#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
LRIG2	9860	broad.mit.edu	37	1	113616160	113616160	+	Silent	SNP	C	C	G			TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chr1:113616160C>G	ENST00000361127.5	+	1	330	c.132C>G	c.(130-132)ccC>ccG	p.P44P	RP11-31F15.2_ENST00000421157.1_lincRNA	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	44	LRRNT.				innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		GTCTCTGCCCCGCGCCCTGCT	0.657											OREG0013684	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001edf.1		NA																	0				ovary(3)	3						c.(130-132)CCC>CCG		leucine-rich repeats and immunoglobulin-like							88.0	102.0	97.0					1																	113616160		2203	4300	6503	SO:0001819	synonymous_variant	9860					cytoplasm|integral to membrane|plasma membrane		g.chr1:113616160C>G	AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"""Immunoglobulin superfamily / I-set domain containing"""	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.132C>G	1.37:g.113616160C>G			OREG0013684	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1451	LRIG2_uc009wgn.1_5'UTR|uc001ede.1_5'Flank	p.P44P	NM_014813	NP_055628	O94898	LRIG2_HUMAN		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)	1	330	+	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)	44			LRRNT.|Extracellular (Potential).		Q9NSN2	Silent	SNP	ENST00000361127.5	37	c.132C>G	CCDS30808.1																																																																																				0.657	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	NM_014813		7	206	0	0	0	0	7	206				
IL6R	3570	broad.mit.edu	37	1	154407116	154407116	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chr1:154407116G>A	ENST00000368485.3	+	4	1017	c.580G>A	c.(580-582)Gtc>Atc	p.V194I	IL6R_ENST00000344086.4_Missense_Mutation_p.V194I	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	194	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				acute-phase response (GO:0006953)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|endocrine pancreas development (GO:0031018)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatic immune response (GO:0002384)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of interleukin-8 production (GO:0032717)|neutrophil mediated immunity (GO:0002446)|positive regulation of activation of Janus kinase activity (GO:0010536)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|response to cytokine (GO:0034097)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)|plasma membrane (GO:0005886)	ciliary neurotrophic factor binding (GO:0070119)|cytokine receptor activity (GO:0004896)|enzyme binding (GO:0019899)|interleukin-6 binding (GO:0019981)|protein homodimerization activity (GO:0042803)	p.V194I(1)	IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)		Tocilizumab(DB06273)	GTCCATGTGCGTCGCCAGTAG	0.532																																						uc001fez.1		NA																	1	Substitution - Missense(1)	p.V194I(1)	ovary(1)	ovary(3)|breast(1)	4						c.(580-582)GTC>ATC		interleukin 6 receptor isoform 1 precursor							110.0	113.0	112.0					1																	154407116		2203	4300	6503	SO:0001583	missense	3570				acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity	g.chr1:154407116G>A	X12830	CCDS1067.1, CCDS1068.1, CCDS72927.1	1q21	2013-01-11			ENSG00000160712	ENSG00000160712		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6019	protein-coding gene	gene with protein product		147880					Standard	NM_000565		Approved	CD126	uc001fez.2	P08887	OTTHUMG00000036073	ENST00000368485.3:c.580G>A	1.37:g.154407116G>A	ENSP00000357470:p.Val194Ile					IL6R_uc001ffa.1_Missense_Mutation_p.V194I	p.V194I	NM_000565	NP_000556	P08887	IL6RA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		4	1017	+	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		194			Extracellular (Potential).		A8KAE8|B2R6V4|Q16202|Q53EQ7|Q5FWG2|Q5VZ23	Missense_Mutation	SNP	ENST00000368485.3	37	c.580G>A	CCDS1067.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.332759	0.41297	.	.	ENSG00000160712	ENST00000368485;ENST00000344086	D;D	0.85629	-2.01;-2.01	4.83	2.89	0.33648	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.420518	0.20773	N	0.085921	T	0.72374	0.3452	L	0.36672	1.1	0.09310	N	1	P;P	0.50272	0.933;0.8	P;P	0.51453	0.573;0.67	T	0.65051	-0.6262	10	0.52906	T	0.07	-26.9414	6.4766	0.22039	0.0988:0.1838:0.7174:0.0	.	194;194	P08887-2;P08887	.;IL6RA_HUMAN	I	194	ENSP00000357470:V194I;ENSP00000340589:V194I	ENSP00000340589:V194I	V	+	1	0	IL6R	152673740	0.266000	0.24112	0.021000	0.16686	0.034000	0.12701	1.384000	0.34396	0.701000	0.31803	0.655000	0.94253	GTC		0.532	IL6R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087911.1	NM_000565		6	159	0	0	0	0	6	159				
DCAF6	55827	broad.mit.edu	37	1	167906205	167906205	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chr1:167906205T>C	ENST00000312263.6	+	1	260	c.56T>C	c.(55-57)cTc>cCc	p.L19P	MPC2_ENST00000367846.4_5'Flank|DCAF6_ENST00000367843.3_Missense_Mutation_p.L19P|DCAF6_ENST00000432587.2_Missense_Mutation_p.L19P|MPC2_ENST00000271373.4_5'UTR|DCAF6_ENST00000367840.3_Missense_Mutation_p.L19P|DCAF6_ENST00000470919.1_Intron	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	19					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						AAAAGGTCCCTCGGGCTGGAG	0.721																																						uc001gew.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(55-57)CTC>CCC		IQ motif and WD repeats 1 isoform b							23.0	23.0	23.0					1																	167906205		2201	4299	6500	SO:0001583	missense	55827				positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity	g.chr1:167906205T>C	AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30002	protein-coding gene	gene with protein product		610494	"""IQ motif and WD repeats 1"""	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.56T>C	1.37:g.167906205T>C	ENSP00000311949:p.Leu19Pro					BRP44_uc001ges.2_5'Flank|BRP44_uc001get.2_5'UTR|BRP44_uc001geu.2_Intron|BRP44_uc009wvn.2_5'Flank|DCAF6_uc001gev.2_Missense_Mutation_p.L19P|DCAF6_uc001gex.2_Missense_Mutation_p.L19P|DCAF6_uc010plk.1_Missense_Mutation_p.L19P	p.L19P	NM_001017977	NP_001017977	Q58WW2	DCAF6_HUMAN			1	298	+			19					A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Missense_Mutation	SNP	ENST00000312263.6	37	c.56T>C	CCDS30933.1	.	.	.	.	.	.	.	.	.	.	T	15.41	2.824100	0.50739	.	.	ENSG00000143164	ENST00000367843;ENST00000432587;ENST00000312263;ENST00000367840	D;T;D;D	0.82711	-1.64;-0.24;-1.63;-1.62	3.39	3.39	0.38822	WD40/YVTN repeat-like-containing domain (1);	0.154599	0.43747	D	0.000533	T	0.76723	0.4027	N	0.19112	0.55	0.30070	N	0.810103	D;B;B;B	0.65815	0.995;0.037;0.31;0.208	D;B;B;B	0.72982	0.979;0.008;0.1;0.134	T	0.79766	-0.1665	9	0.56958	D	0.05	.	9.6857	0.40098	0.0:0.0:0.0:1.0	.	19;19;19;19	B4DNB8;Q58WW2-3;Q58WW2;Q58WW2-2	.;.;DCAF6_HUMAN;.	P	19	ENSP00000356817:L19P;ENSP00000396238:L19P;ENSP00000311949:L19P;ENSP00000356814:L19P	ENSP00000311949:L19P	L	+	2	0	DCAF6	166172829	0.999000	0.42202	0.997000	0.53966	0.986000	0.74619	3.861000	0.56002	1.519000	0.48950	0.454000	0.30748	CTC		0.721	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083661.2	NM_018442		3	23	0	0	0	0	3	23				
ZBTB18	10472	broad.mit.edu	37	1	244217659	244217659	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chr1:244217659C>T	ENST00000358704.4	+	2	732	c.583C>T	c.(583-585)Cga>Tga	p.R195*		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1	Q99592	ZBT18_HUMAN	zinc finger and BTB domain containing 18	186				KLNILPSKRDLAAEPGNMWMRLPSDSAGIPQAGGEAEPHAT AAGKTVASPCSSTESLSQRSVTSVRDSADVDCVLDLSVKSS LSGVENLNSSYFSSQ -> IEHPAQQKGLGGRAWEHVDAIA LRLSRHPPGWRRGRATRHSSWKNSSQPLQLNRVFVPE (in Ref. 1; AAA81368). {ECO:0000305}.	cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron development (GO:0048666)|regulation of cell division (GO:0051302)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R186*(2)									CATGTGGATGCGATTGCCCTC	0.572																																						uc001iae.2		NA																	2	Substitution - Nonsense(2)		ovary(1)|endometrium(1)	ovary(3)|pancreas(2)	5						c.(556-558)CGA>TGA		zinc finger protein 238 isoform 2							51.0	57.0	55.0					1																	244217659		2203	4300	6503	SO:0001587	stop_gained	10472				negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:244217659C>T	U38896	CCDS1622.1	1q44	2013-09-19	2013-01-09	2013-01-09	ENSG00000179456	ENSG00000179456		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13030	protein-coding gene	gene with protein product		608433	"""zinc finger protein 238"""	ZNF238		9568537, 9013868	Standard	NM_205768		Approved	C2H2-171, TAZ-1, RP58	uc031psv.1	Q99592	OTTHUMG00000040013	ENST00000358704.4:c.583C>T	1.37:g.244217659C>T	ENSP00000351539:p.Arg195*					ZNF238_uc001iad.3_Nonsense_Mutation_p.R195*|ZNF238_uc001iaf.1_Nonsense_Mutation_p.R186*	p.R186*	NM_006352	NP_006343	Q99592	ZN238_HUMAN	all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223)		1	1078	+	all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123)		186	KLNILPSKRDLAAEPGNMWMRLPSDSAGIPQAGGEAEPHAT AAGKTVASPCSSTESLSQRSVTSVRDSADVDCVLDLSVKSS LSGVENLNSSYFSSQ -> IEHPAQQKGLGGRAWEHVDAIA LRLSRHPPGWRRGRATRHSSWKNSSQPLQLNRVFVPE (in Ref. 1; AAA81368).				A8K5U3|Q13397|Q5VU40|Q8N463|Q9UD99	Nonsense_Mutation	SNP	ENST00000358704.4	37	c.556C>T	CCDS1622.1	.	.	.	.	.	.	.	.	.	.	C	36	5.620197	0.96660	.	.	ENSG00000179456	ENST00000366538;ENST00000358704	.	.	.	5.28	4.28	0.50868	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	12.685	0.56942	0.2894:0.7106:0.0:0.0	.	.	.	.	X	195	.	ENSP00000351539:R195X	R	+	1	2	ZNF238	242284282	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.816000	0.38992	2.475000	0.83589	0.650000	0.86243	CGA		0.572	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096513.2	NM_205768		7	74	0	0	0	0	7	74				
ASCL3	56676	broad.mit.edu	37	11	8959494	8959494	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chr11:8959494C>T	ENST00000531618.1	-	1	264	c.215G>A	c.(214-216)tGc>tAc	p.C72Y	ASCL3_ENST00000325884.1_Missense_Mutation_p.C72Y			Q9NQ33	ASCL3_HUMAN	achaete-scute family bHLH transcription factor 3	71					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)			breast(1)|large_intestine(2)|lung(5)|stomach(1)	9				Epithelial(150;1.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0228)		AGAGAAGGGGCAGGGTTCACT	0.577																																						uc001mhd.1		NA																	0					0						c.(214-216)TGC>TAC		ASCL3							61.0	64.0	63.0					11																	8959494		2201	4295	6496	SO:0001583	missense	56676				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleolus	DNA binding	g.chr11:8959494C>T	AJ400877	CCDS7795.1	11p15.3	2013-10-17	2013-10-17			ENSG00000176009		"""Basic helix-loop-helix proteins"""	740	protein-coding gene	gene with protein product		609154	"""achaete-scute complex (Drosophila) homolog-like 3"", ""achaete-scute complex homolog 3 (Drosophila)"""			11528127	Standard	NM_020646		Approved	bHLHa42, HASH3, Sgn1	uc001mhd.1	Q9NQ33	OTTHUMG00000165679	ENST00000531618.1:c.215G>A	11.37:g.8959494C>T	ENSP00000435770:p.Cys72Tyr						p.C72Y	NM_020646	NP_065697	Q9NQ33	ASCL3_HUMAN		Epithelial(150;1.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0228)	2	275	-			71					Q8WYQ6	Missense_Mutation	SNP	ENST00000531618.1	37	c.215G>A	CCDS7795.1	.	.	.	.	.	.	.	.	.	.	C	1.207	-0.630734	0.03584	.	.	ENSG00000176009	ENST00000325884;ENST00000531618	D;D	0.97256	-4.31;-4.31	5.72	3.77	0.43336	.	0.478425	0.21645	N	0.071264	D	0.91307	0.7259	N	0.20986	0.625	0.27805	N	0.942346	B	0.12630	0.006	B	0.08055	0.003	T	0.78833	-0.2048	10	0.07644	T	0.81	-7.2624	9.0293	0.36249	0.0:0.8231:0.0:0.1769	.	71	Q9NQ33	ASCL3_HUMAN	Y	72	ENSP00000318846:C72Y;ENSP00000435770:C72Y	ENSP00000318846:C72Y	C	-	2	0	ASCL3	8916070	0.903000	0.30736	0.990000	0.47175	0.930000	0.56654	0.295000	0.19065	0.695000	0.31675	0.650000	0.86243	TGC		0.577	ASCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385773.1			6	77	0	0	0	0	6	77				
FJX1	24147	broad.mit.edu	37	11	35640755	35640755	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chr11:35640755G>A	ENST00000317811.4	+	1	1021	c.571G>A	c.(571-573)Gag>Aag	p.E191K		NM_014344.3	NP_055159.2	Q86VR8	FJX1_HUMAN	four jointed box 1 (Drosophila)	191					retina layer formation (GO:0010842)	extracellular space (GO:0005615)		p.E191K(2)		lung(1)|urinary_tract(1)	2	all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739)	all_hematologic(20;0.107)				GATTCAGGGCGAGGCCCTGTC	0.731																																					Melanoma(161;10 2587 27165 47356)	uc001mwh.2		NA																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(571-573)GAG>AAG		four jointed box 1 precursor							7.0	9.0	9.0					11																	35640755		1714	3700	5414	SO:0001583	missense	24147					extracellular space		g.chr11:35640755G>A	AJ245599	CCDS44570.1	11p13	2012-05-18				ENSG00000179431			17166	protein-coding gene	gene with protein product	"""putative secreted ligand homologous to fjx1"""	612206				7647465, 10072791	Standard	NM_014344		Approved	FLJ22416, FLJ25593	uc001mwh.3	Q86VR8		ENST00000317811.4:c.571G>A	11.37:g.35640755G>A	ENSP00000400223:p.Glu191Lys						p.E191K	NM_014344	NP_055159	Q86VR8	FJX1_HUMAN			1	1021	+	all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739)	all_hematologic(20;0.107)	191					B2RCA9|Q9UGK6	Missense_Mutation	SNP	ENST00000317811.4	37	c.571G>A	CCDS44570.1	.	.	.	.	.	.	.	.	.	.	G	31	5.068811	0.93950	.	.	ENSG00000179431	ENST00000317811	T	0.51574	0.7	4.23	4.23	0.50019	.	.	.	.	.	T	0.67363	0.2885	M	0.75085	2.285	0.49582	D	0.999803	D	0.89917	1.0	D	0.78314	0.991	T	0.72773	-0.4192	9	0.87932	D	0	-8.0281	14.1062	0.65091	0.0:0.0:1.0:0.0	.	191	Q86VR8	FJX1_HUMAN	K	191	ENSP00000400223:E191K	ENSP00000400223:E191K	E	+	1	0	FJX1	35597331	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.529000	0.90602	1.893000	0.54813	0.462000	0.41574	GAG		0.731	FJX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389078.1	NM_014344		7	25	0	0	0	0	7	25				
AMBRA1	55626	broad.mit.edu	37	11	46564921	46564921	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chr11:46564921C>T	ENST00000458649.2	-	7	1064	c.646G>A	c.(646-648)Gat>Aat	p.D216N	AMBRA1_ENST00000528950.1_Missense_Mutation_p.D216N|AMBRA1_ENST00000298834.3_Missense_Mutation_p.D216N|AMBRA1_ENST00000534300.1_Missense_Mutation_p.D216N|AMBRA1_ENST00000533727.1_Missense_Mutation_p.D216N|AMBRA1_ENST00000314845.3_Missense_Mutation_p.D216N|AMBRA1_ENST00000426438.1_Missense_Mutation_p.D216N			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	216					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		TCTGTTCCATCTATGGGGATC	0.542																																						uc010rgu.1		NA																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(646-648)GAT>AAT		activating molecule in beclin-1-regulated							128.0	93.0	105.0					11																	46564921		2201	4299	6500	SO:0001583	missense	55626				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle		g.chr11:46564921C>T	AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	25990	protein-coding gene	gene with protein product	"""WD repeat domain 94"", ""DDB1 and CUL4 associated factor 3"""	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.646G>A	11.37:g.46564921C>T	ENSP00000415327:p.Asp216Asn					AMBRA1_uc010rgt.1_5'Flank|AMBRA1_uc009ylc.1_Missense_Mutation_p.D216N|AMBRA1_uc001ncu.1_Missense_Mutation_p.D216N|AMBRA1_uc001ncv.2_Missense_Mutation_p.D216N|AMBRA1_uc001ncw.2_Missense_Mutation_p.D216N|AMBRA1_uc001ncx.2_Missense_Mutation_p.D216N	p.D216N	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN		GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)	7	1006	-			216					A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Missense_Mutation	SNP	ENST00000458649.2	37	c.646G>A		.	.	.	.	.	.	.	.	.	.	C	19.69	3.875232	0.72180	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000314823;ENST00000458649;ENST00000528950	T;T;T;T;T;T;T	0.70631	-0.35;-0.5;-0.22;-0.35;-0.22;-0.33;-0.35	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.77638	0.4160	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D;D	0.89917	0.997;1.0;1.0;0.996;0.998;0.996	D;D;D;D;D;D	0.87578	0.989;0.998;0.998;0.993;0.995;0.993	T	0.72377	-0.4312	10	0.25106	T	0.35	.	20.3398	0.98759	0.0:1.0:0.0:0.0	.	216;216;216;216;216;216	Q9C0C7;Q9C0C7-3;Q9C0C7-2;G3V193;Q9C0C7-5;Q9C0C7-4	AMRA1_HUMAN;.;.;.;.;.	N	216	ENSP00000318313:D216N;ENSP00000433372:D216N;ENSP00000431926:D216N;ENSP00000410899:D216N;ENSP00000298834:D216N;ENSP00000415327:D216N;ENSP00000433945:D216N	ENSP00000298834:D216N	D	-	1	0	AMBRA1	46521497	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.696000	0.84270	2.811000	0.96726	0.557000	0.71058	GAT		0.542	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	NM_017749		16	98	0	0	0	0	16	98				
OR4A16	81327	broad.mit.edu	37	11	55111250	55111250	+	Missense_Mutation	SNP	T	T	A	rs371307813		TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chr11:55111250T>A	ENST00000314721.2	+	1	624	c.574T>A	c.(574-576)Ttt>Att	p.F192I		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	192						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TGACACCTACTTTATAGGACT	0.423																																						uc010rie.1		NA																	0				large_intestine(2)|pancreas(1)	3						c.(574-576)TTT>ATT		olfactory receptor, family 4, subfamily A,							266.0	234.0	245.0					11																	55111250		2201	4296	6497	SO:0001583	missense	81327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55111250T>A	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"""GPCR / Class A : Olfactory receptors"""	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.574T>A	11.37:g.55111250T>A	ENSP00000325128:p.Phe192Ile						p.F192I	NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN			1	574	+			192			Extracellular (Potential).		Q6IFL3	Missense_Mutation	SNP	ENST00000314721.2	37	c.574T>A	CCDS31499.1	.	.	.	.	.	.	.	.	.	.	t	2.209	-0.381116	0.05000	.	.	ENSG00000181961	ENST00000314721	T	0.00030	8.9	2.54	1.21	0.21127	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00039	0.0001	N	0.02103	-0.685	0.19575	N	0.999963	B	0.13594	0.008	B	0.21360	0.034	T	0.00391	-1.1769	9	0.16896	T	0.51	.	5.8967	0.18943	0.2334:0.0:0.0:0.7665	.	192	Q8NH70	O4A16_HUMAN	I	192	ENSP00000325128:F192I	ENSP00000325128:F192I	F	+	1	0	OR4A16	54867826	0.000000	0.05858	0.978000	0.43139	0.150000	0.21749	-2.184000	0.01254	1.167000	0.42706	0.346000	0.21813	TTT		0.423	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		7	145	0	0	0	0	7	145				
TIGD3	220359	broad.mit.edu	37	11	65124576	65124576	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chr11:65124576G>A	ENST00000309880.5	+	2	1504	c.1297G>A	c.(1297-1299)Gat>Aat	p.D433N		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	433						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						CACCAAAGCTGATGCCCTCCG	0.562																																						uc001odo.3		NA																	0					0						c.(1297-1299)GAT>AAT		tigger transposable element derived 3							84.0	82.0	83.0					11																	65124576		2201	4297	6498	SO:0001583	missense	220359				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr11:65124576G>A		CCDS8101.1	11q13.1	2008-07-21				ENSG00000173825			18334	protein-coding gene	gene with protein product							Standard	NM_145719		Approved		uc001odo.4	Q6B0B8		ENST00000309880.5:c.1297G>A	11.37:g.65124576G>A	ENSP00000308354:p.Asp433Asn						p.D433N	NM_145719	NP_663771	Q6B0B8	TIGD3_HUMAN			2	1460	+			433						Missense_Mutation	SNP	ENST00000309880.5	37	c.1297G>A	CCDS8101.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.058073	0.36277	.	.	ENSG00000173825	ENST00000309880	T	0.17370	2.28	4.09	4.09	0.47781	.	0.227351	0.22328	N	0.061513	T	0.13927	0.0337	L	0.29908	0.895	0.30475	N	0.772938	P	0.34522	0.455	B	0.34301	0.179	T	0.08411	-1.0723	10	0.72032	D	0.01	-6.9717	12.5783	0.56375	0.0:0.0:1.0:0.0	.	433	Q6B0B8	TIGD3_HUMAN	N	433	ENSP00000308354:D433N	ENSP00000308354:D433N	D	+	1	0	TIGD3	64881152	1.000000	0.71417	0.821000	0.32701	0.264000	0.26372	4.287000	0.59001	2.252000	0.74401	0.456000	0.33151	GAT		0.562	TIGD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387310.1	NM_145719		12	109	0	0	0	0	12	109				
PELI3	246330	broad.mit.edu	37	11	66238754	66238754	+	Missense_Mutation	SNP	G	G	A	rs541571878		TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chr11:66238754G>A	ENST00000320740.7	+	4	426	c.266G>A	c.(265-267)cGa>cAa	p.R89Q	PELI3_ENST00000349459.6_Missense_Mutation_p.R65Q|PELI3_ENST00000524466.1_Missense_Mutation_p.R89Q|CTD-3074O7.5_ENST00000527092.1_RNA|CTD-3074O7.5_ENST00000602951.1_RNA|PELI3_ENST00000531856.1_Intron	NM_001243136.1|NM_145065.2	NP_001230065.1|NP_659502.2	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	89					defense response to Gram-negative bacterium (GO:0050829)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Toll signaling pathway (GO:0045751)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon production (GO:0032480)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|protein K63-linked ubiquitination (GO:0070534)|regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070428)|Toll signaling pathway (GO:0008063)	cytosol (GO:0005829)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.R89Q(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						GGCCGCCGGCGAAGCCGCCTG	0.597													G|||	1	0.000199681	0.0008	0.0	5008	,	,		12020	0.0		0.0	False		,,,				2504	0.0					uc001oic.3		NA																	1	Substitution - Missense(1)		breast(1)	ovary(1)	1						c.(265-267)CGA>CAA		pellino 3 alpha isoform 1							72.0	81.0	78.0					11																	66238754		2200	4295	6495	SO:0001583	missense	246330					cytosol	protein binding	g.chr11:66238754G>A	AL834395	CCDS31615.1, CCDS41675.1, CCDS73328.1	11q13.2	2012-02-23	2012-02-23		ENSG00000174516	ENSG00000174516		"""Pellino homologs"""	30010	protein-coding gene	gene with protein product		609827	"""pellino homolog 3 (Drosophila)"""			12874243, 15917247	Standard	NM_145065		Approved	MGC35521	uc001oic.4	Q8N2H9	OTTHUMG00000167109	ENST00000320740.7:c.266G>A	11.37:g.66238754G>A	ENSP00000322532:p.Arg89Gln					PELI3_uc001oib.2_Missense_Mutation_p.R89Q|PELI3_uc001oid.3_Missense_Mutation_p.R65Q|PELI3_uc001oie.3_5'UTR|PELI3_uc010rpd.1_5'Flank	p.R89Q	NM_145065	NP_659502	Q8N2H9	PELI3_HUMAN			4	430	+			89					Q8N3E1|Q8N9Q6|Q8TAW7|Q8TED5	Missense_Mutation	SNP	ENST00000320740.7	37	c.266G>A	CCDS31615.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.038870	0.93630	.	.	ENSG00000174516	ENST00000349459;ENST00000320740;ENST00000524466;ENST00000527230	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.27	5.27	0.74061	.	0.000000	0.64402	D	0.000002	T	0.56411	0.1983	L	0.55213	1.73	0.46149	D	0.998897	D;D;D	0.64830	0.967;0.99;0.994	B;P;P	0.58928	0.388;0.657;0.848	T	0.56547	-0.7961	10	0.54805	T	0.06	-9.5914	9.7476	0.40457	0.0907:0.0:0.9093:0.0	.	65;89;89	Q8N2H9-2;Q8N2H9;Q8N2H9-4	.;PELI3_HUMAN;.	Q	65;89;89;89	ENSP00000309848:R65Q;ENSP00000322532:R89Q;ENSP00000434677:R89Q;ENSP00000432449:R89Q	ENSP00000322532:R89Q	R	+	2	0	PELI3	65995330	0.986000	0.35501	1.000000	0.80357	0.995000	0.86356	1.231000	0.32624	2.735000	0.93741	0.655000	0.94253	CGA		0.597	PELI3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393226.1	NM_145065		6	184	0	0	0	0	6	184				
ATN1	1822	broad.mit.edu	37	12	7044927	7044927	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chr12:7044927C>G	ENST00000356654.4	+	5	734	c.497C>G	c.(496-498)cCt>cGt	p.P166R	ATN1_ENST00000396684.2_Missense_Mutation_p.P166R	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	166					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CCACTCTTTCCTCCTTCCCCT	0.592																																						uc001qrw.1		NA																	0				ovary(2)|breast(2)|pancreas(1)|skin(1)	6						c.(496-498)CCT>CGT		atrophin-1							114.0	105.0	108.0					12																	7044927		2203	4300	6503	SO:0001583	missense	1822				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	g.chr12:7044927C>G	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.497C>G	12.37:g.7044927C>G	ENSP00000349076:p.Pro166Arg					ATN1_uc001qrx.1_Missense_Mutation_p.P166R|ATN1_uc001qry.1_Missense_Mutation_p.P165R	p.P166R	NM_001007026	NP_001007027	P54259	ATN1_HUMAN			5	734	+			166					Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	ENST00000356654.4	37	c.497C>G	CCDS31734.1	.	.	.	.	.	.	.	.	.	.	c	13.21	2.168758	0.38315	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325	T;T;T	0.76448	-1.02;-1.02;-1.02	3.66	3.66	0.41972	.	0.568893	0.13175	U	0.407926	T	0.62270	0.2414	N	0.08118	0	0.35303	D	0.783245	P;B	0.41978	0.767;0.218	B;B	0.39971	0.315;0.063	T	0.69756	-0.5059	10	0.32370	T	0.25	.	15.941	0.79754	0.0:1.0:0.0:0.0	.	166;166	Q86V38;P54259	.;ATN1_HUMAN	R	166	ENSP00000349076:P166R;ENSP00000379915:P166R;ENSP00000441744:P166R	ENSP00000349076:P166R	P	+	2	0	ATN1	6915188	0.923000	0.31300	1.000000	0.80357	0.867000	0.49689	2.278000	0.43426	2.054000	0.61138	0.454000	0.30748	CCT		0.592	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		4	149	0	0	0	0	4	149				
PRICKLE1	144165	broad.mit.edu	37	12	42854281	42854281	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chr12:42854281G>A	ENST00000455697.1	-	8	2111	c.1826C>T	c.(1825-1827)cCt>cTt	p.P609L	PRICKLE1_ENST00000548696.1_Missense_Mutation_p.P609L|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.P609L|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.P609L|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.P609L|RP11-328C8.4_ENST00000547824.1_RNA	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	609					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		CTTCTCTTCAGGCAGGATTTT	0.463																																						uc010skv.1		NA																	0				ovary(3)|skin(1)	4						c.(1825-1827)CCT>CTT		prickle homolog 1							118.0	114.0	115.0					12																	42854281		2203	4300	6503	SO:0001583	missense	144165				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding	g.chr12:42854281G>A	AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"""prickle-like 1 (Drosophila)"""			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.1826C>T	12.37:g.42854281G>A	ENSP00000401060:p.Pro609Leu					PRICKLE1_uc001rnl.2_Missense_Mutation_p.P609L|PRICKLE1_uc010skw.1_Missense_Mutation_p.P609L|PRICKLE1_uc001rnm.2_Missense_Mutation_p.P609L|PRICKLE1_uc001rnk.1_5'Flank	p.P609L	NM_001144881	NP_001138353	Q96MT3	PRIC1_HUMAN		GBM - Glioblastoma multiforme(48;0.2)	8	2113	-	all_cancers(12;4.25e-05)|Breast(8;0.176)		609					Q14C83|Q71QF8|Q96N00	Missense_Mutation	SNP	ENST00000455697.1	37	c.1826C>T	CCDS8742.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.433830	0.43224	.	.	ENSG00000139174	ENST00000455697;ENST00000445766;ENST00000548696;ENST00000345127;ENST00000552240	T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15	5.53	5.53	0.82687	.	0.102392	0.64402	D	0.000002	T	0.50120	0.1597	L	0.29908	0.895	0.58432	D	0.999999	P	0.39282	0.666	B	0.30401	0.115	T	0.52124	-0.8617	10	0.39692	T	0.17	5.4597	19.8228	0.96604	0.0:0.0:1.0:0.0	.	609	Q96MT3	PRIC1_HUMAN	L	609	ENSP00000401060:P609L;ENSP00000398947:P609L;ENSP00000448359:P609L;ENSP00000345064:P609L;ENSP00000449819:P609L	ENSP00000345064:P609L	P	-	2	0	PRICKLE1	41140548	0.996000	0.38824	0.520000	0.27837	0.992000	0.81027	4.915000	0.63355	2.759000	0.94783	0.650000	0.86243	CCT		0.463	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404069.1			5	111	0	0	0	0	5	111				
ASIC1	41	broad.mit.edu	37	12	50472360	50472360	+	Splice_Site	SNP	G	G	A			TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chr12:50472360G>A	ENST00000447966.2	+	6	1223	c.994G>A	c.(994-996)Ggg>Agg	p.G332R	ASIC1_ENST00000228468.4_Splice_Site_p.G332R|ASIC1_ENST00000552438.1_Splice_Site_p.G366R	NM_001095.3	NP_001086.2	P78348	ASIC1_HUMAN	acid-sensing (proton-gated) ion channel 1	332					associative learning (GO:0008306)|calcium ion transmembrane transport (GO:0070588)|cellular response to pH (GO:0071467)|ion transmembrane transport (GO:0034220)|memory (GO:0007613)|negative regulation of neurotransmitter secretion (GO:0046929)|protein homotrimerization (GO:0070207)|regulation of membrane potential (GO:0042391)|response to acidic pH (GO:0010447)|response to pH (GO:0009268)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acid-sensing ion channel activity (GO:0044736)|ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)									Amiloride(DB00594)|Diclofenac(DB00586)	GCACATGCCAGGTCAGGCCTG	0.592																																						uc001rvw.2		NA																	0				ovary(1)	1						c.(994-996)GGG>AGG		amiloride-sensitive cation channel 2, neuronal	Amiloride(DB00594)						119.0	119.0	119.0					12																	50472360		2203	4300	6503	SO:0001630	splice_region_variant	41				calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr12:50472360G>A	U78181	CCDS8796.1, CCDS44876.1, CCDS58228.1	12q12	2012-02-23	2012-02-22	2012-02-22		ENSG00000110881		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	100	protein-coding gene	gene with protein product		602866	"""amiloride-sensitive cation channel 2, neuronal"""	ACCN2		9037075	Standard	NM_001095		Approved	BNaC2, hBNaC2	uc001rvv.4	P78348	OTTHUMG00000169812	ENST00000447966.2:c.994+1G>A	12.37:g.50472360G>A						ACCN2_uc001rvv.2_Missense_Mutation_p.G332R|ACCN2_uc009zln.2_Missense_Mutation_p.G123R|ACCN2_uc009zlo.2_Missense_Mutation_p.G332R	p.G332R	NM_001095	NP_001086	P78348	ACCN2_HUMAN			6	1223	+			332			Extracellular (By similarity).		A3KN86|E5KBL7|P78349|Q96CV2	Missense_Mutation	SNP	ENST00000447966.2	37	c.994G>A	CCDS44876.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.915244	0.92178	.	.	ENSG00000110881	ENST00000228468;ENST00000447966;ENST00000552438	T;T;T	0.64618	-0.11;-0.11;-0.11	3.82	3.82	0.43975	.	0.067277	0.64402	D	0.000019	D	0.83524	0.5273	M	0.93016	3.37	0.80722	D	1	D;D	0.89917	1.0;0.985	D;P	0.91635	0.999;0.891	D	0.88479	0.3067	10	0.87932	D	0	-24.8548	17.0278	0.86452	0.0:0.0:1.0:0.0	.	332;332	P78348;P78348-1	ACCN2_HUMAN;.	R	332;332;366	ENSP00000228468:G332R;ENSP00000400228:G332R;ENSP00000450247:G366R	ENSP00000228468:G332R	G	+	1	0	ACCN2	48758627	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.584000	0.98220	2.414000	0.81942	0.462000	0.41574	GGG		0.592	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406004.2	NM_020039	Missense_Mutation	4	131	0	0	0	0	4	131				
TRPM1	4308	broad.mit.edu	37	15	31362283	31362283	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chr15:31362283G>T	ENST00000256552.6	-	4	377	c.230C>A	c.(229-231)tCc>tAc	p.S77Y	TRPM1_ENST00000542188.1_Missense_Mutation_p.S94Y|TRPM1_ENST00000397795.2_Missense_Mutation_p.S55Y|TRPM1_ENST00000559179.1_Missense_Mutation_p.S55Y	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		AACTCCATAGGAATCTGTTGG	0.483																																						uc001zfm.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(163-165)TCC>TAC		transient receptor potential cation channel,							379.0	363.0	368.0					15																	31362283		1937	4146	6083	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31362283G>T	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.230C>A	15.37:g.31362283G>T	ENSP00000256552:p.Ser77Tyr					TRPM1_uc010azy.2_5'Flank|TRPM1_uc001zfl.2_5'Flank|TRPM1_uc001zfn.3_Missense_Mutation_p.S55Y|uc010ubn.1_RNA	p.S55Y	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	3	292	-		all_lung(180;1.92e-11)	55			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000256552.6	37	c.164C>A	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.743613	0.89663	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.61510	0.1;0.1;0.1	5.73	5.73	0.89815	.	0.290920	0.27927	U	0.017283	T	0.75019	0.3793	M	0.62723	1.935	0.45150	D	0.998165	D;B	0.69078	0.997;0.375	D;B	0.69479	0.964;0.304	T	0.75584	-0.3267	10	0.87932	D	0	-10.1601	20.2699	0.98469	0.0:0.0:1.0:0.0	.	55;55	Q6PE48;Q7Z4N2	.;TRPM1_HUMAN	Y	55;94;77;55	ENSP00000380897:S55Y;ENSP00000437849:S94Y;ENSP00000256552:S77Y	ENSP00000256552:S77Y	S	-	2	0	TRPM1	29149575	1.000000	0.71417	0.147000	0.22382	0.948000	0.59901	9.312000	0.96287	2.854000	0.98071	0.655000	0.94253	TCC		0.483	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		12	557	1	0	2.27e-07	6.1e-07	12	557				
ZNF780B	163131	broad.mit.edu	37	19	40540672	40540672	+	Silent	SNP	T	T	A			TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chr19:40540672T>A	ENST00000434248.1	-	5	2159	c.2094A>T	c.(2092-2094)gtA>gtT	p.V698V	ZNF780B_ENST00000221355.6_Silent_p.V550V	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	698					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					ACTCCTTACATACAAAGGGTT	0.388																																						uc002omu.2		NA																	0				ovary(1)|pancreas(1)	2						c.(2092-2094)GTA>GTT		zinc finger protein 780B							72.0	78.0	76.0					19																	40540672		2183	4294	6477	SO:0001819	synonymous_variant	163131				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40540672T>A	AK127063	CCDS46077.1	19q13.2	2013-01-08	2006-08-15	2006-08-15	ENSG00000128000	ENSG00000128000		"""Zinc fingers, C2H2-type"", ""-"""	33109	protein-coding gene	gene with protein product			"""zinc finger protein 779"""	ZNF779			Standard	NM_001005851		Approved		uc002omu.3	Q9Y6R6	OTTHUMG00000155118	ENST00000434248.1:c.2094A>T	19.37:g.40540672T>A						ZNF780B_uc002omv.2_Silent_p.V550V	p.V698V	NM_001005851	NP_001005851	Q9Y6R6	Z780B_HUMAN			5	2159	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		698			C2H2-type 20.		B9EH00	Silent	SNP	ENST00000434248.1	37	c.2094A>T	CCDS46077.1																																																																																				0.388	ZNF780B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338466.1	NM_001005851		10	137	0	0	0	0	10	137				
DOK1	1796	broad.mit.edu	37	2	74783609	74783609	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chr2:74783609G>C	ENST00000233668.5	+	5	1483	c.814G>C	c.(814-816)Ggg>Cgg	p.G272R	LOXL3_ENST00000393937.2_5'Flank|M1AP_ENST00000464686.1_5'Flank|LOXL3_ENST00000264094.3_5'Flank|DOK1_ENST00000409429.1_Missense_Mutation_p.G133R|DOK1_ENST00000340004.6_3'UTR|DOK1_ENST00000480318.1_3'UTR|LOXL3_ENST00000409986.1_5'Flank	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN	docking protein 1, 62kDa (downstream of tyrosine kinase 1)	272					cell surface receptor signaling pathway (GO:0007166)|insulin receptor signaling pathway (GO:0008286)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor signaling protein activity (GO:0005057)			endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						CTCCCATGAAGGGGAGGTGGC	0.612																																					Esophageal Squamous(36;520 860 12502 33616 51270)	uc002sms.2		NA																	0					0						c.(814-816)GGG>CGG		docking protein 1							59.0	59.0	59.0					2																	74783609		2203	4300	6503	SO:0001583	missense	1796				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding	g.chr2:74783609G>C	U70987	CCDS1954.1, CCDS56125.1	2p13	2008-05-21	2002-08-29		ENSG00000115325	ENSG00000115325			2990	protein-coding gene	gene with protein product		602919	"""docking protein 1, 62kD (downstream of tyrosine kinase 1)"""			9008160, 9790776, 15546884	Standard	NM_001381		Approved	p62dok	uc002sms.3	Q99704	OTTHUMG00000129956	ENST00000233668.5:c.814G>C	2.37:g.74783609G>C	ENSP00000233668:p.Gly272Arg					LOXL3_uc002smp.1_5'Flank|LOXL3_uc002smq.1_5'Flank|LOXL3_uc010ffn.1_5'Flank|DOK1_uc002smr.2_Missense_Mutation_p.G133R|DOK1_uc010ffo.2_Missense_Mutation_p.G133R|DOK1_uc002smt.2_Missense_Mutation_p.G58R|DOK1_uc002smu.2_Missense_Mutation_p.G58R|DOK1_uc010yrz.1_Missense_Mutation_p.G261R|DOK1_uc002smv.2_Missense_Mutation_p.G133R|DOK1_uc002smw.1_Missense_Mutation_p.G58R	p.G272R	NM_001381	NP_001372	Q99704	DOK1_HUMAN			5	836	+			272					O43204|Q53TY2|Q9UHG6	Missense_Mutation	SNP	ENST00000233668.5	37	c.814G>C	CCDS1954.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.177279	0.38413	.	.	ENSG00000115325	ENST00000409429;ENST00000233668	T;T	0.31510	1.49;1.5	4.52	4.52	0.55395	.	0.510211	0.16881	N	0.195716	T	0.24431	0.0592	L	0.44542	1.39	0.43868	D	0.996476	B;B	0.29162	0.147;0.235	B;B	0.25405	0.06;0.06	T	0.03384	-1.1042	10	0.14656	T	0.56	-22.9374	12.6031	0.56509	0.0:0.0:1.0:0.0	.	261;272	B4DJN1;Q99704	.;DOK1_HUMAN	R	133;272	ENSP00000387016:G133R;ENSP00000233668:G272R	ENSP00000233668:G272R	G	+	1	0	DOK1	74637117	0.000000	0.05858	0.922000	0.36590	0.312000	0.27988	0.505000	0.22642	2.323000	0.78572	0.561000	0.74099	GGG		0.612	DOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252218.3	NM_001381		4	91	0	0	0	0	4	91				
TIAM1	7074	broad.mit.edu	37	21	32502548	32502548	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chr21:32502548C>G	ENST00000286827.3	-	26	4499	c.4028G>C	c.(4027-4029)cGa>cCa	p.R1343P	TIAM1_ENST00000541036.1_Missense_Mutation_p.R1283P	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1343	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R1343L(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CGCCAAAGCTCGAACCTGCAG	0.483																																						uc002yow.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						c.(4027-4029)CGA>CCA		T-cell lymphoma invasion and metastasis 1							173.0	171.0	172.0					21																	32502548		2203	4300	6503	SO:0001583	missense	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32502548C>G		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.4028G>C	21.37:g.32502548C>G	ENSP00000286827:p.Arg1343Pro					TIAM1_uc011adk.1_Missense_Mutation_p.R1343P|TIAM1_uc011adl.1_Missense_Mutation_p.R1283P	p.R1343P	NM_003253	NP_003244	Q13009	TIAM1_HUMAN			26	4500	-			1343			PH 2.		B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.4028G>C	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.601882	0.87055	.	.	ENSG00000156299	ENST00000286827;ENST00000541036	T;T	0.55760	0.5;0.51	6.03	6.03	0.97812	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.73946	0.3652	M	0.76328	2.33	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;P;P	0.68039	0.955;0.902;0.902	T	0.74805	-0.3540	10	0.87932	D	0	.	20.5666	0.99351	0.0:1.0:0.0:0.0	.	1283;1283;1343	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	P	1343;1283	ENSP00000286827:R1343P;ENSP00000441570:R1283P	ENSP00000286827:R1343P	R	-	2	0	TIAM1	31424419	1.000000	0.71417	0.998000	0.56505	0.773000	0.43773	7.465000	0.80898	2.854000	0.98071	0.655000	0.94253	CGA		0.483	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		3	214	0	0	0	0	3	214				
DEPDC5	9681	broad.mit.edu	37	22	32289633	32289633	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chr22:32289633C>G	ENST00000382112.3	+	38	4142	c.4072C>G	c.(4072-4074)Ctg>Gtg	p.L1358V	DEPDC5_ENST00000539165.1_Missense_Mutation_p.L184V|DEPDC5_ENST00000535622.1_Missense_Mutation_p.L1267V|DEPDC5_ENST00000382111.2_Missense_Mutation_p.L1367V|DEPDC5_ENST00000400246.1_Missense_Mutation_p.L1367V|DEPDC5_ENST00000382105.2_3'UTR|DEPDC5_ENST00000266091.3_Missense_Mutation_p.L1345V|DEPDC5_ENST00000400249.2_Missense_Mutation_p.L1336V|DEPDC5_ENST00000400248.2_Missense_Mutation_p.L1336V	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	1367					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CACAGACCGGCTGGAGTGGTG	0.557																																						uc003als.2		NA																	0				ovary(4)|central_nervous_system(3)|pancreas(1)	8						c.(4006-4008)CTG>GTG		DEP domain containing 5 isoform 1							83.0	92.0	89.0					22																	32289633		2038	4191	6229	SO:0001583	missense	9681				intracellular signal transduction			g.chr22:32289633C>G	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.4072C>G	22.37:g.32289633C>G	ENSP00000371546:p.Leu1358Val					DEPDC5_uc011als.1_Missense_Mutation_p.L1267V|DEPDC5_uc011alu.1_Missense_Mutation_p.L1367V|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.L1358V|DEPDC5_uc003alu.2_Missense_Mutation_p.L785V|DEPDC5_uc003alv.2_RNA|DEPDC5_uc003alw.2_Missense_Mutation_p.L634V|DEPDC5_uc011alx.1_Missense_Mutation_p.L184V|DEPDC5_uc010gwk.2_Missense_Mutation_p.L362V|DEPDC5_uc011aly.1_Missense_Mutation_p.L184V	p.L1336V	NM_014662	NP_055477	O75140	DEPD5_HUMAN			38	4148	+			1336					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	c.4006C>G	CCDS46692.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.37|12.37	1.919058|1.919058	0.33908|0.33908	.|.	.|.	ENSG00000100150|ENSG00000100150	ENST00000433147|ENST00000535622;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382112;ENST00000382111;ENST00000400248;ENST00000539165	.|T;T;T;T;T;T;T	.|0.29397	.|1.57;1.99;1.99;1.98;1.99;1.98;1.99	4.99|4.99	3.98|3.98	0.46160|0.46160	.|.	.|0.184928	.|0.38005	.|N	.|0.001849	T|T	0.20740|0.20740	0.0499|0.0499	N|N	0.19112|0.19112	0.55|0.55	0.33633|0.33633	D|D	0.606343|0.606343	.|B;P;P;B;B;B	.|0.38827	.|0.329;0.518;0.649;0.4;0.278;0.278	.|B;B;B;B;B;B	.|0.39840	.|0.113;0.214;0.311;0.173;0.084;0.084	T|T	0.24835|0.24835	-1.0149|-1.0149	5|10	.|0.21014	.|T	.|0.42	.|.	12.4161|12.4161	0.55494|0.55494	0.0:0.9187:0.0:0.0813|0.0:0.9187:0.0:0.0813	.|.	.|1367;1267;753;1345;1358;1336	.|B9EGN9;B4DH93;O75140-7;O75140-4;A8MPX9;O75140	.|.;.;.;.;.;DEPD5_HUMAN	G|V	742|1267;1345;1336;1267;1367;1358;1367;1336;184	.|ENSP00000440210:L1267V;ENSP00000266091:L1345V;ENSP00000383108:L1336V;ENSP00000383105:L1367V;ENSP00000371546:L1358V;ENSP00000371545:L1367V;ENSP00000383107:L1336V	.|ENSP00000266091:L1345V	A|L	+|+	2|1	0|2	DEPDC5|DEPDC5	30619633|30619633	0.527000|0.527000	0.26306|0.26306	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	1.130000|1.130000	0.31393|0.31393	1.103000|1.103000	0.41568|0.41568	-0.251000|-0.251000	0.11542|0.11542	GCT|CTG		0.557	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		5	59	0	0	0	0	5	59				
CCDC80	151887	broad.mit.edu	37	3	112324348	112324348	+	Silent	SNP	G	G	A			TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chr3:112324348G>A	ENST00000206423.3	-	8	3722	c.2769C>T	c.(2767-2769)taC>taT	p.Y923Y	CCDC80_ENST00000439685.2_Silent_p.Y923Y	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	923					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						GGTAACTATGGTAACCATAGC	0.463																																						uc003dzf.2		NA																	0				ovary(2)	2						c.(2767-2769)TAC>TAT		steroid-sensitive protein 1 precursor							114.0	99.0	104.0					3																	112324348		2203	4300	6503	SO:0001819	synonymous_variant	151887							g.chr3:112324348G>A	AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"""steroid sensitive gene 1"""	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.2769C>T	3.37:g.112324348G>A						CCDC80_uc011bhv.1_Silent_p.Y896Y|CCDC80_uc003dzg.2_Silent_p.Y923Y	p.Y923Y	NM_199512	NP_955806	Q76M96	CCD80_HUMAN			8	2987	-			923					D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Silent	SNP	ENST00000206423.3	37	c.2769C>T	CCDS2968.1																																																																																				0.463	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511		4	83	0	0	0	0	4	83				
SOX2	6657	broad.mit.edu	37	3	181430843	181430843	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chr3:181430843C>T	ENST00000325404.1	+	1	1122	c.695C>T	c.(694-696)aCc>aTc	p.T232I	SOX2_ENST00000431565.2_Missense_Mutation_p.T232I	NM_003106.3	NP_003097.1	P48431	SOX2_HUMAN	SRY (sex determining region Y)-box 2	232					adenohypophysis development (GO:0021984)|cell cycle arrest (GO:0007050)|cerebral cortex development (GO:0021987)|chromatin organization (GO:0006325)|detection of mechanical stimulus involved in equilibrioception (GO:0050973)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|diencephalon morphogenesis (GO:0048852)|endodermal cell fate specification (GO:0001714)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|eye development (GO:0001654)|forebrain development (GO:0030900)|forebrain neuron differentiation (GO:0021879)|glial cell fate commitment (GO:0021781)|inner ear development (GO:0048839)|inner ear morphogenesis (GO:0042472)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|male genitalia development (GO:0030539)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate commitment (GO:0048663)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|osteoblast differentiation (GO:0001649)|pigment biosynthetic process (GO:0046148)|pituitary gland development (GO:0021983)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|response to growth factor (GO:0070848)|response to retinoic acid (GO:0032526)|response to wounding (GO:0009611)|retina morphogenesis in camera-type eye (GO:0060042)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)			CAGCAGGGCACCCCTGGCATG	0.642			A		"""NSCLC, oesophageal squamous carcinoma"""		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME																															uc003fkx.2		NA		Dom	yes		3	3q26.3-q27	6657	A	SRY (sex determining region Y)-box 2	yes	MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME	E			NSCLC|oesophageal squamous carcinoma		0					0	GRCh37	CM081821	SOX2	M		c.(694-696)ACC>ATC		sex-determining region Y-box 2							70.0	58.0	62.0					3																	181430843		2203	4300	6503	SO:0001583	missense	6657				cell cycle arrest|chromatin organization|eye development|glial cell fate commitment|inner ear development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell proliferation|negative regulation of neuron differentiation|osteoblast differentiation|pituitary gland development|positive regulation of MAPKKK cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of caspase activity|response to growth factor stimulus|response to wounding|somatic stem cell maintenance	cytosol|transcription factor complex	miRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr3:181430843C>T	BC013923	CCDS3239.1	3q26.3-q27	2014-09-17						"""SRY (sex determining region Y)-boxes"""	11195	protein-coding gene	gene with protein product		184429				7849401	Standard	NM_003106		Approved		uc003fkx.3	P48431		ENST00000325404.1:c.695C>T	3.37:g.181430843C>T	ENSP00000323588:p.Thr232Ile					SOX2OT_uc003fkv.2_Intron|SOX2OT_uc003fkw.3_Intron	p.T232I	NM_003106	NP_003097	P48431	SOX2_HUMAN	all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)		1	1122	+	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		232					Q14537	Missense_Mutation	SNP	ENST00000325404.1	37	c.695C>T	CCDS3239.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.817797	0.32145	.	.	ENSG00000181449	ENST00000431565;ENST00000325404	D;D	0.83075	-1.68;-1.68	5.34	4.46	0.54185	.	0.235568	0.43579	D	0.000547	T	0.77890	0.4198	L	0.43152	1.355	0.54753	D	0.999985	B	0.18968	0.032	B	0.15484	0.013	T	0.73193	-0.4060	10	0.38643	T	0.18	.	15.3795	0.74641	0.0:0.8601:0.1399:0.0	.	232	P48431	SOX2_HUMAN	I	232	ENSP00000439111:T232I;ENSP00000323588:T232I	ENSP00000323588:T232I	T	+	2	0	SOX2	182913537	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	5.899000	0.69846	1.357000	0.45904	0.591000	0.81541	ACC		0.642	SOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350419.1	NM_003106		7	71	0	0	0	0	7	71				
GAK	2580	broad.mit.edu	37	4	861163	861163	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chr4:861163G>C	ENST00000314167.4	-	21	2563	c.2453C>G	c.(2452-2454)gCc>gGc	p.A818G	GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Missense_Mutation_p.A739G	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	818					cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CTCCATCAGGGCAGACTCGCT	0.597																																						uc003gbm.3		NA																	0				lung(2)|central_nervous_system(1)|skin(1)	4						c.(2452-2454)GCC>GGC		cyclin G associated kinase							79.0	86.0	83.0					4																	861163		2203	4300	6503	SO:0001583	missense	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:861163G>C	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.2453C>G	4.37:g.861163G>C	ENSP00000314499:p.Ala818Gly					GAK_uc003gbn.3_Missense_Mutation_p.A739G|GAK_uc010ibk.1_Missense_Mutation_p.A712G|GAK_uc010ibi.2_5'UTR|GAK_uc010ibj.2_RNA|GAK_uc003gbl.3_Missense_Mutation_p.A682G	p.A818G	NM_005255	NP_005246	O14976	GAK_HUMAN		Colorectal(103;0.219)	21	2652	-			818					Q5U4P5|Q9BVY6	Missense_Mutation	SNP	ENST00000314167.4	37	c.2453C>G	CCDS3340.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.934244	0.34096	.	.	ENSG00000178950	ENST00000314167;ENST00000511163	T;T	0.78481	-0.73;-1.18	4.55	-7.05	0.01573	.	1.395690	0.03963	N	0.290327	T	0.49490	0.1560	N	0.11255	0.115	0.09310	N	1	B;B;B;B	0.31435	0.001;0.323;0.0;0.001	B;B;B;B	0.21546	0.002;0.035;0.002;0.002	T	0.43261	-0.9402	10	0.20519	T	0.43	-3.8262	3.7905	0.08718	0.6222:0.1157:0.1456:0.1164	.	739;739;818;714	Q5U4P5;E9PGR2;O14976;Q59HA5	.;.;GAK_HUMAN;.	G	818;739	ENSP00000314499:A818G;ENSP00000421361:A739G	ENSP00000314499:A818G	A	-	2	0	GAK	851163	0.000000	0.05858	0.000000	0.03702	0.379000	0.30106	-1.215000	0.02985	-1.584000	0.01636	-0.291000	0.09656	GCC		0.597	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255		5	128	0	0	0	0	5	128				
CAMK2D	817	broad.mit.edu	37	4	114680566	114680566	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chr4:114680566C>T	ENST00000342666.5	-	2	69	c.70G>A	c.(70-72)Gca>Aca	p.A24T	CAMK2D_ENST00000429180.1_Missense_Mutation_p.A24T|CAMK2D_ENST00000296402.5_Missense_Mutation_p.A24T|CAMK2D_ENST00000514328.1_Missense_Mutation_p.A24T|CAMK2D_ENST00000394524.3_Missense_Mutation_p.A24T|CAMK2D_ENST00000505990.1_Missense_Mutation_p.A24T|CAMK2D_ENST00000454265.2_Missense_Mutation_p.A24T|CAMK2D_ENST00000394526.2_Missense_Mutation_p.A24T|CAMK2D_ENST00000394522.3_Missense_Mutation_p.A24T|CAMK2D_ENST00000418639.2_Missense_Mutation_p.A24T|CAMK2D_ENST00000515496.1_Missense_Mutation_p.A24T|CAMK2D_ENST00000511664.1_Missense_Mutation_p.A24T|CAMK2D_ENST00000509907.1_5'UTR|CAMK2D_ENST00000379773.2_Missense_Mutation_p.A24T|CAMK2D_ENST00000508738.1_Missense_Mutation_p.A24T			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	24	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium ion transport (GO:0006816)|cardiac muscle cell contraction (GO:0086003)|cellular response to calcium ion (GO:0071277)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle cell action potential (GO:0098901)|regulation of cardiac muscle cell action potential involved in regulation of contraction (GO:0098909)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cell growth (GO:0001558)|regulation of cellular localization (GO:0060341)|regulation of generation of L-type calcium current (GO:1902514)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of histone deacetylase activity (GO:1901725)|regulation of membrane depolarization (GO:0003254)|regulation of relaxation of cardiac muscle (GO:1901897)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of the force of heart contraction (GO:0002026)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|relaxation of cardiac muscle (GO:0055119)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|calcium channel complex (GO:0034704)|calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intercalated disc (GO:0014704)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|ion channel binding (GO:0044325)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|sodium channel inhibitor activity (GO:0019871)|titin binding (GO:0031432)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		ACTGAGAATGCCCCCCTGGAA	0.323																																						uc003ibi.2		NA																	0				ovary(1)	1						c.(70-72)GCA>ACA		calcium/calmodulin-dependent protein kinase II							84.0	85.0	85.0					4																	114680566		2203	4300	6503	SO:0001583	missense	817				interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr4:114680566C>T	U50361	CCDS3703.1, CCDS3704.1, CCDS43263.1, CCDS47127.1, CCDS54797.1	4q26	2008-10-30	2008-10-30		ENSG00000145349	ENSG00000145349			1462	protein-coding gene	gene with protein product		607708	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II delta"""	CAMKD			Standard	NM_001221		Approved		uc003ibi.3	Q13557	OTTHUMG00000132910	ENST00000342666.5:c.70G>A	4.37:g.114680566C>T	ENSP00000339740:p.Ala24Thr					CAMK2D_uc003ibj.2_Missense_Mutation_p.A24T|CAMK2D_uc003ibk.2_Missense_Mutation_p.A24T|CAMK2D_uc003ibo.3_Missense_Mutation_p.A24T|CAMK2D_uc003ibm.2_Missense_Mutation_p.A24T|CAMK2D_uc003ibn.2_Missense_Mutation_p.A24T|CAMK2D_uc003ibl.2_Missense_Mutation_p.A24T	p.A24T	NM_001221	NP_001212	Q13557	KCC2D_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000271)	2	929	-		Ovarian(17;0.00369)|Hepatocellular(203;0.217)	24			ATP (By similarity).|Protein kinase.		A8MVS8|Q52PK4|Q59G21|Q8N553|Q9UGH6|Q9UQE9	Missense_Mutation	SNP	ENST00000342666.5	37	c.70G>A	CCDS3703.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.489880	0.84962	.	.	ENSG00000145349	ENST00000394524;ENST00000454265;ENST00000429180;ENST00000418639;ENST00000394526;ENST00000296402;ENST00000511664;ENST00000342666;ENST00000515496;ENST00000514328;ENST00000394522;ENST00000505990;ENST00000379773;ENST00000508738	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79	5.71	5.71	0.89125	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	U	0.000006	T	0.23846	0.0577	N	0.11756	0.17	0.80722	D	1	P;P;P;P;P	0.43826	0.818;0.782;0.782;0.657;0.706	P;B;B;B;B	0.45829	0.494;0.288;0.288;0.288;0.412	T	0.05989	-1.0852	10	0.72032	D	0.01	.	19.4741	0.94979	0.0:1.0:0.0:0.0	.	24;24;24;24;24	E9PF82;Q13557-3;Q13557-6;Q13557-12;Q13557	.;.;.;.;KCC2D_HUMAN	T	24	ENSP00000378032:A24T;ENSP00000415248:A24T;ENSP00000415707:A24T;ENSP00000406131:A24T;ENSP00000378034:A24T;ENSP00000296402:A24T;ENSP00000425824:A24T;ENSP00000339740:A24T;ENSP00000423482:A24T;ENSP00000423677:A24T;ENSP00000378030:A24T;ENSP00000424245:A24T;ENSP00000369098:A24T;ENSP00000422566:A24T	ENSP00000296402:A24T	A	-	1	0	CAMK2D	114900015	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	7.381000	0.79718	2.705000	0.92388	0.467000	0.42956	GCA		0.323	CAMK2D-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256420.2			4	87	0	0	0	0	4	87				
KIAA1109	84162	broad.mit.edu	37	4	123147970	123147970	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chr4:123147970C>T	ENST00000264501.4	+	24	3275	c.2902C>T	c.(2902-2904)Cgt>Tgt	p.R968C	KIAA1109_ENST00000455637.1_Missense_Mutation_p.R968C|KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000388738.3_Missense_Mutation_p.R968C			Q2LD37	K1109_HUMAN	KIAA1109	968					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TGGAATTGATCGTCGGTTCTG	0.338																																						uc003ieh.2		NA																	0				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(2902-2904)CGT>TGT		fragile site-associated protein							134.0	126.0	128.0					4																	123147970		1872	4113	5985	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123147970C>T	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.2902C>T	4.37:g.123147970C>T	ENSP00000264501:p.Arg968Cys					KIAA1109_uc003iei.1_Missense_Mutation_p.R721C|KIAA1109_uc010ins.1_Missense_Mutation_p.R311C|KIAA1109_uc003iej.1_3'UTR	p.R968C	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			22	2947	+			968					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.2902C>T	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.260331|5.260331	0.95368|0.95368	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637|ENST00000424425	T;T;T|.	0.52754|.	0.65;0.65;0.65|.	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	0.000000|.	0.45867|.	U|.	0.000326|.	T|T	0.67720|0.67720	0.2923|0.2923	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.77557|.	0.99|.	T|T	0.61222|0.61222	-0.7106|-0.7106	10|5	0.56958|.	D|.	0.05|.	.|.	20.0697|20.0697	0.97716|0.97716	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	968|.	Q2LD37|.	K1109_HUMAN|.	C|L	968|799	ENSP00000264501:R968C;ENSP00000373390:R968C;ENSP00000389925:R968C|.	ENSP00000264501:R968C|.	R|S	+|+	1|2	0|0	KIAA1109|KIAA1109	123367420|123367420	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.910000|5.910000	0.69931|0.69931	2.756000|2.756000	0.94617|0.94617	0.650000|0.650000	0.86243|0.86243	CGT|TCG		0.338	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		5	74	0	0	0	0	5	74				
C6	729	broad.mit.edu	37	5	41159281	41159281	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chr5:41159281G>A	ENST00000263413.3	-	12	2023	c.1759C>T	c.(1759-1761)Cga>Tga	p.R587*	C6_ENST00000475349.1_5'Flank|C6_ENST00000337836.5_Nonsense_Mutation_p.R587*	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	587	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TTGCATTCTCGGGTTCTCGAT	0.493																																						uc003jmk.2		NA																	0				ovary(3)|central_nervous_system(2)|skin(2)	7						c.(1759-1761)CGA>TGA		complement component 6 precursor							100.0	105.0	103.0					5																	41159281		2203	4300	6503	SO:0001587	stop_gained	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41159281G>A	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.1759C>T	5.37:g.41159281G>A	ENSP00000263413:p.Arg587*					C6_uc003jml.1_Nonsense_Mutation_p.R587*	p.R587*	NM_000065	NP_000056	P13671	CO6_HUMAN			12	1969	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	587			TSP type-1 3.			Nonsense_Mutation	SNP	ENST00000263413.3	37	c.1759C>T	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	G	37	6.524488	0.97637	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	.	.	.	5.53	4.65	0.58169	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.5176	13.4668	0.61258	0.0:0.0:0.7152:0.2848	.	.	.	.	X	587	.	ENSP00000263413:R587X	R	-	1	2	C6	41195038	1.000000	0.71417	0.895000	0.35142	0.041000	0.13682	2.721000	0.47260	1.531000	0.49152	0.650000	0.86243	CGA		0.493	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			5	105	0	0	0	0	5	105				
PCDHA3	56145	broad.mit.edu	37	5	140181071	140181071	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chr5:140181071G>C	ENST00000522353.2	+	1	289	c.289G>C	c.(289-291)Ggg>Cgg	p.G97R	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.G97R	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	97	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.G97R(2)|p.G97W(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAACTGTGCGGGCGGAGCGC	0.557																																						uc003lhf.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(6)|skin(2)	8						c.(289-291)GGG>CGG		protocadherin alpha 3 isoform 1 precursor							129.0	144.0	139.0					5																	140181071		2203	4300	6503	SO:0001583	missense	56145				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140181071G>C	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.289G>C	5.37:g.140181071G>C	ENSP00000429808:p.Gly97Arg					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.G97R	p.G97R	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	289	+			97			Cadherin 1.|Extracellular (Potential).		O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.289G>C	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	g	11.54	1.668997	0.29604	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.30981	1.51;1.51	4.51	4.51	0.55191	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.171277	0.26840	U	0.022223	T	0.46425	0.1392	M	0.71206	2.165	0.23249	N	0.998041	P;P	0.51057	0.941;0.686	P;P	0.54270	0.747;0.49	T	0.39143	-0.9628	10	0.52906	T	0.07	.	13.3391	0.60535	0.0:0.1587:0.8413:0.0	.	97;97	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	R	97	ENSP00000429808:G97R;ENSP00000434086:G97R	ENSP00000429808:G97R	G	+	1	0	PCDHA3	140161255	0.456000	0.25744	1.000000	0.80357	0.357000	0.29423	1.966000	0.40481	2.228000	0.72767	0.467000	0.42956	GGG		0.557	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		6	268	0	0	0	0	6	268				
HIST1H1C	3006	broad.mit.edu	37	6	26056369	26056369	+	Silent	SNP	C	C	G	rs555588749		TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chr6:26056369C>G	ENST00000343677.2	-	1	330	c.288G>C	c.(286-288)acG>acC	p.T96T		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	96	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						CGGTGCCTTTCGTTTGCACCA	0.532																																						uc003nfw.2		NA																	0				ovary(3)|skin(2)	5						c.(286-288)ACG>ACC		histone cluster 1, H1c							105.0	109.0	108.0					6																	26056369		2203	4300	6503	SO:0001819	synonymous_variant	3006				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26056369C>G	X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"""Histones / Replication-dependent"""	4716	protein-coding gene	gene with protein product		142710	"""H1 histone family, member 2"", ""histone 1, H1c"""	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.288G>C	6.37:g.26056369C>G							p.T96T	NM_005319	NP_005310	P16403	H12_HUMAN			1	331	-			96			H15.		A8K4I2	Silent	SNP	ENST00000343677.2	37	c.288G>C	CCDS4577.1																																																																																				0.532	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043372.1	NM_005319		6	178	0	0	0	0	6	178				
PRRC2A	7916	broad.mit.edu	37	6	31604566	31604566	+	Silent	SNP	G	G	A			TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chr6:31604566G>A	ENST00000376033.2	+	28	6225	c.5991G>A	c.(5989-5991)ccG>ccA	p.P1997P	PRRC2A_ENST00000376007.4_Silent_p.P1997P	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1997	3 X 50 AA type C repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GCTCCCTGCCGCCAGCACCAC	0.612																																						uc003nvb.3		NA																	0					0						c.(5989-5991)CCG>CCA		HLA-B associated transcript-2							147.0	187.0	173.0					6																	31604566		1507	2707	4214	SO:0001819	synonymous_variant	7916					cytoplasm|nucleus	protein binding	g.chr6:31604566G>A	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.5991G>A	6.37:g.31604566G>A						BAT2_uc003nvc.3_Silent_p.P1997P	p.P1997P	NM_080686	NP_542417	P48634	PRC2A_HUMAN			28	6240	+			1997			3-2.|3 X 50 AA type C repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Silent	SNP	ENST00000376033.2	37	c.5991G>A	CCDS4708.1																																																																																				0.612	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		8	282	0	0	0	0	8	282				
GPR6	2830	broad.mit.edu	37	6	110300574	110300574	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chr6:110300574G>A	ENST00000275169.3	+	1	277	c.259G>A	c.(259-261)Gct>Act	p.A87T	GPR6_ENST00000414000.2_Missense_Mutation_p.A102T	NM_005284.3	NP_005275.1	P46095	GPR6_HUMAN	G protein-coupled receptor 6	87					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		GACAGTGATCGCTGGAGAAAA	0.672																																						uc011eaw.1		NA																	0					0						c.(259-261)GCT>ACT		G protein-coupled receptor 6							75.0	75.0	75.0					6																	110300574		2203	4300	6503	SO:0001583	missense	2830					integral to plasma membrane		g.chr6:110300574G>A		CCDS5079.1, CCDS69172.1	6q21	2012-08-21				ENSG00000146360		"""GPCR / Class A : Orphans"""	4515	protein-coding gene	gene with protein product		600553				8530049	Standard	NM_001286099		Approved		uc003ptu.3	P46095	OTTHUMG00000015354	ENST00000275169.3:c.259G>A	6.37:g.110300574G>A	ENSP00000275169:p.Ala87Thr					GPR6_uc011eav.1_Missense_Mutation_p.A102T|GPR6_uc003ptu.2_Missense_Mutation_p.A87T	p.A87T	NM_005284	NP_005275	P46095	GPR6_HUMAN		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)	2	439	+		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)	87			Helical; Name=1; (Potential).		B4DHS9|J3KQR3|Q17RJ7|Q5SYL0	Missense_Mutation	SNP	ENST00000275169.3	37	c.259G>A	CCDS5079.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.304259	0.81136	.	.	ENSG00000146360	ENST00000428489;ENST00000414000;ENST00000275169	T;T	0.36699	1.24;1.24	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.29684	0.0741	L	0.42245	1.32	0.80722	D	1	D;D	0.57899	0.962;0.981	B;P	0.48488	0.241;0.579	T	0.02909	-1.1095	10	0.41790	T	0.15	.	17.7943	0.88565	0.0:0.0:1.0:0.0	.	102;87	B4DHS9;P46095	.;GPR6_HUMAN	T	87;102;87	ENSP00000406986:A102T;ENSP00000275169:A87T	ENSP00000275169:A87T	A	+	1	0	GPR6	110407267	1.000000	0.71417	0.996000	0.52242	0.894000	0.52154	4.668000	0.61568	2.434000	0.82447	0.462000	0.41574	GCT		0.672	GPR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041774.1			7	157	0	0	0	0	7	157				
LPA	4018	broad.mit.edu	37	6	160952810	160952810	+	Missense_Mutation	SNP	C	C	A	rs373226289		TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chr6:160952810C>A	ENST00000316300.5	-	39	6118	c.6074G>T	c.(6073-6075)cGt>cTt	p.R2025L	LPA_ENST00000447678.1_Missense_Mutation_p.R2025L			P08519	APOA_HUMAN	lipoprotein, Lp(a)	4533	Kringle 18. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CCTTGAAACACGAGCATAGAC	0.458																																						uc003qtl.2		NA																	0				ovary(3)|skin(2)|pancreas(1)	6						c.(6073-6075)CGT>CTT		lipoprotein Lp(a) precursor	Aminocaproic Acid(DB00513)						161.0	146.0	151.0					6																	160952810		2203	4300	6503	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:160952810C>A	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.6074G>T	6.37:g.160952810C>A	ENSP00000321334:p.Arg2025Leu						p.R2025L	NM_005577	NP_005568	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	40	6194	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	4533			Peptidase S1.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.6074G>T	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	c	12.42	1.932499	0.34096	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	D;D	0.84370	-1.84;-1.84	2.87	2.87	0.33458	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.90813	0.7115	M	0.85945	2.785	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	D	0.92358	0.5895	9	0.87932	D	0	.	13.6435	0.62267	0.0:1.0:0.0:0.0	.	4533	P08519	APOA_HUMAN	L	2025	ENSP00000321334:R2025L;ENSP00000395608:R2025L	ENSP00000321334:R2025L	R	-	2	0	LPA	160872800	0.999000	0.42202	0.993000	0.49108	0.089000	0.18198	4.175000	0.58263	1.313000	0.45069	0.184000	0.17185	CGT		0.458	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		6	82	1	0	4.1e-09	1.13e-08	6	82				
SUN1	23353	broad.mit.edu	37	7	891656	891656	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chr7:891656G>A	ENST00000405266.1	+	8	962	c.938G>A	c.(937-939)tGg>tAg	p.W313*	SUN1_ENST00000389574.3_Nonsense_Mutation_p.W193*|SUN1_ENST00000452783.2_Nonsense_Mutation_p.W174*|SUN1_ENST00000425407.2_Nonsense_Mutation_p.W193*|SUN1_ENST00000413514.2_Nonsense_Mutation_p.W85*|SUN1_ENST00000401592.1_Nonsense_Mutation_p.W276*|SUN1_ENST00000456758.2_Nonsense_Mutation_p.W465*			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	303					cytoskeletal anchoring at nuclear membrane (GO:0090286)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)	acrosomal membrane (GO:0002080)|integral component of nuclear inner membrane (GO:0005639)|nuclear envelope (GO:0005635)|SUN-KASH complex (GO:0034993)				NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTGATTTCTTGGCTGAATGTG	0.433																																						uc011jvp.1		NA																	0					0						c.(826-828)TGG>TAG		unc-84 homolog A isoform a							252.0	250.0	251.0					7																	891656		2030	4216	6246	SO:0001587	stop_gained	23353				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding	g.chr7:891656G>A	AF202724	CCDS43533.1, CCDS47525.1, CCDS55078.1, CCDS55079.1, CCDS55080.1	7p22.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164828	ENSG00000164828			18587	protein-coding gene	gene with protein product	"""Sad1 unc-84 domain protein 1"""	607723	"""unc-84 homolog A (C. elegans)"""	UNC84A		11593002	Standard	NM_001130965		Approved	KIAA0810, FLJ12407	uc021zym.1	O94901	OTTHUMG00000151426	ENST00000405266.1:c.938G>A	7.37:g.891656G>A	ENSP00000384116:p.Trp313*					GET4_uc003sjj.1_RNA|SUN1_uc003sjf.2_Nonsense_Mutation_p.W193*|SUN1_uc011jvq.1_Nonsense_Mutation_p.W174*|SUN1_uc003sjg.2_Nonsense_Mutation_p.W181*|SUN1_uc011jvr.1_Nonsense_Mutation_p.W85*|SUN1_uc003sji.2_Nonsense_Mutation_p.W114*|SUN1_uc003sjk.2_5'Flank	p.W276*	NM_001130965	NP_001124437	O94901	SUN1_HUMAN			8	906	+			303			Nuclear.		A5PL20|B3KMV7|B4DZF7|B7WNY4|B7WP53|E9PDU4|E9PF23|F8WD13|Q96CZ7|Q9HA14|Q9UH98	Nonsense_Mutation	SNP	ENST00000405266.1	37	c.827G>A		.	.	.	.	.	.	.	.	.	.	G	38	7.054431	0.98032	.	.	ENSG00000164828	ENST00000456758;ENST00000389574;ENST00000452783;ENST00000405266;ENST00000401592;ENST00000297445;ENST00000425407;ENST00000450881;ENST00000429178;ENST00000413514	.	.	.	5.63	5.63	0.86233	.	0.174404	0.49305	D	0.000143	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.7322	13.0645	0.59025	0.0:0.0:0.7364:0.2636	.	.	.	.	X	465;193;174;313;276;303;193;149;201;85	.	ENSP00000297445:W303X	W	+	2	0	SUN1	858182	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.410000	0.66381	2.815000	0.96918	0.655000	0.94253	TGG		0.433	SUN1-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000322566.1	NM_025154		4	111	0	0	0	0	4	111				
MAFK	7975	broad.mit.edu	37	7	1579888	1579888	+	Silent	SNP	C	C	T			TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chr7:1579888C>T	ENST00000343242.4	+	3	577	c.348C>T	c.(346-348)acC>acT	p.T116T		NM_002360.3	NP_002351.1	O60675	MAFK_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog K	116					blood coagulation (GO:0007596)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)						Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.75e-15)		CGCTGCAGACCTTCGCGCGCA	0.682																																						uc003skr.2		NA																	0					0						c.(346-348)ACC>ACT		v-maf musculoaponeurotic fibrosarcoma oncogene							36.0	38.0	37.0					7																	1579888		2194	4298	6492	SO:0001819	synonymous_variant	7975				blood coagulation	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:1579888C>T	AF059194	CCDS5325.1	7p22	2013-07-09	2013-07-09		ENSG00000198517	ENSG00000198517			6782	protein-coding gene	gene with protein product	"""basic-leucine zipper transcription factor MafK"", ""erythroid transcription factor NF-E2 p18 subunit"", ""nuclear factor erythroid-2, ubiquitous (p18)"""	600197				9763667	Standard	XM_005249851		Approved	P18, NFE2U	uc003skr.3	O60675	OTTHUMG00000151453	ENST00000343242.4:c.348C>T	7.37:g.1579888C>T						MAFK_uc003sks.1_RNA	p.T116T	NM_002360	NP_002351	O60675	MAFK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.75e-15)	3	559	+		Ovarian(82;0.0253)	116					A4D214	Silent	SNP	ENST00000343242.4	37	c.348C>T	CCDS5325.1																																																																																				0.682	MAFK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322712.1	NM_002360		5	29	0	0	0	0	5	29				
SGCE	8910	broad.mit.edu	37	7	94230126	94230126	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chr7:94230126C>T	ENST00000265735.7	-	7	979	c.869G>A	c.(868-870)cGt>cAt	p.R290H	SGCE_ENST00000437425.2_Missense_Mutation_p.R249H|SGCE_ENST00000447873.1_Missense_Mutation_p.R290H|SGCE_ENST00000445866.2_Missense_Mutation_p.R290H|SGCE_ENST00000415788.2_Missense_Mutation_p.R326H|SGCE_ENST00000428696.2_Missense_Mutation_p.R290H	NM_003919.2	NP_003910.1	O43556	SGCE_HUMAN	sarcoglycan, epsilon	290	Cys-rich.				cell-matrix adhesion (GO:0007160)|muscle organ development (GO:0007517)	cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|dystrophin-associated glycoprotein complex (GO:0016010)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CCCCTCTCCACGAATCACTTC	0.378																																						uc003unl.2		NA																	0				ovary(1)	1						c.(868-870)CGT>CAT		sarcoglycan, epsilon isoform 2							65.0	60.0	62.0					7																	94230126		2203	4300	6503	SO:0001583	missense	8910				cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding	g.chr7:94230126C>T	AF036364	CCDS5637.1, CCDS47642.1, CCDS47643.1, CCDS75634.1	7q21.3	2014-09-17			ENSG00000127990	ENSG00000127990			10808	protein-coding gene	gene with protein product		604149		DYT11		9475163, 9405466	Standard	NM_001099401		Approved		uc003unn.2	O43556	OTTHUMG00000022828	ENST00000265735.7:c.869G>A	7.37:g.94230126C>T	ENSP00000265735:p.Arg290His					SGCE_uc003unk.2_Missense_Mutation_p.R122H|SGCE_uc003unm.2_Missense_Mutation_p.R290H|SGCE_uc003unn.2_Missense_Mutation_p.R290H|SGCE_uc011kic.1_Missense_Mutation_p.R249H|SGCE_uc011kid.1_Missense_Mutation_p.R326H	p.R290H	NM_003919	NP_003910	O43556	SGCE_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		7	980	-	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		290			Cys-rich.|Extracellular (Potential).		B2R8N2|D6W5Q8|E9PF60|G5E9K6|Q6L8P0|Q75MH8|Q8NFG8|Q8WW28	Missense_Mutation	SNP	ENST00000265735.7	37	c.869G>A	CCDS5637.1	.	.	.	.	.	.	.	.	.	.	C	8.426	0.847503	0.17034	.	.	ENSG00000127990	ENST00000265735;ENST00000445866;ENST00000437425;ENST00000447873;ENST00000428696;ENST00000415788	D;D;D;D;D;D	0.97731	-4.51;-4.51;-4.51;-4.51;-4.51;-4.51	4.79	4.79	0.61399	.	0.112180	0.64402	D	0.000007	D	0.93393	0.7893	N	0.22421	0.69	0.50632	D	0.999882	B;B;B;B;B;B	0.23185	0.081;0.002;0.003;0.023;0.002;0.0	B;B;B;B;B;B	0.16722	0.016;0.001;0.007;0.005;0.001;0.001	D	0.90409	0.4408	10	0.15066	T	0.55	-30.1061	13.1541	0.59508	0.0:0.9207:0.0:0.0793	.	326;249;290;290;290;290	B7Z2R4;E9PEH6;E9PF60;G5E9K6;O43556;C9JR67	.;.;.;.;SGCE_HUMAN;.	H	290;290;249;290;290;326	ENSP00000265735:R290H;ENSP00000398930:R290H;ENSP00000394061:R249H;ENSP00000388734:R290H;ENSP00000397536:R290H;ENSP00000405313:R326H	ENSP00000265735:R290H	R	-	2	0	SGCE	94068062	0.996000	0.38824	1.000000	0.80357	0.970000	0.65996	0.741000	0.26202	2.591000	0.87537	0.467000	0.42956	CGT		0.378	SGCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255251.2			9	39	0	0	0	0	9	39				
SDCBP	6386	broad.mit.edu	37	8	59492228	59492228	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chr8:59492228G>A	ENST00000260130.4	+	7	775	c.625G>A	c.(625-627)Gtt>Att	p.V209I	SDCBP_ENST00000413219.2_Missense_Mutation_p.V209I|SDCBP_ENST00000447267.2_Missense_Mutation_p.V155I|SDCBP_ENST00000447182.2_Missense_Mutation_p.V208I|SDCBP_ENST00000424270.2_Missense_Mutation_p.V203I|SDCBP_ENST00000520168.1_Missense_Mutation_p.V150I|SDCBP_ENST00000523483.1_Missense_Mutation_p.V229I|SDCBP_ENST00000422546.2_Missense_Mutation_p.V208I	NM_001007068.1|NM_001007069.1|NM_005625.3	NP_001007069.1|NP_001007070.1|NP_005616.2	O00560	SDCB1_HUMAN	syndecan binding protein (syntenin)	209	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|intracellular signal transduction (GO:0035556)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|protein targeting to membrane (GO:0006612)|Ras protein signal transduction (GO:0007265)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic transmission (GO:0007268)	adherens junction (GO:0005912)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-5 receptor complex (GO:0005895)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	cytoskeletal adaptor activity (GO:0008093)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|interleukin-5 receptor binding (GO:0005137)|protein heterodimerization activity (GO:0046982)|protein N-terminus binding (GO:0047485)|syndecan binding (GO:0045545)			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	8		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				CACTGGACATGTTGGTTTTAT	0.338																																						uc003xtn.2		NA																	0					0						c.(625-627)GTT>ATT		syntenin isoform 1							85.0	81.0	82.0					8																	59492228		2203	4300	6503	SO:0001583	missense	6386				actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission	cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus	cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding	g.chr8:59492228G>A	AF000652	CCDS6172.1, CCDS47862.1, CCDS47863.1	8q12.1	2012-12-04			ENSG00000137575	ENSG00000137575			10662	protein-coding gene	gene with protein product		602217				9391086	Standard	NM_001007067		Approved	SYCL	uc003xtq.3	O00560	OTTHUMG00000164303	ENST00000260130.4:c.625G>A	8.37:g.59492228G>A	ENSP00000260130:p.Val209Ile					SDCBP_uc003xto.2_Missense_Mutation_p.V208I|SDCBP_uc003xtr.2_Missense_Mutation_p.V208I|SDCBP_uc003xtp.2_Missense_Mutation_p.V203I|SDCBP_uc003xtq.2_Missense_Mutation_p.V209I|SDCBP_uc003xts.2_Missense_Mutation_p.V215I|SDCBP_uc011led.1_Missense_Mutation_p.V150I	p.V209I	NM_005625	NP_005616	O00560	SDCB1_HUMAN			7	775	+		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)	209			PDZ 2.		B2R5Q7|B4DUH3|B7ZLN2|O00173|O43391|Q14CP2	Missense_Mutation	SNP	ENST00000260130.4	37	c.625G>A	CCDS6172.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.061503	0.76187	.	.	ENSG00000137575	ENST00000260130;ENST00000422546;ENST00000447182;ENST00000413219;ENST00000424270;ENST00000523483;ENST00000520168;ENST00000447267	T;T;T;T;T;T;T;T	0.16324	2.35;2.35;2.35;2.35;2.35;2.35;2.35;2.35	5.76	5.76	0.90799	PDZ/DHR/GLGF (4);	0.070097	0.64402	D	0.000019	T	0.20047	0.0482	L	0.46157	1.445	0.80722	D	1	B;B;B;B	0.24576	0.106;0.068;0.009;0.011	B;B;B;B	0.25140	0.058;0.051;0.015;0.025	T	0.03545	-1.1026	9	.	.	.	-31.8177	20.3277	0.98707	0.0:0.0:1.0:0.0	.	150;229;203;209	B4DHN5;G5EA09;O00560-3;O00560	.;.;.;SDCB1_HUMAN	I	209;208;208;209;203;229;150;155	ENSP00000260130:V209I;ENSP00000391687:V208I;ENSP00000409288:V208I;ENSP00000411771:V209I;ENSP00000395351:V203I;ENSP00000428184:V229I;ENSP00000430730:V150I;ENSP00000397820:V155I	.	V	+	1	0	SDCBP	59654782	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.950000	0.87804	2.879000	0.98667	0.650000	0.86243	GTT		0.338	SDCBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378193.1	NM_005625		5	72	0	0	0	0	5	72				
CA8	767	broad.mit.edu	37	8	61135309	61135309	+	Missense_Mutation	SNP	G	G	A	rs145210688		TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chr8:61135309G>A	ENST00000317995.4	-	7	901	c.637C>T	c.(637-639)Cgg>Tgg	p.R213W	CA8_ENST00000528666.1_5'UTR	NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	213					one-carbon metabolic process (GO:0006730)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasm (GO:0005737)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)			Zonisamide(DB00909)	CAGTAATCCCGCAGCAGAGGG	0.438													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19035	0.0		0.0	False		,,,				2504	0.0					uc003xtz.1		NA																	0					0						c.(637-639)CGG>TGG		carbonic anhydrase VIII							91.0	85.0	87.0					8																	61135309		2203	4300	6503	SO:0001583	missense	767				one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding	g.chr8:61135309G>A	L04656	CCDS6174.1	8q12.1	2012-08-21			ENSG00000178538	ENSG00000178538		"""Carbonic anhydrases"""	1382	protein-coding gene	gene with protein product		114815		CALS		17219437	Standard	NM_004056		Approved	CARP	uc003xtz.1	P35219	OTTHUMG00000165325	ENST00000317995.4:c.637C>T	8.37:g.61135309G>A	ENSP00000314407:p.Arg213Trp					CA8_uc003xua.1_Missense_Mutation_p.R213W	p.R213W	NM_004056	NP_004047	P35219	CAH8_HUMAN			7	885	-		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)	213					A8K0A5|B3KQZ7|Q32MY2	Missense_Mutation	SNP	ENST00000317995.4	37	c.637C>T	CCDS6174.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	19.40	3.819693	0.71028	.	.	ENSG00000178538	ENST00000317995	T	0.69926	-0.44	5.65	4.76	0.60689	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.85682	D	0.000000	T	0.77478	0.4136	L	0.49778	1.585	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	T	0.79647	-0.1716	10	0.66056	D	0.02	.	15.8158	0.78597	0.0:0.0:0.8631:0.1369	.	213	P35219	CAH8_HUMAN	W	213	ENSP00000314407:R213W	ENSP00000314407:R213W	R	-	1	2	CA8	61297863	1.000000	0.71417	0.999000	0.59377	0.624000	0.37722	4.124000	0.57924	1.342000	0.45619	0.655000	0.94253	CGG		0.438	CA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383445.1			15	77	0	0	0	0	15	77				
FAM214B	80256	broad.mit.edu	37	9	35107547	35107547	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chr9:35107547C>T	ENST00000378561.1	-	2	3780	c.725G>A	c.(724-726)cGa>cAa	p.R242Q	FAM214B_ENST00000322813.5_Missense_Mutation_p.R242Q|FAM214B_ENST00000605392.1_5'Flank|FAM214B_ENST00000378557.1_Missense_Mutation_p.R242Q|FAM214B_ENST00000378554.2_Missense_Mutation_p.R242Q|FAM214B_ENST00000603301.1_Missense_Mutation_p.R242Q|FAM214B_ENST00000378566.1_5'UTR|FAM214B_ENST00000605244.1_Missense_Mutation_p.R242Q|FAM214B_ENST00000488109.2_Missense_Mutation_p.R242Q			Q7L5A3	F214B_HUMAN	family with sequence similarity 214, member B	242						nucleus (GO:0005634)											AAGCAGCCTTCGCTTGGTGGG	0.697																																						uc003zwl.2		NA																	0				ovary(2)	2						c.(724-726)CGA>CAA		hypothetical protein LOC80256							43.0	54.0	50.0					9																	35107547		2197	4287	6484	SO:0001583	missense	80256					nucleus		g.chr9:35107547C>T	AB040972	CCDS6578.1	9p13.2	2011-12-01	2011-12-01	2011-12-01	ENSG00000005238	ENSG00000005238			25666	protein-coding gene	gene with protein product			"""KIAA1539"""	KIAA1539		10819331	Standard	NM_025182		Approved	FLJ11560, bA182N22.6	uc003zwo.3	Q7L5A3	OTTHUMG00000019847	ENST00000378561.1:c.725G>A	9.37:g.35107547C>T	ENSP00000367823:p.Arg242Gln					KIAA1539_uc003zwm.2_Missense_Mutation_p.R242Q|KIAA1539_uc003zwn.2_5'UTR|KIAA1539_uc003zwo.2_Missense_Mutation_p.R242Q|KIAA1539_uc003zwp.1_Missense_Mutation_p.R242Q|KIAA1539_uc010mkk.1_RNA	p.R242Q	NM_025182	NP_079458	Q7L5A3	K1539_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		3	1050	-	all_epithelial(49;0.217)		242					B1AML4|B1AML5|D3DRN5|O60377|Q9BQ60|Q9HAI9|Q9P1Y9	Missense_Mutation	SNP	ENST00000378561.1	37	c.725G>A	CCDS6578.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.288377	0.80803	.	.	ENSG00000005238	ENST00000322813;ENST00000378561;ENST00000378557;ENST00000378554	.	.	.	5.13	5.13	0.70059	.	0.156058	0.38548	N	0.001646	T	0.73079	0.3541	L	0.40543	1.245	0.39363	D	0.965957	D	0.76494	0.999	D	0.72625	0.978	T	0.75425	-0.3322	9	0.59425	D	0.04	-28.0293	18.7759	0.91911	0.0:1.0:0.0:0.0	.	242	Q7L5A3	K1539_HUMAN	Q	242	.	ENSP00000319897:R242Q	R	-	2	0	KIAA1539	35097547	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.806000	0.62569	2.682000	0.91365	0.555000	0.69702	CGA		0.697	FAM214B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052261.1	NM_025182		5	139	0	0	0	0	5	139				
AWAT1	158833	broad.mit.edu	37	X	69455618	69455618	+	Silent	SNP	G	G	A			TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chrX:69455618G>A	ENST00000374521.3	+	2	170	c.129G>A	c.(127-129)ccG>ccA	p.P43P	AWAT1_ENST00000480702.1_3'UTR	NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	43					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						CCTTGTGGCCGCTACCAGTGC	0.488																																						uc004dxy.2		NA																	0				ovary(3)	3						c.(127-129)CCG>CCA		wax synthase 1							300.0	225.0	250.0					X																	69455618		2203	4300	6503	SO:0001819	synonymous_variant	158833				lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity	g.chrX:69455618G>A	BC039181	CCDS35321.1	Xq13.1	2010-01-25	2009-02-23	2009-02-23	ENSG00000204195	ENSG00000204195			23252	protein-coding gene	gene with protein product		300924	"""diacylglycerol O-acyltransferase 2-like 3"""	DGAT2L3		14970677, 15671038	Standard	NM_001013579		Approved		uc004dxy.3	Q58HT5	OTTHUMG00000021773	ENST00000374521.3:c.129G>A	X.37:g.69455618G>A							p.P43P	NM_001013579	NP_001013597	Q58HT5	AWAT1_HUMAN			2	170	+			43			Helical; (Potential).		Q5JT21|Q6IEE4	Silent	SNP	ENST00000374521.3	37	c.129G>A	CCDS35321.1																																																																																				0.488	AWAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057066.3	NM_001013579		6	243	0	0	0	0	6	243				
F9	2158	broad.mit.edu	37	X	138643694	138643694	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chrX:138643694A>T	ENST00000218099.2	+	8	857	c.850A>T	c.(850-852)Att>Ttt	p.I284F	F9_ENST00000394090.2_Missense_Mutation_p.I246F	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	284	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	TGAACATAATATTGAGGAGAC	0.333																																						uc004fas.1		NA																	0				lung(2)|ovary(1)	3						c.(850-852)ATT>TTT		coagulation factor IX preproprotein	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)						96.0	89.0	91.0					X																	138643694		2203	4299	6502	SO:0001583	missense	2158				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity	g.chrX:138643694A>T	M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"""Factor IX"", ""plasma thromboplastic component"", ""Christmas disease"", ""hemophilia B"""	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.850A>T	X.37:g.138643694A>T	ENSP00000218099:p.Ile284Phe					F9_uc004fat.1_Missense_Mutation_p.I246F	p.I284F	NM_000133	NP_000124	P00740	FA9_HUMAN			8	879	+	Acute lymphoblastic leukemia(192;0.000127)		284			Peptidase S1.		A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Missense_Mutation	SNP	ENST00000218099.2	37	c.850A>T	CCDS14666.1	.	.	.	.	.	.	.	.	.	.	A	7.322	0.617248	0.14129	.	.	ENSG00000101981	ENST00000218099;ENST00000394090	D;D	0.89681	-2.55;-2.55	5.42	4.27	0.50696	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.466367	0.24851	N	0.035093	D	0.85137	0.5628	L	0.33668	1.02	0.09310	N	1	P;B	0.36125	0.538;0.009	B;B	0.44163	0.443;0.006	T	0.77464	-0.2578	10	0.44086	T	0.13	.	9.0627	0.36444	0.913:0.0:0.087:0.0	.	246;284	Q5FBE1;P00740	.;FA9_HUMAN	F	284;246	ENSP00000218099:I284F;ENSP00000377650:I246F	ENSP00000218099:I284F	I	+	1	0	F9	138471360	0.000000	0.05858	0.217000	0.23759	0.071000	0.16799	0.268000	0.18571	1.801000	0.52704	0.441000	0.28932	ATT		0.333	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058557.1			13	90	0	0	0	0	13	90				
HAUS7	55559	broad.mit.edu	37	X	152730472	152730472	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chrX:152730472C>A	ENST00000370211.4	-	3	339	c.296G>T	c.(295-297)gGg>gTg	p.G99V	TREX2_ENST00000338525.2_5'UTR|TREX2_ENST00000330912.2_5'UTR|HAUS7_ENST00000370212.3_Missense_Mutation_p.G99V|TREX2_ENST00000334497.2_5'UTR|HAUS7_ENST00000421080.2_Intron|HAUS7_ENST00000370210.1_Missense_Mutation_p.G89V|TREX2_ENST00000370232.1_5'UTR	NM_017518.7	NP_059988.3	Q99871	HAUS7_HUMAN	HAUS augmin-like complex, subunit 7	99					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	thioesterase binding (GO:0031996)			endometrium(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)	19						TGTTGGGACCCCTTTCAGTGA	0.577																																						uc004fho.1		NA																	0					0						c.(295-297)GGG>GTG		HAUS augmin-like complex subunit 7							322.0	259.0	280.0					X																	152730472		2203	4300	6503	SO:0001583	missense	55559				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleolus|plasma membrane|spindle	thioesterase binding	g.chrX:152730472C>A	AF267739	CCDS35438.1	Xq28	2011-10-24	2009-04-20	2009-04-20		ENSG00000213397		"""HAUS augmin-like complex subunits"""	32979	protein-coding gene	gene with protein product	"""UCH37 interacting protein 1"", ""26S proteasome-associated UCH interacting protein 1"""	300540	"""UCHL5 interacting protein"""	UCHL5IP		11163772, 16395595, 19427217	Standard	NM_017518		Approved	UIP1	uc004fho.2	Q99871		ENST00000370211.4:c.296G>T	X.37:g.152730472C>A	ENSP00000359230:p.Gly99Val					HAUS7_uc004fhl.2_RNA|HAUS7_uc004fhm.2_RNA|HAUS7_uc004fhn.1_Missense_Mutation_p.G99V|HAUS7_uc004fhp.1_Intron|HAUS7_uc011myq.1_RNA	p.G99V	NM_017518	NP_059988	Q99871	HAUS7_HUMAN			3	854	-			99					B4DUH6|D3DWT9|Q96HS8|Q9NP54|Q9UFH9	Missense_Mutation	SNP	ENST00000370211.4	37	c.296G>T	CCDS35438.1	.	.	.	.	.	.	.	.	.	.	C	11.72	1.723847	0.30593	.	.	ENSG00000213397	ENST00000370211;ENST00000370219;ENST00000370212;ENST00000453918;ENST00000370210	T;T;T;T	0.27402	1.67;1.67;1.67;1.67	4.08	1.14	0.20703	.	1.005760	0.07993	N	0.987463	T	0.36248	0.0960	M	0.62723	1.935	0.09310	N	1	P;P	0.47910	0.893;0.902	P;B	0.47981	0.563;0.339	T	0.21621	-1.0240	10	0.41790	T	0.15	-13.5055	6.4885	0.22103	0.1973:0.4247:0.378:0.0	.	99;99	Q99871;Q99871-2	HAUS7_HUMAN;.	V	89;99;99;158;89	ENSP00000359230:G89V;ENSP00000359239:G99V;ENSP00000359231:G99V;ENSP00000359229:G89V	ENSP00000359229:G89V	G	-	2	0	HAUS7	152383666	0.001000	0.12720	0.000000	0.03702	0.022000	0.10575	0.530000	0.23036	0.103000	0.17682	0.600000	0.82982	GGG		0.577	HAUS7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060963.2	NM_017518		17	359	1	0	1.56e-12	4.4e-12	17	359				
CHAT	1103	broad.mit.edu	37	10	50872950	50872952	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-CR-7392-01A-11D-2012-08	TCGA-CR-7392-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0616d3e5-9641-4329-a65a-19f4c6918e1c	6af45747-7234-43ab-a250-f346349301fd	g.chr10:50872950_50872952delCTT	ENST00000337653.2	+	15	2258_2260	c.2105_2107delCTT	c.(2104-2109)acttct>act	p.S705del	CHAT_ENST00000455728.2_Intron|CHAT_ENST00000395562.2_In_Frame_Del_p.S623del|CHAT_ENST00000351556.3_In_Frame_Del_p.S587del|CHAT_ENST00000395559.2_In_Frame_Del_p.S587del|CHAT_ENST00000339797.1_In_Frame_Del_p.S587del	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	705					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	TGCAAAGAGACTTCTTCTAGCAA	0.502																																						uc001jhz.2		NA																	0				central_nervous_system(3)	3						c.(2104-2109)ACTTCT>ACT		choline acetyltransferase isoform 2	Choline(DB00122)																																			SO:0001651	inframe_deletion	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50872950_50872952delCTT	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.2105_2107delCTT	10.37:g.50872953_50872955delCTT	ENSP00000337103:p.Ser705del					CHAT_uc001jhv.1_In_Frame_Del_p.S587del|CHAT_uc001jhx.1_In_Frame_Del_p.S587del|CHAT_uc001jhy.1_In_Frame_Del_p.S587del|CHAT_uc001jia.2_In_Frame_Del_p.S587del|CHAT_uc010qgs.1_Intron	p.S705del	NM_020549	NP_065574	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	15	2258_2260	+		all_neural(218;0.107)	705					A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	In_Frame_Del	DEL	ENST00000337653.2	37	c.2105_2107delCTT	CCDS7232.1																																																																																				0.502	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549		8	306	NA	NA	NA	NA	8	306	---	---	---	---
