#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
RABL6	55684	broad.mit.edu	37	9	139733836	139733836	+	Silent	SNP	G	G	A			TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr9:139733836G>A	ENST00000311502.7	+	12	1892	c.1656G>A	c.(1654-1656)tcG>tcA	p.S552S	RABL6_ENST00000371675.3_Silent_p.S437S|RABL6_ENST00000371663.4_Silent_p.S553S|RABL6_ENST00000432842.2_3'UTR|RABL6_ENST00000357466.2_Intron			Q3YEC7	RABL6_HUMAN	RAB, member RAS oncogene family-like 6	552					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)										AGGCCTCCTCGTCGGAGAGTG	0.642																																						uc004cjj.1																			0				endometrium(4)|kidney(1)|lung(4)	9						c.(1657-1659)tcG>tcA		Homo sapiens chromosome 9 open reading frame 86 (C9orf86), transcript variant 3, mRNA.							33.0	42.0	39.0					9																	139733836		2129	4251	6380	SO:0001819	synonymous_variant	55684				small GTPase mediated signal transduction	cytoplasm|nucleus	GTP binding|protein binding	g.chr9:139733836G>A	AK094382	CCDS48058.1, CCDS55352.1, CCDS55353.1	9q34.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000196642	ENSG00000196642			24703	protein-coding gene	gene with protein product	"""Rab-like protein 1"", ""partner of ARF"""	610615	"""chromosome 9 open reading frame 86"""	C9orf86		14702039, 16582619, 17962191, 19433581	Standard	NM_024718		Approved	FLJ10101, FLJ13045, pp8875, bA216L13.9, Parf, RBEL1	uc004cjj.1	Q3YEC7	OTTHUMG00000020947	ENST00000311502.7:c.1656G>A	9.37:g.139733836G>A						C9orf86_uc004cji.1_Silent_p.S552S|C9orf86_uc004cjk.1_Non-coding_Transcript|C9orf86_uc004cjl.1_Non-coding_Transcript|C9orf86_uc010nbs.1_Silent_p.S437S|C9orf86_uc004cjn.1_Silent_p.S346S	p.S553S	NM_001173988	NP_001167459	Q3YEC7	PARF_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.61e-05)|Epithelial(140;0.000183)	11	2116	+	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)	552					A8QVZ7|A8QVZ8|C6K8I4|C6K8I5|Q4F968|Q5T5R7|Q8IWK1|Q8TCL4|Q8WU94|Q96SR8|Q9BU21|Q9H935	Silent	SNP	ENST00000311502.7	37	c.1659G>A	CCDS48058.1																																																																																				0.642	RABL6-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055141.4	NM_024718		6	32	0	0	0	1	0	6	32				
CLCN3	1182	broad.mit.edu	37	4	170628369	170628369	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr4:170628369C>T	ENST00000513761.1	+	11	2660	c.2101C>T	c.(2101-2103)Cag>Tag	p.Q701*	CLCN3_ENST00000360642.3_Nonsense_Mutation_p.Q674*|CLCN3_ENST00000347613.4_Nonsense_Mutation_p.Q701*|CLCN3_ENST00000504131.2_Nonsense_Mutation_p.Q684*	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	701	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				chloride transmembrane transport (GO:1902476)|endosomal lumen acidification (GO:0048388)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|voltage-gated chloride channel activity (GO:0005247)			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		AAAAGAATCTCAGAGATTAGT	0.358																																						uc003ish.3																			0				breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29						c.(2101-2103)Cag>Tag		Homo sapiens chloride channel 3 (CLCN3), transcript variant e, mRNA.							109.0	118.0	115.0					4																	170628369		2203	4300	6503	SO:0001587	stop_gained	1182				endosomal lumen acidification	Golgi membrane|cell surface|early endosome membrane|integral to membrane|late endosome membrane|transport vesicle membrane	ATP binding|PDZ domain binding|antiporter activity|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity	g.chr4:170628369C>T	X78520	CCDS34100.1, CCDS34101.1, CCDS58932.1, CCDS75208.1	4q	2012-09-26	2012-02-23		ENSG00000109572	ENSG00000109572		"""Ion channels / Chloride channels : Voltage-sensitive"""	2021	protein-coding gene	gene with protein product		600580	"""chloride channel 3"""				Standard	NM_001243374		Approved	CLC3, ClC-3	uc003ish.3	P51790	OTTHUMG00000160973	ENST00000513761.1:c.2101C>T	4.37:g.170628369C>T	ENSP00000424603:p.Gln701*					CLCN3_uc003isi.3_Nonsense_Mutation_p.Q701*|CLCN3_uc011cka.2_Nonsense_Mutation_p.Q674*|CLCN3_uc011cjz.2_Nonsense_Mutation_p.Q684*|CLCN3_uc003isj.2_Nonsense_Mutation_p.Q674*	p.Q701*	NM_173872	NP_776297	P51790	CLCN3_HUMAN		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)	10	2660	+		Prostate(90;0.00601)|Renal(120;0.0183)	701			CBS 1.		B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Nonsense_Mutation	SNP	ENST00000513761.1	37	c.2101C>T	CCDS34101.1	.	.	.	.	.	.	.	.	.	.	C	42	9.329091	0.99138	.	.	ENSG00000109572	ENST00000513761;ENST00000347613;ENST00000360642;ENST00000504131;ENST00000507875	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-4.7654	19.817	0.96573	0.0:1.0:0.0:0.0	.	.	.	.	X	701;701;674;684;674	.	ENSP00000261514:Q701X	Q	+	1	0	CLCN3	170864944	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.671000	0.68095	2.678000	0.91216	0.655000	0.94253	CAG		0.358	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363210.2			47	154	0	0	0	1	0	47	154				
IRAK4	51135	broad.mit.edu	37	12	44172022	44172022	+	Silent	SNP	C	C	T			TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr12:44172022C>T	ENST00000448290.2	+	8	929	c.858C>T	c.(856-858)caC>caT	p.H286H	IRAK4_ENST00000551736.1_Silent_p.H286H|IRAK4_ENST00000440781.2_Silent_p.H162H|IRAK4_ENST00000431837.1_Silent_p.H162H	NM_016123.3	NP_057207.2	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	286	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine production (GO:0001816)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		TTTCTTGGCACATGAGATGCA	0.303																																						uc001rnu.3																			0											c.(856-858)caC>caT		Homo sapiens interleukin-1 receptor-associated kinase 4 (IRAK4), transcript variant 1, mRNA.							70.0	69.0	70.0					12																	44172022		2203	4300	6503	SO:0001819	synonymous_variant	51135				MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr12:44172022C>T	AF155118	CCDS8744.1, CCDS44862.1	12q12	2014-09-17				ENSG00000198001			17967	protein-coding gene	gene with protein product		606883				3772297, 10508479	Standard	NM_001114182		Approved	NY-REN-64	uc001rnt.3	Q9NWZ3		ENST00000448290.2:c.858C>T	12.37:g.44172022C>T						IRAK4_uc001rnt.3_Silent_p.H286H|IRAK4_uc001rnx.3_Silent_p.H162H|IRAK4_uc001rny.3_Silent_p.H162H|IRAK4_uc010sky.1_Silent_p.H162H|IRAK4_uc001rnv.3_Silent_p.H162H|IRAK4_uc001rnw.3_Silent_p.H162H	p.H286H	NM_001114182	NP_001138730	Q9NWZ3	IRAK4_HUMAN		GBM - Glioblastoma multiforme(48;0.04)	8	988	+	all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)	286			Protein kinase.		Q69FE1|Q8TDF7|Q9Y589	Silent	SNP	ENST00000448290.2	37	c.858C>T	CCDS8744.1																																																																																				0.303	IRAK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403947.1			25	73	0	0	0	1	0	25	73				
FAM50B	26240	broad.mit.edu	37	6	3850220	3850220	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr6:3850220G>A	ENST00000380274.1	+	1	601	c.175G>A	c.(175-177)Gag>Aag	p.E59K	FAM50B_ENST00000380272.3_Missense_Mutation_p.E59K			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	59						nucleus (GO:0005634)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				CGTGGAGGCCGAGCTGAAGTC	0.662																																						uc003mvu.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17						c.(175-177)Gag>Aag		Homo sapiens family with sequence similarity 50, member B (FAM50B), mRNA.							49.0	48.0	49.0					6																	3850220		2203	4300	6503	SO:0001583	missense	26240					nucleus		g.chr6:3850220G>A	Y18504	CCDS4487.1	6p25.2	2008-05-15			ENSG00000145945	ENSG00000145945			18789	protein-coding gene	gene with protein product		614686				10534398	Standard	NM_012135		Approved	D6S2654E, X5L	uc003mvu.3	Q9Y247	OTTHUMG00000014147	ENST00000380274.1:c.175G>A	6.37:g.3850220G>A	ENSP00000369627:p.Glu59Lys					FAM50B_uc021ykt.1_Missense_Mutation_p.E59K	p.E59K	NM_012135	NP_036267	Q9Y247	FA50B_HUMAN			1	287	+	Ovarian(93;0.0925)	all_hematologic(90;0.108)	59					Q5T2L6	Missense_Mutation	SNP	ENST00000380274.1	37	c.175G>A	CCDS4487.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.228103	0.58777	.	.	ENSG00000145945	ENST00000380274;ENST00000380272	.	.	.	4.43	4.43	0.53597	.	0.057577	0.64402	U	0.000002	T	0.30135	0.0755	L	0.55834	1.745	0.44619	D	0.997592	P	0.37525	0.598	B	0.29524	0.103	T	0.26258	-1.0108	9	0.08837	T	0.75	-32.7226	14.9294	0.70903	0.0:0.0:1.0:0.0	.	59	Q9Y247	FA50B_HUMAN	K	59	.	ENSP00000369625:E59K	E	+	1	0	FAM50B	3795219	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	4.098000	0.57748	2.462000	0.83206	0.561000	0.74099	GAG		0.662	FAM50B-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039693.1	NM_012135		15	30	0	0	0	1	0	15	30				
FADS6	283985	broad.mit.edu	37	17	72874555	72874555	+	Missense_Mutation	SNP	C	C	T	rs145096183		TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr17:72874555C>T	ENST00000310226.6	-	6	972	c.958G>A	c.(958-960)Gag>Aag	p.E320K		NM_178128.3	NP_835229.2	Q8N9I5	FADS6_HUMAN	fatty acid desaturase 6	326					fatty acid biosynthetic process (GO:0006633)	integral component of membrane (GO:0016021)	oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					TATGAGTCCTCGTTGTACGGT	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		19666	0.0		0.001	False		,,,				2504	0.0					uc002jmd.1																			0				endometrium(3)|kidney(1)|lung(4)	8						c.(958-960)Gag>Aag		Homo sapiens fatty acid desaturase domain family, member 6 (FADS6), mRNA.							94.0	98.0	97.0					17																	72874555		2063	4176	6239	SO:0001583	missense	283985				fatty acid biosynthetic process	integral to membrane	oxidoreductase activity	g.chr17:72874555C>T	AK094411	CCDS54163.1	17q25.1	2014-07-17	2013-01-25			ENSG00000172782		"""Fatty acid desaturases"""	30459	protein-coding gene	gene with protein product			"""fatty acid desaturase domain family, member 6"""				Standard	XM_005257224		Approved		uc002jmd.1	Q8N9I5		ENST00000310226.6:c.958G>A	17.37:g.72874555C>T	ENSP00000307821:p.Glu320Lys					FADS6_uc010wrn.1_Missense_Mutation_p.E174K	p.E320K	NM_178128	NP_835229	Q8N9I5	FADS6_HUMAN			5	970	-	all_lung(278;0.172)|Lung NSC(278;0.207)		326					Q17RQ7|Q6XYE1	Missense_Mutation	SNP	ENST00000310226.6	37	c.958G>A	CCDS54163.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	20.6	4.022747	0.75275	.	.	ENSG00000172782	ENST00000310226;ENST00000413142	T	0.17370	2.28	5.49	4.5	0.54988	Fatty acid desaturase, type 1 (1);	0.052904	0.64402	D	0.000001	T	0.31827	0.0809	M	0.72894	2.215	0.47584	D	0.999462	P;D	0.63046	0.934;0.992	P;P	0.52856	0.585;0.711	T	0.08330	-1.0727	10	0.29301	T	0.29	-1.0603	16.0906	0.81088	0.0:0.8658:0.1342:0.0	.	174;326	B4DEP0;Q8N9I5	.;FADS6_HUMAN	K	320;174	ENSP00000307821:E320K	ENSP00000307821:E320K	E	-	1	0	FADS6	70386150	0.999000	0.42202	0.975000	0.42487	0.037000	0.13140	4.135000	0.57997	1.281000	0.44480	0.655000	0.94253	GAG		0.587	FADS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445219.1			20	65	0	0	0	1	0	20	65				
SI	6476	broad.mit.edu	37	3	164741469	164741469	+	Silent	SNP	T	T	A			TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr3:164741469T>A	ENST00000264382.3	-	26	3050	c.2988A>T	c.(2986-2988)acA>acT	p.T996T		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	996	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	GGAGGTCAGCTGTTATACCCA	0.403										HNSCC(35;0.089)																												uc003fei.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(2986-2988)acA>acT		Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	Acarbose(DB00284)						137.0	130.0	132.0					3																	164741469		2203	4300	6503	SO:0001819	synonymous_variant	6476				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164741469T>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.2988A>T	3.37:g.164741469T>A		HNSCC(35;0.089)					p.T996T	NM_001041	NP_001032	P14410	SUIS_HUMAN			25	3051	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	996			Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Silent	SNP	ENST00000264382.3	37	c.2988A>T	CCDS3196.1																																																																																				0.403	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		29	75	0	0	0	1	0	29	75				
HCN1	348980	broad.mit.edu	37	5	45262699	45262699	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr5:45262699G>A	ENST00000303230.4	-	8	2054	c.1997C>T	c.(1996-1998)cCg>cTg	p.P666L		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	666					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TGTGTACACCGGTGGAGATTG	0.577																																						uc003jok.3																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(1996-1998)cCg>cTg		Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.							153.0	149.0	150.0					5																	45262699		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262699G>A	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1997C>T	5.37:g.45262699G>A	ENSP00000307342:p.Pro666Leu						p.P666L	NM_021072	NP_066550	O60741	HCN1_HUMAN			7	2022	-			666						Missense_Mutation	SNP	ENST00000303230.4	37	c.1997C>T	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.906252	0.33628	.	.	ENSG00000164588	ENST00000303230	D	0.97404	-4.37	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000009	D	0.94928	0.8360	L	0.44542	1.39	0.58432	D	0.999998	B	0.20988	0.05	B	0.12837	0.008	D	0.92028	0.5631	10	0.28530	T	0.3	.	19.1659	0.93557	0.0:0.0:1.0:0.0	.	666	O60741	HCN1_HUMAN	L	666	ENSP00000307342:P666L	ENSP00000307342:P666L	P	-	2	0	HCN1	45298456	0.632000	0.27172	0.938000	0.37757	0.722000	0.41435	2.974000	0.49272	2.528000	0.85240	0.563000	0.77884	CCG		0.577	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		4	103	0	0	0	1	0	4	103				
KIF4B	285643	broad.mit.edu	37	5	154395057	154395057	+	Silent	SNP	C	C	T	rs191490719	byFrequency	TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr5:154395057C>T	ENST00000435029.4	+	1	1798	c.1638C>T	c.(1636-1638)aaC>aaT	p.N546N		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	546					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGACTCAGAACGACAACCAAC	0.418													C|||	5	0.000998403	0.0	0.0043	5008	,	,		22175	0.0		0.002	False		,,,				2504	0.0					uc010jih.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(1636-1638)aaC>aaT		Homo sapiens kinesin family member 4B (KIF4B), mRNA.		C		0,4406		0,0,2203	72.0	72.0	72.0		1638	-3.0	0.0	5		72	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	KIF4B	NM_001099293.1		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		546/1235	154395057	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154395057C>T	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.1638C>T	5.37:g.154395057C>T							p.N546N	NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		0	1798	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	546						Silent	SNP	ENST00000435029.4	37	c.1638C>T	CCDS47324.1																																																																																				0.418	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			22	50	0	0	0	1	0	22	50				
ARFGEF2	10564	broad.mit.edu	37	20	47611021	47611021	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr20:47611021C>T	ENST00000371917.4	+	22	3007	c.3007C>T	c.(3007-3009)Cag>Tag	p.Q1003*		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1003					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)	p.Q1003E(1)		breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			GGAGCTCGCTCAGCTGATAGG	0.493																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	uc002xtx.4																			1	Substitution - Missense(1)	p.Q1003E(2)	lung(1)	breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63						c.(3007-3009)Cag>Tag		Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.							71.0	66.0	68.0					20																	47611021		2203	4300	6503	SO:0001587	stop_gained	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	Golgi membrane|cytosol	ARF guanyl-nucleotide exchange factor activity	g.chr20:47611021C>T	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.3007C>T	20.37:g.47611021C>T	ENSP00000360985:p.Gln1003*					ARFGEF2_uc010zyf.2_Nonsense_Mutation_p.Q296*	p.Q1003*	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		21	3159	+			1003					Q5TFT9|Q9NTS1	Nonsense_Mutation	SNP	ENST00000371917.4	37	c.3007C>T	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	C	41	8.774711	0.98950	.	.	ENSG00000124198	ENST00000371917	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.0965	0.97849	0.0:1.0:0.0:0.0	.	.	.	.	X	1003	.	ENSP00000360985:Q1003X	Q	+	1	0	ARFGEF2	47044428	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.776000	0.85560	2.824000	0.97209	0.655000	0.94253	CAG		0.493	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		20	66	0	0	0	1	0	20	66				
MYH13	8735	broad.mit.edu	37	17	10209906	10209906	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr17:10209906G>A	ENST00000418404.3	-	36	5499	c.5336C>T	c.(5335-5337)aCc>aTc	p.T1779I	MYH13_ENST00000252172.4_Missense_Mutation_p.T1779I|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1779					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GTGGGCGCTGGTGTCCTGTTC	0.592																																						uc002gmk.1																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(5335-5337)aCc>aTc		Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.							101.0	100.0	100.0					17																	10209906		2203	4300	6503	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity	g.chr17:10209906G>A	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.5336C>T	17.37:g.10209906G>A	ENSP00000404570:p.Thr1779Ile						p.T1779I	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			36	5426	-			1779					O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.5336C>T	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.598954	0.87055	.	.	ENSG00000006788	ENST00000252172	T	0.78003	-1.14	4.35	4.35	0.52113	Myosin tail (1);	.	.	.	.	D	0.90075	0.6900	H	0.95574	3.69	0.49213	D	0.999769	P	0.44816	0.844	P	0.55749	0.783	D	0.92652	0.6134	9	0.56958	D	0.05	.	17.4414	0.87566	0.0:0.0:1.0:0.0	.	1779	Q9UKX3	MYH13_HUMAN	I	1779	ENSP00000252172:T1779I	ENSP00000252172:T1779I	T	-	2	0	MYH13	10150631	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.610000	0.98337	2.417000	0.82017	0.591000	0.81541	ACC		0.592	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		26	129	0	0	0	1	0	26	129				
GALNT16	57452	broad.mit.edu	37	14	69795278	69795278	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr14:69795278G>A	ENST00000337827.4	+	6	1007	c.680G>A	c.(679-681)cGg>cAg	p.R227Q	GALNT16_ENST00000448469.3_Missense_Mutation_p.R227Q|GALNT16_ENST00000553669.1_Missense_Mutation_p.R227Q	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2	Q8N428	GLT16_HUMAN	polypeptide N-acetylgalactosaminyltransferase 16	227	Catalytic subdomain A.				protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										ATGCTGCAGCGGGTGAAGGAG	0.622																																						uc001xlb.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|stomach(2)	24						c.(679-681)cGg>cAg		Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1 (GALNTL1), transcript variant 2, mRNA.							62.0	61.0	61.0					14																	69795278		2202	4300	6502	SO:0001583	missense	57452					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr14:69795278G>A	AB032956	CCDS32107.1	14q24.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000100626	ENSG00000100626	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23233	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 16"""	615132	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16"""	GALNTL1		10574461, 22186971	Standard	NM_020692		Approved	KIAA1130, GalNAc-T16	uc010aqu.2	Q8N428	OTTHUMG00000171231	ENST00000337827.4:c.680G>A	14.37:g.69795278G>A	ENSP00000336729:p.Arg227Gln					GALNTL1_uc001xla.2_Missense_Mutation_p.R227Q|GALNTL1_uc010aqu.2_Missense_Mutation_p.R227Q	p.R227Q	NM_020692	NP_065743	Q8N428	GLTL1_HUMAN		all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656)	5	1007	+			227			Catalytic subdomain A.		Q4KMG3|Q58A55|Q9ULT9	Missense_Mutation	SNP	ENST00000337827.4	37	c.680G>A	CCDS32107.1	.	.	.	.	.	.	.	.	.	.	G	33	5.283848	0.95489	.	.	ENSG00000100626	ENST00000337827;ENST00000448469;ENST00000553669	T;T;T	0.61627	0.09;0.09;0.09	5.59	4.7	0.59300	Glycosyl transferase, family 2 (1);	0.050258	0.85682	D	0.000000	T	0.63177	0.2489	M	0.79123	2.44	0.80722	D	1	D;D	0.71674	0.991;0.998	B;P	0.45753	0.235;0.492	T	0.70872	-0.4754	10	0.87932	D	0	.	13.8954	0.63768	0.0739:0.0:0.9261:0.0	.	227;227	Q8N428;Q58A55	GLTL1_HUMAN;.	Q	227	ENSP00000336729:R227Q;ENSP00000402970:R227Q;ENSP00000451200:R227Q	ENSP00000336729:R227Q	R	+	2	0	GALNTL1	68865031	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.095000	0.94175	1.366000	0.46076	0.563000	0.77884	CGG		0.622	GALNT16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412434.1	NM_001168368		24	62	0	0	0	1	0	24	62				
ARRB1	408	broad.mit.edu	37	11	74979939	74979939	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr11:74979939G>A	ENST00000420843.2	-	14	1184	c.1087C>T	c.(1087-1089)Cgg>Tgg	p.R363W	ARRB1_ENST00000393505.4_Missense_Mutation_p.R363W|ARRB1_ENST00000360025.3_Missense_Mutation_p.R355W	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1	363	Interaction with TRAF6.				activation of MAPK activity (GO:0000187)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein ubiquitination (GO:0031397)|Notch signaling pathway (GO:0007219)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of GTPase activity (GO:0043547)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H4 acetylation (GO:0090240)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-Golgi vesicle-mediated transport (GO:0006892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)|transcription from RNA polymerase II promoter (GO:0006366)	basolateral plasma membrane (GO:0016323)|chromatin (GO:0000785)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|pseudopodium (GO:0031143)	angiotensin receptor binding (GO:0031701)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|enzyme inhibitor activity (GO:0004857)|GTPase activator activity (GO:0005096)|insulin-like growth factor receptor binding (GO:0005159)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						TCACCTTCCCGATGCGGGGGT	0.627																																						uc001owe.2																			0		p.T362R(2)		breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						c.(1087-1089)Cgg>Tgg		Homo sapiens arrestin, beta 1 (ARRB1), transcript variant 1, mRNA.							113.0	103.0	106.0					11																	74979939		2200	4293	6493	SO:0001583	missense	408				G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction|positive regulation of histone acetylation|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	Golgi membrane|chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	GTPase activator activity|angiotensin receptor binding|enzyme inhibitor activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding	g.chr11:74979939G>A	BC003636	CCDS31640.1, CCDS44684.1	11q13	2008-12-11			ENSG00000137486	ENSG00000137486			711	protein-coding gene	gene with protein product	"""arrestin 2"""	107940		ARR1		8486659	Standard	NM_004041		Approved		uc001owe.2	P49407	OTTHUMG00000165444	ENST00000420843.2:c.1087C>T	11.37:g.74979939G>A	ENSP00000409581:p.Arg363Trp					ARRB1_uc001owf.2_Missense_Mutation_p.R355W	p.R363W	NM_004041	NP_004032	P49407	ARRB1_HUMAN			13	1311	-			363			Interaction with TRAF6.		B6V9G8|O75625|O75630|Q2PP20|Q9BTK8	Missense_Mutation	SNP	ENST00000420843.2	37	c.1087C>T	CCDS44684.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	17.39|17.39	3.377075|3.377075	0.61735|0.61735	.|.	.|.	ENSG00000137486|ENSG00000137486	ENST00000420843;ENST00000393505;ENST00000360025|ENST00000532447	T;T;T|.	0.10763|.	2.84;2.84;2.84|.	4.58|4.58	3.64|3.64	0.41730|0.41730	Immunoglobulin E-set (1);Arrestin, C-terminal (1);|.	0.472640|.	0.17750|.	U|.	0.163262|.	T|T	0.33818|0.33818	0.0876|0.0876	N|N	0.08118|0.08118	0|0	0.37812|0.37812	D|D	0.928082|0.928082	D;P|.	0.63046|.	0.992;0.897|.	P;B|.	0.50970|.	0.655;0.17|.	T|T	0.22871|0.22871	-1.0204|-1.0204	10|5	0.87932|.	D|.	0|.	-2.2881|-2.2881	10.0213|10.0213	0.42044|0.42044	0.1003:0.0:0.8997:0.0|0.1003:0.0:0.8997:0.0	.|.	355;363|.	P49407-2;P49407|.	.;ARRB1_HUMAN|.	W|L	363;363;355|179	ENSP00000409581:R363W;ENSP00000377141:R363W;ENSP00000353124:R355W|.	ENSP00000353124:R355W|.	R|S	-|-	1|2	2|0	ARRB1|ARRB1	74657587|74657587	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.792000|0.792000	0.44763|0.44763	2.389000|2.389000	0.44407|0.44407	2.277000|2.277000	0.76020|0.76020	0.550000|0.550000	0.68814|0.68814	CGG|TCG		0.627	ARRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384092.3	NM_004041		49	108	0	0	0	1	0	49	108				
CEP192	55125	broad.mit.edu	37	18	13068880	13068880	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr18:13068880G>A	ENST00000325971.8	+	23	4657	c.3064G>A	c.(3064-3066)Gca>Aca	p.A1022T	CEP192_ENST00000430049.2_Missense_Mutation_p.A1143T|CEP192_ENST00000506447.1_Missense_Mutation_p.A1618T			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1022					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AGAATTCTCGGCAAAAGTTGA	0.438																																						uc010xac.2																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(4852-4854)Gca>Aca		Homo sapiens centrosomal protein 192kDa (CEP192), mRNA.							92.0	93.0	92.0					18																	13068880		2203	4300	6503	SO:0001583	missense	55125							g.chr18:13068880G>A	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.3064G>A	18.37:g.13068880G>A	ENSP00000317156:p.Ala1022Thr					CEP192_uc010dlf.1_Non-coding_Transcript|CEP192_uc010xad.2_Missense_Mutation_p.A1143T|CEP192_uc002kru.3_Non-coding_Transcript|CEP192_uc002krv.3_Missense_Mutation_p.A40T	p.A1618T	NM_032142	NP_115518	B7ZMF0	B7ZMF0_HUMAN			24	4932	+			1213					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37	c.4852G>A		.	.	.	.	.	.	.	.	.	.	G	21.9	4.220221	0.79464	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.60424	0.19;0.19;0.19	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.77089	0.4079	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.981;0.992;0.971	T	0.77338	-0.2625	10	0.72032	D	0.01	-22.7992	20.3473	0.98799	0.0:0.0:1.0:0.0	.	1143;1618;220	C9JT09;E9PF99;Q9HCK3	.;.;.	T	1618;1022;1022;1143	ENSP00000427550:A1618T;ENSP00000317156:A1022T;ENSP00000389190:A1143T	ENSP00000317156:A1022T	A	+	1	0	CEP192	13058880	1.000000	0.71417	1.000000	0.80357	0.036000	0.12997	8.619000	0.90938	2.884000	0.98904	0.655000	0.94253	GCA		0.438	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		4	156	0	0	0	1	0	4	156				
CD300LF	146722	broad.mit.edu	37	17	72692351	72692351	+	Missense_Mutation	SNP	C	C	T	rs149416788		TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr17:72692351C>T	ENST00000326165.6	-	5	676	c.565G>A	c.(565-567)Ggg>Agg	p.G189R	RAB37_ENST00000340415.3_Intron|RAB37_ENST00000402449.4_Intron|CD300LF_ENST00000469092.1_Missense_Mutation_p.R154Q|CD300LF_ENST00000583937.1_Missense_Mutation_p.G204R|CD300LF_ENST00000343125.4_Missense_Mutation_p.R154Q|CD300LF_ENST00000581500.1_Intron|CD300LF_ENST00000464910.1_Missense_Mutation_p.G192R|CD300LF_ENST00000301573.9_Missense_Mutation_p.R204Q|CD300LF_ENST00000361254.4_Intron	NM_139018.3	NP_620587.2	Q8TDQ1	CLM1_HUMAN	CD300 molecule-like family member f	189					immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GGGGACATCCCGGCTGCTAAA	0.493																																						uc010wra.2																			0				endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(610-612)Ggg>Agg		Homo sapiens CD300 molecule-like family member f (CD300LF), mRNA.		C	ARG/GLY,	0,4406		0,0,2203	103.0	110.0	108.0		565,	3.9	0.0	17	dbSNP_134	108	1,8599	1.2+/-3.3	0,1,4299	no	missense,intron	CD300LF,RAB37	NM_139018.3,NM_175738.4	125,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,	189/291,	72692351	1,13005	2203	4300	6503	SO:0001583	missense	146722					integral to membrane|plasma membrane	receptor activity	g.chr17:72692351C>T	BC028199	CCDS11704.1, CCDS74148.1, CCDS74149.1, CCDS74150.1, CCDS74151.1, CCDS74152.1	17q25.2	2013-01-11	2006-03-29		ENSG00000186074	ENSG00000186074		"""Immunoglobulin superfamily / V-set domain containing"""	29883	protein-coding gene	gene with protein product		609807	"""CD300 antigen like family member F"""			12975309	Standard	NM_139018		Approved	IREM1, NKIR, IGSF13, CD300f, CLM1	uc002jlg.3	Q8TDQ1	OTTHUMG00000067609	ENST00000326165.6:c.565G>A	17.37:g.72692351C>T	ENSP00000327075:p.Gly189Arg					RAB37_uc002jlc.2_Intron|RAB37_uc002jld.2_Intron|RAB37_uc010dfu.3_Intron|CD300LF_uc002jlf.3_Missense_Mutation_p.G192R|CD300LF_uc010dfw.3_Intron|CD300LF_uc002jlg.3_Missense_Mutation_p.G189R|CD300LF_uc002jlh.3_Missense_Mutation_p.R204Q|CD300LF_uc002jli.3_Missense_Mutation_p.R154Q|CD300LF_uc002jlj.1_Intron	p.G204R	NM_139018	NP_620587	Q8TDQ1	CLM1_HUMAN			4	713	-			189					B2RCL2|C9JDN3|Q3Y6P0|Q6UX24|Q7Z6A6|Q7Z7I4|Q7Z7I5|Q8N6D0|Q8NAF5	Missense_Mutation	SNP	ENST00000326165.6	37	c.610G>A	CCDS11704.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.499|8.499	0.863862|0.863862	0.17250|0.17250	0.0|0.0	1.16E-4|1.16E-4	ENSG00000186074|ENSG00000186074	ENST00000326165|ENST00000301573;ENST00000343125	T|T;T	0.42513|0.08807	0.97|3.05;3.64	3.87|3.87	3.87|3.87	0.44632|0.44632	.|.	2.329780|.	0.02034|.	N|.	0.048779|.	T|T	0.07728|0.07728	0.0194|0.0194	M|M	0.64404|0.64404	1.975|1.975	0.09310|0.09310	N|N	1|1	D;D;D|B;P	0.56035|0.42248	0.974;0.974;0.961|0.09;0.774	P;P;P|B;B	0.46076|0.25759	0.499;0.499;0.503|0.016;0.063	T|T	0.27536|0.27536	-1.0071|-1.0071	10|9	0.72032|0.22706	D|T	0.01|0.39	.|.	11.6348|11.6348	0.51198|0.51198	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	204;189;192|154;204	E7EME0;Q8TDQ1;Q8TDQ1-6|Q8TDQ1-4;Q8TDQ1-5	.;CLM1_HUMAN;.|.;.	R|Q	189|204;154	ENSP00000327075:G189R|ENSP00000301573:R204Q;ENSP00000343751:R154Q	ENSP00000327075:G189R|ENSP00000301573:R204Q	G|R	-|-	1|2	0|0	CD300LF|CD300LF	70203946|70203946	0.050000|0.050000	0.20438|0.20438	0.011000|0.011000	0.14972|0.14972	0.003000|0.003000	0.03518|0.03518	2.682000|2.682000	0.46934|0.46934	2.467000|2.467000	0.83353|0.83353	0.655000|0.655000	0.94253|0.94253	GGG|CGG		0.493	CD300LF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000145085.1	NM_139018		5	211	0	0	0	1	0	5	211				
ATL1	51062	broad.mit.edu	37	14	51054695	51054695	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr14:51054695G>A	ENST00000358385.6	+	2	422	c.181G>A	c.(181-183)Gct>Act	p.A61T	ATL1_ENST00000354525.4_Missense_Mutation_p.A61T|ATL1_ENST00000441560.2_Missense_Mutation_p.A61T|ATL1_ENST00000357032.3_Missense_Mutation_p.A61T	NM_015915.4	NP_056999.2	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1	61					axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						TCTCTCGGAGGCTGTCAGAGA	0.433																																						uc021rsw.1																			0				central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						c.(181-183)Gct>Act		Homo sapiens atlastin GTPase 1 (ATL1), transcript variant 1, mRNA.							192.0	174.0	180.0					14																	51054695		2203	4300	6503	SO:0001583	missense	51062				axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	Golgi cis cisterna|Golgi membrane|axon|endoplasmic reticulum membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding	g.chr14:51054695G>A	AF131801	CCDS9700.1, CCDS32077.1	14q21.3	2014-09-17	2008-09-17	2008-09-17	ENSG00000198513	ENSG00000198513			11231	protein-coding gene	gene with protein product	"""atlastin"""	606439	"""spastic paraplegia 3A (autosomal dominant)"""	SPG3, SPG3A		8252041, 7825576	Standard	NM_015915		Approved	FSP1, AD-FSP	uc001wyd.4	Q8WXF7	OTTHUMG00000140297	ENST00000358385.6:c.181G>A	14.37:g.51054695G>A	ENSP00000351155:p.Ala61Thr					ATL1_uc001wyd.4_Missense_Mutation_p.A61T|ATL1_uc001wyf.4_Missense_Mutation_p.A61T|ATL1_uc001wye.4_Missense_Mutation_p.A61T|ATL1_uc021rsx.1_Missense_Mutation_p.A61T	p.A61T	NM_015915	NP_056999	Q8WXF7	ATLA1_HUMAN			1	422	+			61					A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Missense_Mutation	SNP	ENST00000358385.6	37	c.181G>A	CCDS9700.1	.	.	.	.	.	.	.	.	.	.	G	15.15	2.748770	0.49257	.	.	ENSG00000198513	ENST00000441560;ENST00000555960;ENST00000358385;ENST00000357032;ENST00000354525	T;T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83;-0.83	6.02	5.12	0.69794	Guanylate-binding protein, N-terminal (1);	0.051252	0.85682	D	0.000000	T	0.63498	0.2516	L	0.27053	0.805	0.48185	D	0.999606	B;B	0.19706	0.038;0.015	B;B	0.21546	0.035;0.02	T	0.57670	-0.7771	10	0.19147	T	0.46	-10.6193	16.438	0.83884	0.0:0.1313:0.8687:0.0	.	61;61	Q8WXF7;G5E9T1	ATLA1_HUMAN;.	T	61	ENSP00000413675:A61T;ENSP00000452506:A61T;ENSP00000351155:A61T;ENSP00000349534:A61T;ENSP00000346522:A61T	ENSP00000346522:A61T	A	+	1	0	ATL1	50124445	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.980000	0.56895	1.550000	0.49438	0.650000	0.86243	GCT		0.433	ATL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276884.2			6	278	0	0	0	1	0	6	278				
SYNE2	23224	broad.mit.edu	37	14	64678781	64678781	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr14:64678781G>C	ENST00000344113.4	+	104	19038	c.18826G>C	c.(18826-18828)Gag>Cag	p.E6276Q	SYNE2_ENST00000555002.1_Missense_Mutation_p.E2910Q|SYNE2_ENST00000358025.3_Missense_Mutation_p.E6276Q|SYNE2_ENST00000357395.3_Missense_Mutation_p.E2661Q|SYNE2_ENST00000394768.2_Missense_Mutation_p.E2661Q|SYNE2_ENST00000555022.1_Missense_Mutation_p.E154Q|SYNE2_ENST00000554584.1_Missense_Mutation_p.E6235Q|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554805.1_Missense_Mutation_p.E59Q|SYNE2_ENST00000458046.2_5'Flank	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6276					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GCACTTCTCAGAGAGTGACGC	0.542																																						uc001xgl.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(18826-18828)Gag>Cag		Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.							140.0	131.0	134.0					14																	64678781		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding	g.chr14:64678781G>C	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.18826G>C	14.37:g.64678781G>C	ENSP00000341781:p.Glu6276Gln					SYNE2_uc001xgm.3_Missense_Mutation_p.E6276Q|SYNE2_uc010apy.3_Missense_Mutation_p.E2661Q|SYNE2_uc001xgn.3_Missense_Mutation_p.E1238Q|SYNE2_uc021rui.1_Missense_Mutation_p.E1280Q|SYNE2_uc001xgo.3_Non-coding_Transcript|SYNE2_uc010aqa.3_Missense_Mutation_p.E246Q|SYNE2_uc001xgq.3_Missense_Mutation_p.E641Q|SYNE2_uc001xgr.3_Missense_Mutation_p.E59Q|SYNE2_uc010tsi.2_5'Flank|SYNE2_uc001xgs.3_5'Flank	p.E6276Q	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	103	19056	+			6276					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.18826G>C	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.640026	0.47153	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000555022;ENST00000554805	T;T;T;T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35	5.33	5.33	0.75918	.	0.127117	0.34802	N	0.003674	T	0.50292	0.1607	L	0.60455	1.87	0.80722	D	1	P;P;D;P;D	0.63046	0.883;0.756;0.992;0.879;0.979	P;B;P;P;P	0.57720	0.644;0.285;0.826;0.676;0.784	T	0.50363	-0.8837	10	0.66056	D	0.02	.	13.1763	0.59629	0.0835:0.0:0.9165:0.0	.	2661;664;6235;6276;6276	Q8WXH0-7;Q7Z362;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;SYNE2_HUMAN;.	Q	6276;2661;6276;6235;6241;2910;2661;154;59	ENSP00000350719:E6276Q;ENSP00000349969:E2661Q;ENSP00000341781:E6276Q;ENSP00000452570:E6235Q;ENSP00000450831:E2910Q;ENSP00000378249:E2661Q;ENSP00000451009:E154Q;ENSP00000450605:E59Q	ENSP00000261678:E6241Q	E	+	1	0	SYNE2	63748534	1.000000	0.71417	0.964000	0.40570	0.807000	0.45602	6.476000	0.73587	2.654000	0.90174	0.561000	0.74099	GAG		0.542	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		4	197	0	0	0	1	0	4	197				
NPAS2	4862	broad.mit.edu	37	2	101592002	101592002	+	Silent	SNP	C	C	T	rs140730823		TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr2:101592002C>T	ENST00000335681.5	+	14	1650	c.1365C>T	c.(1363-1365)ccC>ccT	p.P455P	AC016738.3_ENST00000433012.1_RNA|AC016738.3_ENST00000439150.1_RNA|NPAS2_ENST00000542504.1_Silent_p.P520P|AC016738.3_ENST00000446644.1_RNA	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	455					cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|circadian sleep/wake cycle (GO:0042745)|locomotor rhythm (GO:0045475)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of response to DNA damage stimulus (GO:2001020)|response to redox state (GO:0051775)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|Hsp90 protein binding (GO:0051879)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TACCTGTCCCCGGGCTCAGCC	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		16170	0.0		0.001	False		,,,				2504	0.0					uc010yvt.1																			0				cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1558-1560)ccC>ccT		Homo sapiens neuronal PAS domain protein 2 (NPAS2), mRNA.		C		0,4406		0,0,2203	81.0	81.0	81.0		1365	-11.4	0.0	2	dbSNP_134	81	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	NPAS2	NM_002518.3		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		455/825	101592002	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	4862				central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:101592002C>T	U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"""Basic helix-loop-helix proteins"""	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.1365C>T	2.37:g.101592002C>T						NPAS2_uc002tap.1_Silent_p.P455P|NPAS2_uc010fit.1_Silent_p.P33P	p.P520P	NM_002518	NP_002509	Q99743	NPAS2_HUMAN			13	1562	+			455					Q4ZFV9|Q53SQ3|Q86V96|Q99629	Silent	SNP	ENST00000335681.5	37	c.1560C>T	CCDS2048.1																																																																																				0.612	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253168.3			6	256	0	0	0	1	0	6	256				
SNX7	51375	broad.mit.edu	37	1	99161131	99161131	+	Missense_Mutation	SNP	G	G	T	rs201834277		TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr1:99161131G>T	ENST00000306121.3	+	5	706	c.697G>T	c.(697-699)Gtc>Ttc	p.V233F	SNX7_ENST00000370189.5_Missense_Mutation_p.V169F|SNX7_ENST00000529992.1_Missense_Mutation_p.V178F	NM_015976.4	NP_057060.2	Q9UNH6	SNX7_HUMAN	sorting nexin 7	169					apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		GGGGCAAACCGTCAGAGCTGT	0.403																																						uc010ouc.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13						c.(697-699)Gtc>Ttc		Homo sapiens sorting nexin 7 (SNX7), transcript variant 1, mRNA.							61.0	70.0	67.0					1																	99161131		2203	4300	6503	SO:0001583	missense	51375				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	g.chr1:99161131G>T	AF121857	CCDS755.2, CCDS756.1, CCDS756.2	1p21	2008-05-22			ENSG00000162627	ENSG00000162627		"""Sorting nexins"""	14971	protein-coding gene	gene with protein product		614904					Standard	NM_015976		Approved		uc010ouc.2	Q9UNH6	OTTHUMG00000010723	ENST00000306121.3:c.697G>T	1.37:g.99161131G>T	ENSP00000304429:p.Val233Phe					SNX7_uc001dsa.3_Missense_Mutation_p.V169F|SNX7_uc010oud.2_Missense_Mutation_p.V178F	p.V233F	NM_015976	NP_057060	Q9UNH6	SNX7_HUMAN		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)	4	749	+		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)	169					A8KAF3|D3DT50|Q53FQ3|Q5VT09|Q5VT10|Q86U82|Q8WVD4|Q96FW9|Q9Y3Z7	Missense_Mutation	SNP	ENST00000306121.3	37	c.697G>T	CCDS755.2	.	.	.	.	.	.	.	.	.	.	G	15.80	2.940974	0.52972	.	.	ENSG00000162627	ENST00000370189;ENST00000529992;ENST00000306121	T;T;T	0.35605	1.35;1.99;1.3	5.66	5.66	0.87406	.	0.304718	0.35525	N	0.003159	T	0.44498	0.1296	M	0.68593	2.085	0.52099	D	0.999947	D;P;D	0.89917	1.0;0.885;0.979	D;P;P	0.79784	0.993;0.56;0.892	T	0.22871	-1.0204	10	0.16420	T	0.52	-15.7585	13.3367	0.60522	0.0724:0.0:0.9276:0.0	.	178;233;169	E9PNL2;Q9UNH6-3;Q9UNH6-2	.;.;.	F	169;178;233	ENSP00000359208:V169F;ENSP00000434731:V178F;ENSP00000304429:V233F	ENSP00000304429:V233F	V	+	1	0	SNX7	98933719	1.000000	0.71417	0.954000	0.39281	0.136000	0.21042	5.411000	0.66386	2.826000	0.97356	0.655000	0.94253	GTC		0.403	SNX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029609.2			33	75	0	0	0	1	0	33	75				
ZC3H13	23091	broad.mit.edu	37	13	46563027	46563027	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr13:46563027T>C	ENST00000242848.4	-	9	1498	c.1150A>G	c.(1150-1152)Aga>Gga	p.R384G	ZC3H13_ENST00000282007.3_Missense_Mutation_p.R384G			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	384	Arg/Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CTCTGCTTTCTCTGGGGAGAC	0.483																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	uc010tfw.1																			0				cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79						c.(1150-1152)Aga>Gga		Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA.							139.0	122.0	128.0					13																	46563027		2203	4300	6503	SO:0001583	missense	23091						nucleic acid binding|zinc ion binding	g.chr13:46563027T>C	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.1150A>G	13.37:g.46563027T>C	ENSP00000242848:p.Arg384Gly					ZC3H13_uc001vas.1_Missense_Mutation_p.R384G|ZC3H13_uc001vat.1_Missense_Mutation_p.R384G	p.R384G	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	7	1156	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	384			Arg/Ser-rich.		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	37	c.1150A>G		.	.	.	.	.	.	.	.	.	.	T	12.73	2.025111	0.35701	.	.	ENSG00000123200	ENST00000242848;ENST00000282007;ENST00000431251	T;T	0.45276	2.06;0.9	6.03	4.84	0.62591	.	0.000000	0.64402	D	0.000002	T	0.37598	0.1009	L	0.36672	1.1	0.80722	D	1	P;P	0.41848	0.651;0.763	B;B	0.42282	0.212;0.382	T	0.20571	-1.0271	10	0.62326	D	0.03	.	12.682	0.56926	0.0:0.0:0.2599:0.7401	.	384;384	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	G	384;384;200	ENSP00000242848:R384G;ENSP00000282007:R384G	ENSP00000242848:R384G	R	-	1	2	ZC3H13	45461028	0.996000	0.38824	1.000000	0.80357	0.991000	0.79684	1.659000	0.37387	1.073000	0.40885	0.533000	0.62120	AGA		0.483	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		5	56	0	0	0	1	0	5	56				
GCN1L1	10985	broad.mit.edu	37	12	120589045	120589045	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr12:120589045C>G	ENST00000300648.6	-	34	4225	c.4213G>C	c.(4213-4215)Gtg>Ctg	p.V1405L		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1405					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGGCCCTTCACCAGGCCCGCC	0.602																																						uc001txo.3																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(4213-4215)Gtg>Ctg		Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.							50.0	56.0	54.0					12																	120589045		2146	4249	6395	SO:0001583	missense	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120589045C>G	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.4213G>C	12.37:g.120589045C>G	ENSP00000300648:p.Val1405Leu						p.V1405L	NM_006836	NP_006827	Q92616	GCN1L_HUMAN			33	4226	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1405					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	c.4213G>C	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.383151	0.82792	.	.	ENSG00000089154	ENST00000300648	T	0.63744	-0.06	5.28	5.28	0.74379	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.79828	0.4513	M	0.84683	2.71	0.80722	D	1	D	0.61080	0.989	P	0.58970	0.849	D	0.83425	0.0035	10	0.72032	D	0.01	-21.2775	18.9124	0.92491	0.0:1.0:0.0:0.0	.	1405	Q92616	GCN1L_HUMAN	L	1405	ENSP00000300648:V1405L	ENSP00000300648:V1405L	V	-	1	0	GCN1L1	119073428	1.000000	0.71417	1.000000	0.80357	0.488000	0.33401	7.583000	0.82559	2.490000	0.84030	0.561000	0.74099	GTG		0.602	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			5	98	0	0	0	1	0	5	98				
C1orf216	127703	broad.mit.edu	37	1	36181503	36181503	+	Silent	SNP	G	G	A	rs377572339		TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chr1:36181503G>A	ENST00000270815.4	-	2	1190	c.420C>T	c.(418-420)ccC>ccT	p.P140P	C1orf216_ENST00000503824.1_5'Flank	NM_152374.1	NP_689587.1	Q8TAB5	CA216_HUMAN	chromosome 1 open reading frame 216	140										kidney(2)|lung(3)|skin(2)|urinary_tract(1)	8		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				GAAGGGGATCGGGAGGGCCAG	0.617											OREG0013357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001bzh.1																			0				kidney(2)|lung(3)|skin(2)|urinary_tract(1)	8						c.(418-420)ccC>ccT		Homo sapiens chromosome 1 open reading frame 216 (C1orf216), mRNA.		G		0,4406		0,0,2203	103.0	104.0	104.0		420	-4.5	0.0	1		104	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C1orf216	NM_152374.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		140/230	36181503	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	127703							g.chr1:36181503G>A	AK096303	CCDS395.1	1p34.3	2007-08-10			ENSG00000142686	ENSG00000142686			26800	protein-coding gene	gene with protein product						12477932	Standard	NM_152374		Approved	FLJ38984	uc001bzh.1	Q8TAB5	OTTHUMG00000004167	ENST00000270815.4:c.420C>T	1.37:g.36181503G>A			OREG0013357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	861	C1orf216_uc021oli.1_Silent_p.P140P	p.P140P	NM_152374	NP_689587	Q8TAB5	CA216_HUMAN			1	908	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)	140					D3DPS1|Q8N8N6	Silent	SNP	ENST00000270815.4	37	c.420C>T	CCDS395.1																																																																																				0.617	C1orf216-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012013.3	NM_152374		7	198	0	0	0	1	0	7	198				
MECP2	4204	broad.mit.edu	37	X	153363113	153363113	+	5'UTR	DEL	C	C	-			TCGA-DJ-A13R-01A-11D-A10S-08	TCGA-DJ-A13R-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f039593-91d1-43cb-a06b-41e92f7e8d20	97808f8d-720c-41c2-ba0d-59922e48a182	g.chrX:153363113delC	ENST00000303391.6	-	0	99				MECP2_ENST00000453960.2_Frame_Shift_Del_p.A8fs|MECP2_ENST00000407218.1_5'UTR	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2						adult locomotory behavior (GO:0008344)|behavioral fear response (GO:0001662)|cardiolipin metabolic process (GO:0032048)|catecholamine secretion (GO:0050432)|cerebellum development (GO:0021549)|chromatin silencing (GO:0006342)|dendrite development (GO:0016358)|glucocorticoid metabolic process (GO:0008211)|glutamine metabolic process (GO:0006541)|histone acetylation (GO:0016573)|histone methylation (GO:0016571)|inositol metabolic process (GO:0006020)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone methylation (GO:0031061)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron maturation (GO:0042551)|pathogenesis (GO:0009405)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|proprioception (GO:0019230)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|startle response (GO:0001964)|synapse assembly (GO:0007416)|transcription, DNA-templated (GO:0006351)|ventricular system development (GO:0021591)|visual learning (GO:0008542)	cytosol (GO:0005829)|extracellular space (GO:0005615)|heterochromatin (GO:0000792)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|siRNA binding (GO:0035197)|transcription corepressor activity (GO:0003714)			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					gcggcggcggcggcggcCATT	0.776																																						uc004fjw.2																			0				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23						c.(10-12)gccfs		Homo sapiens methyl CpG binding protein 2 (Rett syndrome) (MECP2), transcript variant 2, mRNA.							4.0	5.0	5.0					X																	153363113		900	2350	3250	SO:0001623	5_prime_UTR_variant	4204				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein N-terminus binding|protein domain specific binding|transcription corepressor activity	g.chrX:153363113delC	AF158180	CCDS14741.1, CCDS48193.1	Xq28	2014-09-17	2014-06-18		ENSG00000169057	ENSG00000169057			6990	protein-coding gene	gene with protein product		300005	"""mental retardation, X-linked 16"", ""mental retardation, X-linked 79"", ""Rett syndrome"", ""methyl CpG binding protein 2 (Rett syndrome)"""	RTT, MRX16, MRX79		1606614, 10508514	Standard	NM_004992		Approved		uc004fjw.2	P51608	OTTHUMG00000024229	ENST00000303391.6:c.-151G>-	X.37:g.153363113delC						MECP2_uc004fjv.2_5'UTR	p.A4fs	NM_001110792	NP_001104262	P51608	MECP2_HUMAN			0	76	-	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		0					O15233|Q6QHH9|Q7Z384	Frame_Shift_Del	DEL	ENST00000303391.6	37	c.10delG	CCDS14741.1																																																																																				0.776	MECP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061144.1	NM_004992		2	4						2	4	---	---	---	---
