	ENSP00000362105:E15D	E	+	3	2	UTP11L	38251106	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	1.269000	0.33074	1.987000	0.57996	0.459000	0.35465	GAA		0.612	UTP11L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012962.1	NM_016037		23	82	23	82	---	---	---	---
BCAS2	10286	broad.mit.edu	37	1	115123932	115123932	+	Nonsense_Mutation	SNP	A	A	C			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr1:115123932A>C	ENST00000369541.3	-	2	221	c.174T>G	c.(172-174)taT>taG	p.Y58*	BCAS2_ENST00000485021.1_5'UTR	NM_005872.2	NP_005863.1	O75934	SPF27_HUMAN	breast carcinoma amplified sequence 2	58					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	cell junction (GO:0030054)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)				biliary_tract(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)	13	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAAAGGCAGAATAATCCGGGG	0.448																																						ENST00000369541.3																			0				biliary_tract(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)	13						c.(172-174)taT>taG		breast carcinoma amplified sequence 2							205.0	207.0	207.0					1																	115123932		2203	4300	6503	SO:0001587	stop_gained	10286				mRNA processing|RNA splicing, via transesterification reactions	nucleolus|spliceosomal complex	protein binding	g.chr1:115123932A>C	AB020623	CCDS874.1	1p13.2	2010-01-25			ENSG00000116752	ENSG00000116752			975	protein-coding gene	gene with protein product		605783				9731529, 10403562	Standard	NM_005872		Approved	DAM1, SPF27, Snt309	uc001efa.3	O75934	OTTHUMG00000011898	ENST00000369541.3:c.174T>G	1.37:g.115123932A>C	ENSP00000358554:p.Tyr58*					BCAS2_ENST00000485021.1_5'UTR	p.Y58*	NM_005872.2	NP_005863.1	O75934	SPF27_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	221	-	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	58					Q6FGS0	Nonsense_Mutation	SNP	ENST00000369541.3	37	c.174T>G	CCDS874.1	.	.	.	.	.	.	.	.	.	.	A	35	5.435783	0.96168	.	.	ENSG00000116752	ENST00000369541	.	.	.	4.63	2.34	0.29019	.	0.106609	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.9975	6.1681	0.20402	0.7088:0.0:0.2912:0.0	.	.	.	.	X	58	.	ENSP00000358554:Y58X	Y	-	3	2	BCAS2	114925455	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.155000	0.42301	0.908000	0.36671	0.451000	0.29950	TAT		0.448	BCAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032871.1	NM_005872		18	178	18	178	---	---	---	---
FLG2	388698	broad.mit.edu	37	1	152324080	152324080	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr1:152324080G>A	ENST00000388718.5	-	3	6254	c.6182C>T	c.(6181-6183)tCa>tTa	p.S2061L	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2061					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAGGATCCTGACTCTCCATG	0.532																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(6181-6183)tCa>tTa		filaggrin family member 2							529.0	471.0	490.0					1																	152324080		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152324080G>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.6182C>T	1.37:g.152324080G>A	ENSP00000373370:p.Ser2061Leu					FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.S2061L	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6254	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2061					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.6182C>T	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.516009	0.64634	.	.	ENSG00000143520	ENST00000388718	T	0.08370	3.1	4.69	2.78	0.32641	.	.	.	.	.	T	0.06554	0.0168	M	0.80982	2.52	0.09310	N	1	P	0.48162	0.906	P	0.46585	0.521	T	0.21314	-1.0249	9	0.44086	T	0.13	.	6.3931	0.21597	0.0991:0.186:0.7149:0.0	.	2061	Q5D862	FILA2_HUMAN	L	2061	ENSP00000373370:S2061L	ENSP00000373370:S2061L	S	-	2	0	FLG2	150590704	0.001000	0.12720	0.049000	0.19019	0.009000	0.06853	0.934000	0.28910	0.691000	0.31592	0.644000	0.83932	TCA		0.532	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		53	485	53	485	---	---	---	---
LCE1C	353133	broad.mit.edu	37	1	152777721	152777721	+	Silent	SNP	G	G	A			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr1:152777721G>A	ENST00000607093.1	-	1	233	c.234C>T	c.(232-234)agC>agT	p.S78S	LCE1C_ENST00000368768.1_Silent_p.S78S			Q5T751	LCE1C_HUMAN	late cornified envelope 1C	78	Gly-rich.				keratinization (GO:0031424)					NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCCTGTGGTGGCTCAGGCAGC	0.706																																						ENST00000368768.1																			0				NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9						c.(232-234)agC>agT		late cornified envelope 1C							32.0	39.0	36.0					1																	152777721		2202	4296	6498	SO:0001819	synonymous_variant	353133				keratinization			g.chr1:152777721G>A		CCDS1026.1	1q21.3	2008-02-05			ENSG00000197084	ENSG00000197084		"""Late cornified envelopes"""	29464	protein-coding gene	gene with protein product		612605				11698679	Standard	NM_001276331		Approved	LEP3	uc001fap.1	Q5T751	OTTHUMG00000012445	ENST00000607093.1:c.234C>T	1.37:g.152777721G>A						LCE1C_ENST00000607093.1_Silent_p.S78S	p.S78S	NM_178351.3	NP_848128.1	Q5T751	LCE1C_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	284	-	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		78			Gly-rich.			Silent	SNP	ENST00000607093.1	37	c.234C>T	CCDS1026.1																																																																																				0.706	LCE1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034658.2	NM_178351		8	63	8	63	---	---	---	---
ZBTB41	360023	broad.mit.edu	37	1	197169426	197169426	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr1:197169426G>A	ENST00000367405.4	-	1	246	c.178C>T	c.(178-180)Cag>Tag	p.Q60*	CRB1_ENST00000535699.1_5'Flank|ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	60					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						AGCTTTCTCTGATCTGGAGAG	0.383																																						ENST00000367405.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						c.(178-180)Cag>Tag		zinc finger and BTB domain containing 41							81.0	86.0	84.0					1																	197169426		2203	4300	6503	SO:0001587	stop_gained	360023				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:197169426G>A		CCDS30960.1	1q31.3	2013-01-08			ENSG00000177888	ENSG00000177888		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24819	protein-coding gene	gene with protein product							Standard	NM_194314		Approved	FRBZ1, FLJ36199, DKFZp686C06120, ZNF924	uc001gtx.1	Q5SVQ8	OTTHUMG00000036275	ENST00000367405.4:c.178C>T	1.37:g.197169426G>A	ENSP00000356375:p.Gln60*					ZBTB41_ENST00000467322.1_5'UTR	p.Q60*	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN			1	246	-			60					A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99	Nonsense_Mutation	SNP	ENST00000367405.4	37	c.178C>T	CCDS30960.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.928611	0.92389	.	.	ENSG00000177888	ENST00000367405	.	.	.	4.96	4.96	0.65561	.	0.000000	0.41605	D	0.000849	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.8909	0.63738	0.0:0.1527:0.8473:0.0	.	.	.	.	X	60	.	ENSP00000356375:Q60X	Q	-	1	0	ZBTB41	195436049	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	4.522000	0.60539	2.265000	0.75225	0.305000	0.20034	CAG		0.383	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088249.2	NM_194314		7	57	7	57	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179449074	179449074	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr2:179449074T>C	ENST00000591111.1	-	261	60505	c.60281A>G	c.(60280-60282)tAt>tGt	p.Y20094C	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Y12795C|TTN_ENST00000460472.2_Missense_Mutation_p.Y12670C|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Y12862C|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.Y21735C|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Y19167C|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20094	Fibronectin type-III 45. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTTAGGGCATAGATTCTGAA	0.428																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(65203-65205)tAt>tGt		titin							116.0	115.0	116.0					2																	179449074		1912	4125	6037	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179449074T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.60281A>G	2.37:g.179449074T>C	ENSP00000465570:p.Tyr20094Cys					TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Y19167C|TTN_ENST00000359218.5_Missense_Mutation_p.Y12795C|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Y12862C|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Y20094C|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Y12670C|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA	p.Y21735C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		311	65428	-			20094			Ig-like 114.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.65204A>G		.	.	.	.	.	.	.	.	.	.	T	11.76	1.735367	0.30774	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	5.97	5.97	0.96955	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.51975	0.1706	N	0.12920	0.275	0.37990	D	0.933892	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	P;P;P;P	0.60173	0.87;0.87;0.87;0.87	T	0.62632	-0.6813	9	0.87932	D	0	.	12.3002	0.54870	0.0:0.0:0.1412:0.8588	.	12670;12795;12862;20094	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	19167;12670;12862;12795;12668	ENSP00000343764:Y19167C;ENSP00000434586:Y12670C;ENSP00000340554:Y12862C;ENSP00000352154:Y12795C	ENSP00000340554:Y12862C	Y	-	2	0	TTN	179157320	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.525000	0.67110	2.283000	0.76528	0.533000	0.62120	TAT		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	97	6	97	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179615125	179615125	+	Intron	SNP	A	A	C			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr2:179615125A>C	ENST00000591111.1	-	45	10585				TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000360870.5_Nonsense_Mutation_p.L4001*|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAAAGAGTTAATATTGAATA	0.333																																						ENST00000360870.5																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(12001-12003)tTa>tGa		titin							132.0	129.0	130.0					2																	179615125		2203	4299	6502	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179615125A>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+2725T>G	2.37:g.179615125A>C						TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA	p.L4001*	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	12224	-			9817					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.12002T>G		.	.	.	.	.	.	.	.	.	.	A	52	20.010234	0.99926	.	.	ENSG00000155657	ENST00000360870	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.7715	0.78173	1.0:0.0:0.0:0.0	.	.	.	.	X	4001	.	ENSP00000354117:L4001X	L	-	2	0	TTN	179323370	1.000000	0.71417	0.745000	0.31077	0.141000	0.21300	8.870000	0.92336	2.186000	0.69663	0.533000	0.62120	TTA		0.333	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	55	5	55	---	---	---	---
NAT6	24142	broad.mit.edu	37	3	50334946	50334946	+	5'UTR	SNP	A	A	C			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr3:50334946A>C	ENST00000443842.1	-	0	756				HYAL3_ENST00000359051.3_Intron|NAT6_ENST00000443094.2_5'UTR|NAT6_ENST00000354862.4_Silent_p.T5T|HYAL3_ENST00000513170.1_Intron|NAT6_ENST00000417393.1_5'UTR|HYAL3_ENST00000336307.1_Intron|HYAL3_ENST00000450982.1_Intron|HYAL3_ENST00000415204.1_Intron			Q93015	NAT6_HUMAN	N-acetyltransferase 6 (GCN5-related)							cytoplasm (GO:0005737)	N-acetyltransferase activity (GO:0008080)			endometrium(3)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CAGGGCTCAGAGTCAGCTCTT	0.602																																						ENST00000354862.4																			0				endometrium(3)|lung(1)|skin(1)	5						c.(13-15)acT>acG		N-acetyltransferase 6 (GCN5-related)							54.0	55.0	55.0					3																	50334946		2128	4247	6375	SO:0001623	5_prime_UTR_variant	24142							g.chr3:50334946A>C	AF040705	CCDS43095.1, CCDS56258.1	3p21.3	2011-11-16	2008-09-24		ENSG00000243477	ENSG00000243477	2.3.1.-		30252	protein-coding gene	gene with protein product		607073	"""N-acetyltransferase 6"""			11929860, 11085536	Standard	NM_012191		Approved	FUS2		Q93015	OTTHUMG00000156939	ENST00000443842.1:c.-52T>G	3.37:g.50334946A>C						HYAL3_ENST00000450982.1_Intron|HYAL3_ENST00000513170.1_Intron|NAT6_ENST00000443094.2_5'UTR|NAT6_ENST00000443842.1_5'UTR|NAT6_ENST00000417393.1_5'UTR|HYAL3_ENST00000415204.1_Intron|HYAL3_ENST00000336307.1_Intron|HYAL3_ENST00000359051.3_Intron	p.T5T	NM_012191.3	NP_036323.2				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	2	216	-								Q93014	Silent	SNP	ENST00000443842.1	37	c.15T>G	CCDS56258.1																																																																																				0.602	NAT6-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346681.1	NM_012191		4	18	4	18	---	---	---	---
CP	1356	broad.mit.edu	37	3	148895640	148895640	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr3:148895640C>A	ENST00000264613.6	-	17	3267	c.3005G>T	c.(3004-3006)aGc>aTc	p.S1002I		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	1002	F5/8 type A 3.|Plastocyanin-like 6.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	GTATTGGAAGCTATGGCCGTG	0.393																																						ENST00000264613.6																			0				breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(3004-3006)aGc>aTc		ceruloplasmin (ferroxidase)	Drotrecogin alfa(DB00055)						212.0	187.0	195.0					3																	148895640		2203	4300	6503	SO:0001583	missense	1356				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	g.chr3:148895640C>A	M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.3005G>T	3.37:g.148895640C>A	ENSP00000264613:p.Ser1002Ile						p.S1002I	NM_000096.3	NP_000087	P00450	CERU_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		17	3267	-		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	1002			F5/8 type A 3.|Plastocyanin-like 6.		Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	ENST00000264613.6	37	c.3005G>T	CCDS3141.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.232041	0.58777	.	.	ENSG00000047457	ENST00000479771;ENST00000264613;ENST00000494544	D;D;D	0.99706	-6.47;-6.47;-6.47	5.6	5.6	0.85130	Cupredoxin (2);Multicopper oxidase, type 2 (1);	0.040310	0.85682	D	0.000000	D	0.99625	0.9863	M	0.67625	2.065	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;0.999	D	0.98333	1.0534	10	0.66056	D	0.02	-24.2106	19.6155	0.95632	0.0:1.0:0.0:0.0	.	1002;1002;1002;715	A8K5A4;P00450;Q1L857;B3KTA8	.;CERU_HUMAN;.;.	I	137;1002;785	ENSP00000420367:S137I;ENSP00000264613:S1002I;ENSP00000420545:S785I	ENSP00000264613:S1002I	S	-	2	0	CP	150378330	1.000000	0.71417	1.000000	0.80357	0.478000	0.33099	2.700000	0.47085	2.629000	0.89072	0.557000	0.71058	AGC		0.393	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096		5	99	5	99	---	---	---	---
LEPREL1	55214	broad.mit.edu	37	3	189702344	189702344	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr3:189702344C>A	ENST00000319332.5	-	7	1421	c.1224G>T	c.(1222-1224)gaG>gaT	p.E408D	LEPREL1_ENST00000427335.2_Missense_Mutation_p.E227D	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	408					collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|peptidyl-proline hydroxylation (GO:0019511)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CTTACCGATTCTCATCCTGTC	0.328																																						ENST00000319332.5																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41						c.(1222-1224)gaG>gaT		leprecan-like 1	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						158.0	149.0	152.0					3																	189702344		2203	4300	6503	SO:0001583	missense	55214				collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	g.chr3:189702344C>A		CCDS3294.1, CCDS46981.1	3q29	2014-01-28			ENSG00000090530	ENSG00000090530	1.14.11.7		19317	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 2"""	610341				15063763, 21885030	Standard	NM_018192		Approved	FLJ10718, MLAT4, P3H2	uc011bsk.2	Q8IVL5	OTTHUMG00000156312	ENST00000319332.5:c.1224G>T	3.37:g.189702344C>A	ENSP00000316881:p.Glu408Asp					LEPREL1_ENST00000427335.2_Missense_Mutation_p.E227D	p.E408D	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	7	1421	-	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		408					B3KPK0|B3KWI9|D3DNV8|Q9NVI2	Missense_Mutation	SNP	ENST00000319332.5	37	c.1224G>T	CCDS3294.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.964186	0.34659	.	.	ENSG00000090530	ENST00000319332;ENST00000427335	T;T	0.37411	1.2;1.52	5.87	0.353	0.16058	.	0.290468	0.39020	N	0.001492	T	0.19765	0.0475	L	0.38838	1.175	0.37362	D	0.91126	B	0.15141	0.012	B	0.16289	0.015	T	0.07252	-1.0782	9	.	.	.	-22.9122	1.8235	0.03116	0.1307:0.3976:0.128:0.3438	.	408	Q8IVL5	P3H2_HUMAN	D	408;227	ENSP00000316881:E408D;ENSP00000408947:E227D	.	E	-	3	2	LEPREL1	191185038	0.971000	0.33674	1.000000	0.80357	0.958000	0.62258	-0.019000	0.12546	0.640000	0.30582	0.655000	0.94253	GAG		0.328	LEPREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343855.1	NM_018192		3	44	3	44	---	---	---	---
EGF	1950	broad.mit.edu	37	4	110864414	110864414	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr4:110864414T>G	ENST00000265171.5	+	3	777	c.332T>G	c.(331-333)gTa>gGa	p.V111G	EGF_ENST00000502723.1_3'UTR|EGF_ENST00000503392.1_Missense_Mutation_p.V111G|EGF_ENST00000509793.1_Missense_Mutation_p.V111G	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	111					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	TTGCAGAGAGTATGTAATATA	0.249																																						ENST00000265171.5																			0				breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(331-333)gTa>gGa		epidermal growth factor	Sulindac(DB00605)						40.0	47.0	45.0					4																	110864414		2194	4286	6480	SO:0001583	missense	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110864414T>G	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.332T>G	4.37:g.110864414T>G	ENSP00000265171:p.Val111Gly					EGF_ENST00000503392.1_Missense_Mutation_p.V111G|EGF_ENST00000502723.1_3'UTR|EGF_ENST00000509793.1_Missense_Mutation_p.V111G	p.V111G	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	3	777	+		Hepatocellular(203;0.0893)	111					B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	ENST00000265171.5	37	c.332T>G	CCDS3689.1	.	.	.	.	.	.	.	.	.	.	T	15.92	2.975650	0.53720	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	T;T;T	0.35973	1.28;1.28;1.28	5.7	5.7	0.88788	Six-bladed beta-propeller, TolB-like (1);	0.182497	0.48286	D	0.000190	T	0.51432	0.1674	M	0.78456	2.415	0.30588	N	0.761787	P;P;P	0.50943	0.901;0.94;0.837	B;P;B	0.49502	0.408;0.613;0.312	T	0.63042	-0.6725	10	0.87932	D	0	.	15.9677	0.79987	0.0:0.0:0.0:1.0	.	111;111;111	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	G	111	ENSP00000424316:V111G;ENSP00000265171:V111G;ENSP00000421384:V111G	ENSP00000265171:V111G	V	+	2	0	EGF	111083863	0.345000	0.24835	0.542000	0.28115	0.977000	0.68977	3.892000	0.56235	2.181000	0.69327	0.533000	0.62120	GTA		0.249	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			11	35	11	35	---	---	---	---
COL9A1	1297	broad.mit.edu	37	6	70961830	70961830	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr6:70961830C>T	ENST00000357250.6	-	28	2023	c.1865G>A	c.(1864-1866)gGg>gAg	p.G622E	COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Missense_Mutation_p.G379E|COL9A1_ENST00000320755.7_Missense_Mutation_p.G379E	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	622	Collagen-like 6.|Triple-helical region (COL2).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CACAGGAAGCCCCTGGGGTCC	0.488																																						ENST00000357250.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						c.(1864-1866)gGg>gAg		collagen, type IX, alpha 1							107.0	120.0	116.0					6																	70961830		2203	4300	6503	SO:0001583	missense	1297				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	g.chr6:70961830C>T		CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.1865G>A	6.37:g.70961830C>T	ENSP00000349790:p.Gly622Glu					COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Missense_Mutation_p.G379E|COL9A1_ENST00000320755.7_Missense_Mutation_p.G379E	p.G622E	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN			28	2023	-			622			Triple-helical region (COL2).		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	ENST00000357250.6	37	c.1865G>A	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.579457	0.46006	.	.	ENSG00000112280	ENST00000357250;ENST00000320755;ENST00000370499	D;D;D	0.99619	-6.28;-5.89;-5.89	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.99837	0.9926	H	0.97491	4.015	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96963	0.9703	10	0.87932	D	0	.	18.2205	0.89899	0.0:1.0:0.0:0.0	.	622;379;195	P20849;P20849-2;B3KWS8	CO9A1_HUMAN;.;.	E	622;379;379	ENSP00000349790:G622E;ENSP00000315252:G379E;ENSP00000359530:G379E	ENSP00000315252:G379E	G	-	2	0	COL9A1	71018551	0.997000	0.39634	0.945000	0.38365	0.140000	0.21249	5.600000	0.67599	2.733000	0.93635	0.655000	0.94253	GGG		0.488	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			4	136	4	136	---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21826345	21826345	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr7:21826345A>G	ENST00000409508.3	+	59	9732	c.9701A>G	c.(9700-9702)aAa>aGa	p.K3234R	DNAH11_ENST00000328843.6_Missense_Mutation_p.K3241R	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3241	Stalk. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGAGTGCCCAAAGACCGAAGT	0.493									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(9721-9723)aAa>aGa		dynein, axonemal, heavy chain 11							153.0	148.0	150.0					7																	21826345		1911	4126	6037	SO:0001583	missense	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21826345A>G	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.9701A>G	7.37:g.21826345A>G	ENSP00000475939:p.Lys3234Arg					DNAH11_ENST00000409508.3_Missense_Mutation_p.K3234R	p.K3241R			Q96DT5	DYH11_HUMAN			60	9753	+			3241			Stalk (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.9722A>G		.	.	.	.	.	.	.	.	.	.	A	20.1	3.932052	0.73442	.	.	ENSG00000105877	ENST00000328843	T	0.79653	-1.29	6.03	3.71	0.42584	Dynein heavy chain, coiled coil stalk (1);	0.265332	0.42964	N	0.000629	T	0.78381	0.4274	.	.	.	0.53005	D	0.999969	P	0.40250	0.709	P	0.45099	0.469	T	0.76061	-0.3097	9	0.41790	T	0.15	.	9.5868	0.39521	0.859:0.0:0.141:0.0	.	3241	Q96DT5	DYH11_HUMAN	R	3241	ENSP00000330671:K3241R	ENSP00000330671:K3241R	K	+	2	0	DNAH11	21792870	1.000000	0.71417	0.891000	0.34965	0.997000	0.91878	4.785000	0.62418	1.113000	0.41760	0.533000	0.62120	AAA		0.493	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		15	94	15	94	---	---	---	---
ELMO1	9844	broad.mit.edu	37	7	36910037	36910037	+	Silent	SNP	G	G	A			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr7:36910037G>A	ENST00000310758.4	-	20	2513	c.1866C>T	c.(1864-1866)tgC>tgT	p.C622C	ELMO1_ENST00000396040.2_Silent_p.C142C|ELMO1_ENST00000442504.1_Silent_p.C622C|ELMO1_ENST00000341056.3_Silent_p.C324C|ELMO1_ENST00000396045.3_Silent_p.C142C|ELMO1_ENST00000448602.1_Silent_p.C622C	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	622	PH.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TCATATGAGGGCAGTCCTTTC	0.433																																						ENST00000310758.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						c.(1864-1866)tgC>tgT		engulfment and cell motility 1							180.0	163.0	169.0					7																	36910037		2203	4300	6503	SO:0001819	synonymous_variant	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:36910037G>A	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.1866C>T	7.37:g.36910037G>A						ELMO1_ENST00000448602.1_Silent_p.C622C|ELMO1_ENST00000341056.3_Silent_p.C324C|ELMO1_ENST00000396045.3_Silent_p.C142C|ELMO1_ENST00000442504.1_Silent_p.C622C|ELMO1_ENST00000396040.2_Silent_p.C142C	p.C622C	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN			20	2513	-			622			PH.		A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Silent	SNP	ENST00000310758.4	37	c.1866C>T	CCDS5449.1																																																																																				0.433	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		6	76	6	76	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100678485	100678485	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr7:100678485C>T	ENST00000306151.4	+	3	3852	c.3788C>T	c.(3787-3789)gCt>gTt	p.A1263V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1263	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTACAACCGCTGAAGGTACC	0.522																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(3787-3789)gCt>gTt		mucin 17, cell surface associated							284.0	275.0	278.0					7																	100678485		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100678485C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.3788C>T	7.37:g.100678485C>T	ENSP00000302716:p.Ala1263Val						p.A1263V	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	3852	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1263			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.3788C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	3.254	-0.152704	0.06585	.	.	ENSG00000169876	ENST00000306151	T	0.02656	4.21	0.632	-0.548	0.11833	.	.	.	.	.	T	0.01730	0.0055	N	0.14661	0.345	0.09310	N	1	B	0.21225	0.053	B	0.15484	0.013	T	0.47898	-0.9081	8	0.29301	T	0.29	.	.	.	.	.	1263	Q685J3	MUC17_HUMAN	V	1263	ENSP00000302716:A1263V	ENSP00000302716:A1263V	A	+	2	0	MUC17	100465205	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	0.570000	0.23653	-0.222000	0.09958	0.134000	0.15878	GCT		0.522	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		84	293	84	293	---	---	---	---
CRYGN	155051	broad.mit.edu	37	7	151127216	151127216	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr7:151127216G>C	ENST00000337323.2	-	4	593	c.467C>G	c.(466-468)tCt>tGt	p.S156C	CRYGN_ENST00000491928.1_3'UTR|RP4-555L14.4_ENST00000465549.1_RNA|CRYGN_ENST00000476631.1_5'UTR	NM_144727.1	NP_653328.1	Q8WXF5	CRGN_HUMAN	crystallin, gamma N	156										central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(1)|lung(4)	8			OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGATTGAAGAGAGCTGCTCAG	0.552																																						ENST00000337323.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(1)|lung(4)	8						c.(466-468)tCt>tGt		crystallin, gamma N							208.0	164.0	179.0					7																	151127216		2203	4300	6503	SO:0001583	missense	155051							g.chr7:151127216G>C	AF445455	CCDS5926.1	7q36.1	2003-02-25			ENSG00000127377	ENSG00000127377			20458	protein-coding gene	gene with protein product		609603					Standard	NM_144727		Approved		uc003wke.3	Q8WXF5	OTTHUMG00000157353	ENST00000337323.2:c.467C>G	7.37:g.151127216G>C	ENSP00000338613:p.Ser156Cys					RP4-555L14.4_ENST00000465549.1_RNA|CRYGN_ENST00000491928.1_3'UTR|CRYGN_ENST00000476631.1_5'UTR	p.S156C	NM_144727.1	NP_653328.1	Q8WXF5	CRGN_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	4	593	-			156					Q496G6	Missense_Mutation	SNP	ENST00000337323.2	37	c.467C>G	CCDS5926.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.560153	0.27827	.	.	ENSG00000127377	ENST00000337323	T	0.80304	-1.36	1.91	-1.6	0.08426	.	0.327625	0.32002	U	0.006725	T	0.54127	0.1839	N	0.08118	0	0.09310	N	1	P	0.47762	0.9	B	0.40602	0.334	T	0.57985	-0.7716	10	0.87932	D	0	.	2.7328	0.05232	0.1716:0.0:0.3441:0.4843	.	156	Q8WXF5	CRGN_HUMAN	C	156	ENSP00000338613:S156C	ENSP00000338613:S156C	S	-	2	0	CRYGN	150758149	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.140000	0.10342	-0.450000	0.07107	-0.314000	0.08810	TCT		0.552	CRYGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348553.1			7	44	7	44	---	---	---	---
LZTS1	11178	broad.mit.edu	37	8	20110914	20110914	+	Silent	SNP	C	C	T			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr8:20110914C>T	ENST00000381569.1	-	3	885	c.528G>A	c.(526-528)cgG>cgA	p.R176R	LZTS1_ENST00000265801.6_Silent_p.R176R|LZTS1_ENST00000522290.1_Silent_p.R176R			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	176					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		ACATGGAGTTCCGGCCGGAGT	0.672																																						ENST00000381569.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(526-528)cgG>cgA		leucine zipper, putative tumor suppressor 1							44.0	49.0	47.0					8																	20110914		2203	4300	6503	SO:0001819	synonymous_variant	11178				cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:20110914C>T	AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"""F37/Esophageal cancer-related gene-coding leucine-zipper motif"""			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.528G>A	8.37:g.20110914C>T						LZTS1_ENST00000265801.6_Silent_p.R176R|LZTS1_ENST00000522290.1_Silent_p.R176R	p.R176R			Q9Y250	LZTS1_HUMAN		Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)	3	885	-			176					D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Silent	SNP	ENST00000381569.1	37	c.528G>A	CCDS6015.1																																																																																				0.672	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214122.1	NM_021020		4	24	4	24	---	---	---	---
LINGO2	158038	broad.mit.edu	37	9	27950458	27950458	+	Missense_Mutation	SNP	C	C	A	rs376001180		TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr9:27950458C>A	ENST00000379992.2	-	6	661	c.212G>T	c.(211-213)aGc>aTc	p.S71I	LINGO2_ENST00000308675.3_Missense_Mutation_p.S71I	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	71						integral component of membrane (GO:0016021)		p.S71N(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		AGGGTTGACGCTTTTTAGCCT	0.438																																						ENST00000379992.2																			2	Substitution - Missense(2)	p.S71N(2)	lung(2)	autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44						c.(211-213)aGc>aTc		leucine rich repeat and Ig domain containing 2							223.0	227.0	225.0					9																	27950458		2203	4300	6503	SO:0001583	missense	158038					integral to membrane		g.chr9:27950458C>A	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.212G>T	9.37:g.27950458C>A	ENSP00000369328:p.Ser71Ile					LINGO2_ENST00000308675.3_Missense_Mutation_p.S71I	p.S71I	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)	6	661	-	Melanoma(11;0.242)	all_neural(11;2.78e-09)	71					A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	ENST00000379992.2	37	c.212G>T	CCDS6524.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.070626	0.36566	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	T;T	0.80393	-1.37;-1.37	5.74	5.74	0.90152	.	0.082273	0.85682	D	0.000000	T	0.76856	0.4046	L	0.52823	1.66	0.40149	D	0.976922	B	0.06786	0.001	B	0.16722	0.016	T	0.70139	-0.4954	9	.	.	.	.	15.3891	0.74729	0.0:0.9316:0.0:0.0684	.	71	Q7L985	LIGO2_HUMAN	I	71	ENSP00000369328:S71I;ENSP00000310126:S71I	.	S	-	2	0	LINGO2	27940458	0.960000	0.32886	0.773000	0.31616	0.930000	0.56654	2.924000	0.48876	2.873000	0.98535	0.561000	0.74099	AGC		0.438	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570		18	171	18	171	---	---	---	---
ZNF462	58499	broad.mit.edu	37	9	109685642	109685642	+	De_novo_Start_OutOfFrame	SNP	A	A	T			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr9:109685642A>T	ENST00000277225.5	+	0	267				ZNF462_ENST00000457913.1_De_novo_Start_OutOfFrame|RP11-508N12.4_ENST00000451160.2_De_novo_Start_OutOfFrame			Q96JM2	ZN462_HUMAN	zinc finger protein 462						chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CAGGTTCCTAATGTGAGAGGC	0.448																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119								zinc finger protein 462							108.0	97.0	101.0					9																	109685642		2203	4300	6503			58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109685642A>T	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.-23A>T	9.37:g.109685642A>T						RP11-508N12.4_ENST00000451160.2_De_novo_Start_OutOfFrame|ZNF462_ENST00000457913.1_De_novo_Start_OutOfFrame				Q96JM2	ZN462_HUMAN			0	267	+								Q5T0T4|Q8N408	Translation_Start_Site	SNP	ENST00000277225.5	37		CCDS35096.1																																																																																				0.448	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		5	49	5	49	---	---	---	---
OR5D18	219438	broad.mit.edu	37	11	55587196	55587196	+	Missense_Mutation	SNP	G	G	T	rs377604728		TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr11:55587196G>T	ENST00000333976.4	+	1	111	c.91G>T	c.(91-93)Gtt>Ttt	p.V31F		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V31F(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				ACTCTTCCTGGTTTTTCTGGC	0.458																																						ENST00000333976.4																			1	Substitution - Missense(1)	p.V31F(1)	lung(1)	NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(91-93)Gtt>Ttt		olfactory receptor, family 5, subfamily D, member 18		G	PHE/VAL	1,4399		0,1,2199	142.0	133.0	136.0		91	-7.3	0.0	11		136	0,8592		0,0,4296	no	missense	OR5D18	NM_001001952.1	50	0,1,6495	TT,TG,GG		0.0,0.0227,0.0077	benign	31/314	55587196	1,12991	2200	4296	6496	SO:0001583	missense	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587196G>T	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.91G>T	11.37:g.55587196G>T	ENSP00000335025:p.Val31Phe						p.V31F	NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN			1	111	+		all_epithelial(135;0.208)	31					Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	c.91G>T	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	14.71	2.616657	0.46736	2.27E-4	0.0	ENSG00000186119	ENST00000333976	T	0.03065	4.06	5.18	-7.34	0.01427	.	1.291300	0.05727	N	0.598924	T	0.04724	0.0128	L	0.46567	1.45	0.09310	N	1	B	0.12630	0.006	B	0.22601	0.04	T	0.45469	-0.9259	10	0.59425	D	0.04	0.0651	12.5148	0.56026	0.2014:0.1117:0.6869:0.0	.	31	Q8NGL1	OR5DI_HUMAN	F	31	ENSP00000335025:V31F	ENSP00000335025:V31F	V	+	1	0	OR5D18	55343772	0.000000	0.05858	0.001000	0.08648	0.882000	0.50991	-3.933000	0.00331	-0.957000	0.03627	-0.375000	0.07067	GTT		0.458	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		4	79	4	79	---	---	---	---
LTBP3	4054	broad.mit.edu	37	11	65314313	65314313	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr11:65314313G>T	ENST00000301873.5	-	15	2454	c.2186C>A	c.(2185-2187)gCc>gAc	p.A729D	LTBP3_ENST00000322147.4_Missense_Mutation_p.A729D|LTBP3_ENST00000532932.1_Missense_Mutation_p.A159D|LTBP3_ENST00000530785.1_5'Flank|LTBP3_ENST00000536982.1_Missense_Mutation_p.A355D|LTBP3_ENST00000529189.1_5'Flank	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	729	Cys-rich.				bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						AGGCTGACAGGCGATGCACTT	0.692																																						ENST00000301873.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						c.(2185-2187)gCc>gAc		latent transforming growth factor beta binding protein 3							46.0	51.0	49.0					11																	65314313		2201	4297	6498	SO:0001583	missense	4054					extracellular region	calcium ion binding|growth factor binding	g.chr11:65314313G>T	AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"""Latent transforming growth factor, beta binding proteins"""	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.2186C>A	11.37:g.65314313G>T	ENSP00000301873:p.Ala729Asp					LTBP3_ENST00000322147.4_Missense_Mutation_p.A729D|LTBP3_ENST00000532932.1_Missense_Mutation_p.A159D|LTBP3_ENST00000536982.1_Missense_Mutation_p.A355D	p.A729D	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN			15	2454	-			729			Cys-rich.		O15107|Q96HB9|Q9H7K2|Q9UFN4	Missense_Mutation	SNP	ENST00000301873.5	37	c.2186C>A	CCDS44647.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.844944	0.51164	.	.	ENSG00000168056	ENST00000322147;ENST00000301873;ENST00000532932;ENST00000536982;ENST00000530866;ENST00000527339	T;T;T;T;T;T	0.21191	2.02;2.02;2.02;2.02;2.02;2.02	4.61	4.61	0.57282	EGF-like calcium-binding (2);	0.426701	0.25302	N	0.031657	T	0.14527	0.0351	N	0.13352	0.335	0.21445	N	0.999688	P;P;B;B;B;B	0.39665	0.571;0.682;0.076;0.213;0.178;0.004	B;B;B;B;B;B	0.43018	0.405;0.204;0.16;0.171;0.107;0.012	T	0.16276	-1.0408	10	0.12430	T	0.62	.	13.335	0.60512	0.0:0.0:1.0:0.0	.	640;355;612;729;729;159	E9PKW1;F5GWC4;B9EG76;Q9NS15;Q9NS15-2;E9PJR2	.;.;.;LTBP3_HUMAN;.;.	D	729;729;159;355;640;69	ENSP00000326647:A729D;ENSP00000301873:A729D;ENSP00000435530:A159D;ENSP00000441912:A355D;ENSP00000435276:A640D;ENSP00000432121:A69D	ENSP00000301873:A729D	A	-	2	0	LTBP3	65070889	0.983000	0.35010	0.942000	0.38095	0.718000	0.41266	1.682000	0.37628	2.288000	0.76882	0.449000	0.29647	GCC		0.692	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390538.1	NM_021070		15	44	15	44	---	---	---	---
RSF1	51773	broad.mit.edu	37	11	77412339	77412339	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr11:77412339T>G	ENST00000308488.6	-	6	2237	c.1935A>C	c.(1933-1935)aaA>aaC	p.K645N	RSF1_ENST00000360355.2_Missense_Mutation_p.K614N|RSF1_ENST00000480887.1_Missense_Mutation_p.K393N			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	645					CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			CTACCACTTCTTTTTCTGAGG	0.438																																						ENST00000308488.6																			0				breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(1933-1935)aaA>aaC		remodeling and spacing factor 1							130.0	134.0	133.0					11																	77412339		2198	4289	6487	SO:0001583	missense	51773				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding	g.chr11:77412339T>G	AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"""Zinc fingers, PHD-type"""	18118	protein-coding gene	gene with protein product		608522	"""hepatitis B virus x associated protein"""	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.1935A>C	11.37:g.77412339T>G	ENSP00000311513:p.Lys645Asn					RSF1_ENST00000360355.2_Missense_Mutation_p.K614N|RSF1_ENST00000480887.1_Missense_Mutation_p.K393N	p.K645N			Q96T23	RSF1_HUMAN	Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)		6	2237	-	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		645					Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Missense_Mutation	SNP	ENST00000308488.6	37	c.1935A>C	CCDS8253.1	.	.	.	.	.	.	.	.	.	.	T	5.935	0.356507	0.11239	.	.	ENSG00000048649	ENST00000308488;ENST00000480887;ENST00000360355;ENST00000526324;ENST00000528095	D;D;D;D;T	0.90620	-2.26;-2.53;-2.26;-2.7;1.11	5.11	-5.1	0.02911	.	0.343078	0.25060	N	0.033445	T	0.80082	0.4558	L	0.32530	0.975	0.27329	N	0.956823	B	0.02656	0.0	B	0.06405	0.002	T	0.65071	-0.6257	10	0.54805	T	0.06	-8.4295	6.275	0.20975	0.22:0.4069:0.0:0.3731	.	645	Q96T23	RSF1_HUMAN	N	645;393;614;446;644	ENSP00000311513:K645N;ENSP00000434509:K393N;ENSP00000353511:K614N;ENSP00000432022:K446N;ENSP00000436408:K644N	ENSP00000311513:K645N	K	-	3	2	RSF1	77089987	0.202000	0.23423	0.029000	0.17559	0.351000	0.29236	-0.394000	0.07296	-0.840000	0.04206	-0.250000	0.11733	AAA		0.438	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2	NM_016578		18	179	18	179	---	---	---	---
CCDC15	80071	broad.mit.edu	37	11	124857123	124857123	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr11:124857123A>G	ENST00000344762.5	+	8	1260	c.1001A>G	c.(1000-1002)gAt>gGt	p.D334G	CCDC15_ENST00000529051.1_Missense_Mutation_p.D334G	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	334						centrosome (GO:0005813)				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		GAAGCCCAGGATTATTTTCTA	0.408																																						ENST00000529051.1																			0				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23						c.(1000-1002)gAt>gGt		coiled-coil domain containing 15							97.0	91.0	93.0					11																	124857123		1801	4077	5878	SO:0001583	missense	80071					centrosome		g.chr11:124857123A>G	BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.1001A>G	11.37:g.124857123A>G	ENSP00000341684:p.Asp334Gly					CCDC15_ENST00000344762.5_Missense_Mutation_p.D334G	p.D334G			Q0P6D6	CCD15_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)	8	1260	+	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	334					Q9H8U7	Missense_Mutation	SNP	ENST00000344762.5	37	c.1001A>G	CCDS44756.1	.	.	.	.	.	.	.	.	.	.	A	12.88	2.069282	0.36470	.	.	ENSG00000149548	ENST00000529051;ENST00000344762	T;T	0.39787	1.12;1.06	3.87	1.39	0.22231	.	1.308790	0.04641	N	0.405393	T	0.38321	0.1036	L	0.40543	1.245	0.26591	N	0.973209	D	0.56035	0.974	P	0.45856	0.495	T	0.25779	-1.0122	10	0.46703	T	0.11	-6.4733	5.5221	0.16938	0.7279:0.1738:0.0983:0.0	.	334	Q0P6D6	CCD15_HUMAN	G	334	ENSP00000435403:D334G;ENSP00000341684:D334G	ENSP00000341684:D334G	D	+	2	0	CCDC15	124362333	0.953000	0.32496	0.702000	0.30337	0.070000	0.16714	1.519000	0.35888	0.277000	0.22141	0.379000	0.24179	GAT		0.408	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	NM_025004		8	60	8	60	---	---	---	---
ERI2	112479	broad.mit.edu	37	16	20811285	20811285	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr16:20811285G>A	ENST00000357967.4	-	7	679	c.637C>T	c.(637-639)Cat>Tat	p.H213Y	ERI2_ENST00000563117.1_Missense_Mutation_p.H120Y|ERI2_ENST00000569729.1_Missense_Mutation_p.H213Y|ERI2_ENST00000564349.1_Missense_Mutation_p.H120Y|ERI2_ENST00000389345.5_5'UTR|ERI2_ENST00000300005.3_Missense_Mutation_p.H213Y	NM_001142725.1	NP_001136197.1	A8K979	ERI2_HUMAN	ERI1 exoribonuclease family member 2	213	Exonuclease.						exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(2)	11						TAACCAGAATGTTCTCGTCCT	0.294																																						ENST00000564349.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(2)	11						c.(358-360)Cat>Tat		ERI1 exoribonuclease family member 2							47.0	50.0	49.0					16																	20811285		2201	4293	6494	SO:0001583	missense	112479					intracellular	exonuclease activity|nucleic acid binding|zinc ion binding	g.chr16:20811285G>A	BC010503	CCDS10590.1, CCDS45436.1	16p12.3	2014-02-18	2009-10-07	2008-12-16	ENSG00000196678	ENSG00000196678		"""Enhanced RNAi three prime mRNA exonucleases"""	30541	protein-coding gene	gene with protein product	"""enhanced RNAi three prime mRNA exonuclease homolog 2 (C.elegans)"", ""exoribonuclease 2"", ""zinc finger, GRF-type containing 5"""		"""exonuclease domain containing 1"""	EXOD1		10819331	Standard	NM_080663		Approved	KIAA1504, MGC16943, ZGRF5	uc010vbb.1	A8K979	OTTHUMG00000131557	ENST00000357967.4:c.637C>T	16.37:g.20811285G>A	ENSP00000350651:p.His213Tyr					ERI2_ENST00000300005.3_Missense_Mutation_p.H213Y|ERI2_ENST00000569729.1_Missense_Mutation_p.H213Y|ERI2_ENST00000563117.1_Missense_Mutation_p.H120Y|ERI2_ENST00000389345.5_5'UTR|ERI2_ENST00000357967.4_Missense_Mutation_p.H213Y	p.H120Y			A8K979	ERI2_HUMAN			8	833	-			213			Exonuclease.		Q6ZSJ2|Q96FR9|Q9P224|Q9Y6V3	Missense_Mutation	SNP	ENST00000357967.4	37	c.358C>T	CCDS45436.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.575630	0.86645	.	.	ENSG00000196678	ENST00000300005;ENST00000357967	D;D	0.94497	-3.44;-3.44	5.94	5.94	0.96194	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	D	0.98018	0.9347	M	0.91818	3.245	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.98185	1.0459	10	0.72032	D	0.01	-16.3897	20.3658	0.98878	0.0:0.0:1.0:0.0	.	213;213;213	A8K979;A8K979-3;A8K979-4	ERI2_HUMAN;.;.	Y	213	ENSP00000300005:H213Y;ENSP00000350651:H213Y	ENSP00000300005:H213Y	H	-	1	0	ERI2	20718786	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.812000	0.91959	2.820000	0.97059	0.650000	0.86243	CAT		0.294	ERI2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_080663		4	43	4	43	---	---	---	---
HOXB13	10481	broad.mit.edu	37	17	46805519	46805519	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr17:46805519A>G	ENST00000290295.7	-	1	1021	c.437T>C	c.(436-438)gTg>gCg	p.V146A	PRAC2_ENST00000422730.2_RNA	NM_006361.5	NP_006352.2	Q92826	HXB13_HUMAN	homeobox B13	146					angiogenesis (GO:0001525)|epidermis development (GO:0008544)|epithelial cell maturation involved in prostate gland development (GO:0060743)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|response to testosterone (GO:0033574)|response to wounding (GO:0009611)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						CACCACAGACACGTCCAGGTA	0.607																																						ENST00000290295.7																			0				endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						c.(436-438)gTg>gCg		homeobox B13							93.0	95.0	94.0					17																	46805519		2203	4300	6503	SO:0001583	missense	10481				angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46805519A>G	U57052	CCDS11536.1	17q21.32	2014-09-17	2005-12-22		ENSG00000159184	ENSG00000159184		"""Homeoboxes / ANTP class : HOXL subclass"""	5112	protein-coding gene	gene with protein product		604607	"""homeo box B13"""			8756292, 9665387	Standard	NM_006361		Approved		uc002ioa.3	Q92826	OTTHUMG00000159900	ENST00000290295.7:c.437T>C	17.37:g.46805519A>G	ENSP00000290295:p.Val146Ala						p.V146A	NM_006361.5	NP_006352.2	Q92826	HXB13_HUMAN			1	1021	-			146					B2R878|Q96QM4|Q99810	Missense_Mutation	SNP	ENST00000290295.7	37	c.437T>C	CCDS11536.1	.	.	.	.	.	.	.	.	.	.	A	19.25	3.791733	0.70452	.	.	ENSG00000159184	ENST00000290295	D	0.91996	-2.95	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	D	0.92928	0.7750	M	0.68952	2.095	0.58432	D	0.999994	D	0.55605	0.972	P	0.51615	0.675	D	0.93033	0.6450	10	0.52906	T	0.07	.	13.1333	0.59395	1.0:0.0:0.0:0.0	.	146	Q92826	HXB13_HUMAN	A	146	ENSP00000290295:V146A	ENSP00000290295:V146A	V	-	2	0	HOXB13	44160518	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.709000	0.91379	1.974000	0.57490	0.379000	0.24179	GTG		0.607	HOXB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358087.3	NM_006361		16	70	16	70	---	---	---	---
SOCS6	9306	broad.mit.edu	37	18	67992626	67992626	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr18:67992626G>T	ENST00000397942.3	+	2	1038	c.722G>T	c.(721-723)tGt>tTt	p.C241F	SOCS6_ENST00000582322.1_Missense_Mutation_p.C241F	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	241					defense response (GO:0006952)|JAK-STAT cascade (GO:0007259)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell activation (GO:0050868)|proteasomal protein catabolic process (GO:0010498)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|immunological synapse (GO:0001772)				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				CGGAGCTATTGTCTGGACAGC	0.517																																					Melanoma(84;1024 1361 24382 36583 42651)	ENST00000397942.3																			0				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22						c.(721-723)tGt>tTt		suppressor of cytokine signaling 6							97.0	80.0	86.0					18																	67992626		2203	4300	6503	SO:0001583	missense	9306				defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm		g.chr18:67992626G>T	AB006968	CCDS11998.1	18q22	2013-02-14	2004-02-25	2004-02-27	ENSG00000170677	ENSG00000170677		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16833	protein-coding gene	gene with protein product		605118	"""suppressor of cytokine signaling 4"""	SOCS4		9344848, 11042152	Standard	NM_004232		Approved	CIS4, SSI4, HSPC060, STATI4, STAI4, Cish4	uc002lkr.1	O14544	OTTHUMG00000132816	ENST00000397942.3:c.722G>T	18.37:g.67992626G>T	ENSP00000381034:p.Cys241Phe					SOCS6_ENST00000582322.1_Missense_Mutation_p.C241F	p.C241F	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN			2	1038	+		Esophageal squamous(42;0.129)|Colorectal(73;0.152)	241					Q8WUM3	Missense_Mutation	SNP	ENST00000397942.3	37	c.722G>T	CCDS11998.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.566612	0.65651	.	.	ENSG00000170677	ENST00000397942	T	0.28666	1.6	5.0	5.0	0.66597	.	0.777423	0.11736	N	0.534487	T	0.33673	0.0871	L	0.42245	1.32	0.80722	D	1	P	0.48016	0.904	B	0.41571	0.36	T	0.35226	-0.9797	10	0.66056	D	0.02	-12.8871	18.3063	0.90182	0.0:0.0:1.0:0.0	.	241	O14544	SOCS6_HUMAN	F	241	ENSP00000381034:C241F	ENSP00000381034:C241F	C	+	2	0	SOCS6	66143606	1.000000	0.71417	0.958000	0.39756	0.884000	0.51177	9.273000	0.95719	2.309000	0.77851	0.561000	0.74099	TGT		0.517	SOCS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256270.2			3	33	3	33	---	---	---	---
ZBED4	9889	broad.mit.edu	37	22	50278227	50278227	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chr22:50278227G>A	ENST00000216268.5	+	2	1394	c.917G>A	c.(916-918)tGc>tAc	p.C306Y		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	306						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		AAAGCTGTCTGCATTCACTGC	0.582																																						ENST00000216268.5																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(916-918)tGc>tAc		zinc finger, BED-type containing 4							88.0	90.0	89.0					22																	50278227		2203	4300	6503	SO:0001583	missense	9889					cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity	g.chr22:50278227G>A	AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"""Zinc fingers, BED-type"""	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.917G>A	22.37:g.50278227G>A	ENSP00000216268:p.Cys306Tyr						p.C306Y	NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)	2	1394	+		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)						B2RZH1|Q1ECU0|Q9UGG8	Missense_Mutation	SNP	ENST00000216268.5	37	c.917G>A	CCDS33677.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.686987	0.68157	.	.	ENSG00000100426	ENST00000216268	D	0.86865	-2.18	5.41	5.41	0.78517	Zinc finger, BED-type predicted (3);	0.000000	0.85682	D	0.000000	D	0.94778	0.8314	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95118	0.8244	10	0.87932	D	0	-34.7242	19.3865	0.94557	0.0:0.0:1.0:0.0	.	306	O75132	ZBED4_HUMAN	Y	306	ENSP00000216268:C306Y	ENSP00000216268:C306Y	C	+	2	0	ZBED4	48664231	1.000000	0.71417	0.967000	0.41034	0.314000	0.28054	8.772000	0.91757	2.818000	0.97014	0.650000	0.86243	TGC		0.582	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2	NM_014838		4	84	4	84	---	---	---	---
DCAF12L1	139170	broad.mit.edu	37	X	125685212	125685212	+	Silent	SNP	G	G	A			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chrX:125685212G>A	ENST00000371126.1	-	1	1622	c.1380C>T	c.(1378-1380)ggC>ggT	p.G460G		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	460										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						AGCTCCAGAGGCCTGCATAGT	0.537																																						ENST00000371126.1																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(1378-1380)ggC>ggT		DDB1 and CUL4 associated factor 12-like 1							64.0	65.0	65.0					X																	125685212		2203	4300	6503	SO:0001819	synonymous_variant	139170							g.chrX:125685212G>A	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.1380C>T	X.37:g.125685212G>A							p.G460G	NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN			1	1622	-			460					Q8IYK3	Silent	SNP	ENST00000371126.1	37	c.1380C>T	CCDS14610.1																																																																																				0.537	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		3	33	3	33	---	---	---	---
PDK3	5165	broad.mit.edu	37	X	24545741	24545741	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chrX:24545741delC	ENST00000379162.4	+	8	1036	c.801delC	c.(799-801)tacfs	p.Y267fs	PDK3_ENST00000441463.2_Frame_Shift_Del_p.Y267fs	NM_005391.4	NP_005382.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3	267	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cell death (GO:0008219)|cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to glucose stimulus (GO:0071333)|glucose metabolic process (GO:0006006)|hypoxia-inducible factor-1alpha signaling pathway (GO:0097411)|peptidyl-serine phosphorylation (GO:0018105)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of glucose metabolic process (GO:0010906)|regulation of reactive oxygen species metabolic process (GO:2000377)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						AAGAGGGCTACCCTGCTGTTA	0.338																																						ENST00000441463.2																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(799-801)tacfs		pyruvate dehydrogenase kinase, isozyme 3							93.0	79.0	84.0					X																	24545741		2203	4300	6503	SO:0001589	frameshift_variant	5165				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chrX:24545741delC	L42452	CCDS14212.1, CCDS48088.1	Xp22.12	2008-02-05	2005-11-16		ENSG00000067992	ENSG00000067992			8811	protein-coding gene	gene with protein product		300906	"""pyruvate dehydrogenase kinase, isoenzyme 3"""			7499431	Standard	NM_001142386		Approved		uc004dbh.3	Q15120	OTTHUMG00000021269	ENST00000379162.4:c.801delC	X.37:g.24545741delC	ENSP00000368460:p.Tyr267fs					PDK3_ENST00000379162.4_Frame_Shift_Del_p.Y267fs	p.Y267fs	NM_001142386.2	NP_001135858.1	Q15120	PDK3_HUMAN			8	801	+			267			Histidine kinase.		B4DXG6	Frame_Shift_Del	DEL	ENST00000379162.4	37	c.801delC	CCDS14212.1																																																																																				0.338	PDK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056097.1	NM_005391		2	4	2	4	---	---	---	---
SASH3	54440	broad.mit.edu	37	X	128927061	128927061	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7218-01B-11D-A32B-08	TCGA-EJ-7218-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45c03982-3401-4737-b89c-b3a16aa6a7f4	1d53564b-d57c-4616-8950-9277fe4e08e5	g.chrX:128927061C>A	ENST00000356892.3	+	7	1012	c.898C>A	c.(898-900)Cca>Aca	p.P300T	RP4-753P9.3_ENST00000432513.1_RNA	NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	300	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				homeostasis of number of cells within a tissue (GO:0048873)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of organ growth (GO:0046622)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tumor necrosis factor production (GO:0032760)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						CATCATGGATCCACAGCACCG	0.587																																						ENST00000356892.3																			0				breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						c.(898-900)Cca>Aca		SAM and SH3 domain containing 3							95.0	76.0	82.0					X																	128927061		2203	4300	6503	SO:0001583	missense	54440							g.chrX:128927061C>A	BC051881	CCDS14614.1	Xq26	2013-01-10	2008-02-18	2008-02-18	ENSG00000122122	ENSG00000122122		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	15975	protein-coding gene	gene with protein product		300441	"""chromosome X open reading frame 9"""	CXorf9		11470164	Standard	NM_018990		Approved	SLY, 753P9, SH3D6C, HACS2	uc004euu.3	O75995	OTTHUMG00000022372	ENST00000356892.3:c.898C>A	X.37:g.128927061C>A	ENSP00000349359:p.Pro300Thr						p.P300T	NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN			7	1012	+			300			SAM.		A6NCH1|A8K7K8|Q5JZ38	Missense_Mutation	SNP	ENST00000356892.3	37	c.898C>A	CCDS14614.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.384748	0.82792	.	.	ENSG00000122122	ENST00000443760;ENST00000356892	D	0.84146	-1.81	5.8	5.8	0.92144	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.000000	0.85682	D	0.000000	D	0.92792	0.7708	M	0.82056	2.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.99	D	0.92961	0.6389	10	0.56958	D	0.05	-16.7932	18.6504	0.91429	0.0:1.0:0.0:0.0	.	318;300	B4DKQ0;O75995	.;SASH3_HUMAN	T	318;300	ENSP00000349359:P300T	ENSP00000349359:P300T	P	+	1	0	SASH3	128754742	1.000000	0.71417	0.992000	0.48379	0.939000	0.58152	5.932000	0.70121	2.448000	0.82819	0.600000	0.82982	CCA		0.587	SASH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058208.1	NM_018990		3	32	3	32	---	---	---	---
