#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
NYNRIN	57523	broad.mit.edu	37	14	24884570	24884570	+	Silent	SNP	G	G	A			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr14:24884570G>A	ENST00000382554.3	+	9	3933	c.3615G>A	c.(3613-3615)ggG>ggA	p.G1205G		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1205					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CCCAGTCAGGGGGTGACAGCC	0.622																																						ENST00000382554.3																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(3613-3615)ggG>ggA		NYN domain and retroviral integrase containing							65.0	71.0	69.0					14																	24884570		1907	4106	6013	SO:0001819	synonymous_variant	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24884570G>A	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.3615G>A	14.37:g.24884570G>A							p.G1205G	NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN			9	3933	+			1205					Q6P153|Q86TR3|Q9HAC4	Silent	SNP	ENST00000382554.3	37	c.3615G>A	CCDS45090.1																																																																																				0.622	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			10	76	0	0	0	1	0	10	76				
NMUR2	56923	broad.mit.edu	37	5	151772005	151772005	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr5:151772005C>T	ENST00000255262.3	-	4	1160	c.995G>A	c.(994-996)cGc>cAc	p.R332H		NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	332					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|arachidonic acid secretion (GO:0050482)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell-cell signaling (GO:0007267)|central nervous system development (GO:0007417)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|feeding behavior (GO:0007631)|grooming behavior (GO:0007625)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|reduction of food intake in response to dietary excess (GO:0002023)|regulation of smooth muscle contraction (GO:0006940)|response to pain (GO:0048265)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|GTP binding (GO:0005525)|intracellular calcium activated chloride channel activity (GO:0005229)|neuromedin U binding (GO:0042924)|neuromedin U receptor activity (GO:0001607)			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			CTGGAAGCGGCGAGACAGTAG	0.493																																						ENST00000255262.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44						c.(994-996)cGc>cAc		neuromedin U receptor 2							121.0	118.0	119.0					5																	151772005		2203	4300	6503	SO:0001583	missense	56923				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity	g.chr5:151772005C>T	AF242874	CCDS4321.1	5q33.1	2012-08-08		2004-05-28	ENSG00000132911	ENSG00000132911		"""GPCR / Class A : Neuromedin U receptors"""	16454	protein-coding gene	gene with protein product		605108		NMU2R		8940772, 10894543	Standard	NM_020167		Approved		uc003luv.2	Q9GZQ4	OTTHUMG00000130131	ENST00000255262.3:c.995G>A	5.37:g.151772005C>T	ENSP00000255262:p.Arg332His						p.R332H	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)		4	1160	-		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	332					Q7LC54|Q96AM5|Q9NRA6	Missense_Mutation	SNP	ENST00000255262.3	37	c.995G>A	CCDS4321.1	.	.	.	.	.	.	.	.	.	.	c	3.233	-0.157041	0.06544	.	.	ENSG00000132911	ENST00000255262	T	0.39592	1.07	5.0	-2.24	0.06909	.	0.598778	0.16114	N	0.228932	T	0.23370	0.0565	N	0.15975	0.35	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.13656	-1.0501	10	0.41790	T	0.15	-6.2641	12.2546	0.54617	0.0:0.4479:0.0:0.5521	.	332	Q9GZQ4	NMUR2_HUMAN	H	332	ENSP00000255262:R332H	ENSP00000255262:R332H	R	-	2	0	NMUR2	151752198	0.000000	0.05858	0.164000	0.22755	0.848000	0.48234	-1.138000	0.03216	-0.468000	0.06922	-1.399000	0.01144	CGC		0.493	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252439.1	NM_020167		7	114	0	0	0	1	0	7	114				
FOXQ1	94234	broad.mit.edu	37	6	1313285	1313285	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr6:1313285C>T	ENST00000296839.2	+	1	611	c.346C>T	c.(346-348)Cgg>Tgg	p.R116W		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	116					hair follicle morphogenesis (GO:0031069)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		GCCATATACGCGGCGGCCCAA	0.746																																						ENST00000296839.2																			0				lung(1)|urinary_tract(1)	2						c.(346-348)Cgg>Tgg		forkhead box Q1							17.0	20.0	19.0					6																	1313285		2178	4266	6444	SO:0001583	missense	94234				DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding	g.chr6:1313285C>T	AF153341	CCDS4471.1	6p25	2008-02-05			ENSG00000164379	ENSG00000164379		"""Forkhead boxes"""	20951	protein-coding gene	gene with protein product		612788				11747606, 12011061	Standard	NM_033260		Approved	HFH1	uc003mtl.4	Q9C009	OTTHUMG00000016160	ENST00000296839.2:c.346C>T	6.37:g.1313285C>T	ENSP00000296839:p.Arg116Trp						p.R116W	NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)	1	611	+	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)	116					Q9NS06	Missense_Mutation	SNP	ENST00000296839.2	37	c.346C>T	CCDS4471.1	.	.	.	.	.	.	.	.	.	.	C	19.19	3.780091	0.70222	.	.	ENSG00000164379	ENST00000296839	D	0.95001	-3.58	3.77	2.86	0.33363	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.64402	U	0.000002	D	0.93546	0.7940	L	0.40543	1.245	0.49687	D	0.999812	D	0.89917	1.0	D	0.91635	0.999	D	0.93449	0.6800	10	0.87932	D	0	.	11.0004	0.47602	0.1882:0.8118:0.0:0.0	.	116	Q9C009	FOXQ1_HUMAN	W	116	ENSP00000296839:R116W	ENSP00000296839:R116W	R	+	1	2	FOXQ1	1258285	0.998000	0.40836	0.996000	0.52242	0.415000	0.31203	2.468000	0.45102	0.540000	0.28808	0.184000	0.17185	CGG		0.746	FOXQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043410.1	NM_033260		7	38	0	0	0	1	0	7	38				
RUFY3	22902	broad.mit.edu	37	4	71588247	71588247	+	De_novo_Start_OutOfFrame	SNP	T	T	A			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr4:71588247T>A	ENST00000226328.4	+	0	520				RUFY3_ENST00000536664.1_5'Flank|RUFY3_ENST00000381006.3_De_novo_Start_OutOfFrame|RUFY3_ENST00000417478.2_Intron	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3						negative regulation of axonogenesis (GO:0050771)	filopodium (GO:0030175)|growth cone (GO:0030426)				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			tgtgtgtgagtgtgtgtgtgt	0.478																																						ENST00000226328.4																			0				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16								RUN and FYVE domain containing 3							77.0	68.0	71.0					4																	71588247		2203	4300	6503			22902				negative regulation of axonogenesis	filopodium|growth cone		g.chr4:71588247T>A	AF112221	CCDS3547.1, CCDS34001.1, CCDS47068.1, CCDS75138.1	4q13.3	2009-05-29			ENSG00000018189	ENSG00000018189		"""Zinc fingers, FYVE domain containing"""	30285	protein-coding gene	gene with protein product	"""single axon-related 1"""	611194				17439943	Standard	NM_001130709		Approved	RIPx, KIAA0871, Singar1	uc003hfr.3	Q7L099	OTTHUMG00000129910	ENST00000226328.4:c.-44T>A	4.37:g.71588247T>A						RUFY3_ENST00000381006.3_De_novo_Start_OutOfFrame|RUFY3_ENST00000417478.2_Intron		NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	Lung(101;0.235)		0	520	+		all_hematologic(202;0.248)						B3KM25|B4DYW7|D9N163|O94948|Q9UI00	Translation_Start_Site	SNP	ENST00000226328.4	37		CCDS3547.1																																																																																				0.478	RUFY3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252161.2	NM_014961		4	35	0	0	0	1	0	4	35				
SLC1A6	6511	broad.mit.edu	37	19	15073150	15073150	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr19:15073150G>A	ENST00000221742.3	-	5	606	c.599C>T	c.(598-600)aCg>aTg	p.T200M	SLC1A6_ENST00000430939.2_Missense_Mutation_p.T136M|SLC1A6_ENST00000598504.1_Missense_Mutation_p.T200M|SLC1A6_ENST00000544886.2_Missense_Mutation_p.T200M|SLC1A6_ENST00000600144.1_Missense_Mutation_p.T200M	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	200					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						GCTGTACTGCGTCTTGAACTG	0.532																																						ENST00000598504.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(598-600)aCg>aTg		solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	L-Glutamic Acid(DB00142)						100.0	93.0	95.0					19																	15073150		2203	4300	6503	SO:0001583	missense	6511				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr19:15073150G>A		CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"""Solute carriers"""	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.599C>T	19.37:g.15073150G>A	ENSP00000221742:p.Thr200Met					SLC1A6_ENST00000600144.1_Missense_Mutation_p.T200M|SLC1A6_ENST00000544886.2_Missense_Mutation_p.T200M|SLC1A6_ENST00000430939.2_Missense_Mutation_p.T136M|SLC1A6_ENST00000221742.3_Missense_Mutation_p.T200M	p.T200M	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN			8	1958	-			200					Q8N753	Missense_Mutation	SNP	ENST00000221742.3	37	c.599C>T	CCDS12321.1	.	.	.	.	.	.	.	.	.	.	g	21.2	4.110224	0.77210	.	.	ENSG00000105143	ENST00000430939;ENST00000221742;ENST00000544886	T;T;T	0.80214	-1.35;0.01;0.61	4.42	4.42	0.53409	.	0.099717	0.64402	D	0.000002	D	0.91536	0.7327	M	0.92833	3.35	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.994;0.993	D	0.93481	0.6827	10	0.87932	D	0	-7.0532	14.6221	0.68594	0.0:0.0:1.0:0.0	.	136;200;200	E7EV13;Q8N753;P48664	.;.;EAA4_HUMAN	M	136;200;200	ENSP00000409386:T136M;ENSP00000221742:T200M;ENSP00000446175:T200M	ENSP00000221742:T200M	T	-	2	0	SLC1A6	14934150	1.000000	0.71417	0.987000	0.45799	0.910000	0.53928	8.290000	0.89925	2.310000	0.77875	0.454000	0.30748	ACG		0.532	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		15	88	0	0	0	1	0	15	88				
FLNC	2318	broad.mit.edu	37	7	128490958	128490958	+	Missense_Mutation	SNP	C	C	T	rs377141822		TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr7:128490958C>T	ENST00000325888.8	+	33	5761	c.5500C>T	c.(5500-5502)Cac>Tac	p.H1834Y	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.H1801Y	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1834					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GAAAGGCCTGCACCAGATGGG	0.617																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(5500-5502)Cac>Tac		filamin C, gamma		C	TYR/HIS,TYR/HIS	0,4272		0,0,2136	131.0	135.0	134.0		5401,5500	5.5	1.0	7		134	1,8451		0,1,4225	no	missense,missense	FLNC	NM_001127487.1,NM_001458.4	83,83	0,1,6361	TT,TC,CC		0.0118,0.0,0.0079	probably-damaging,probably-damaging	1801/2693,1834/2726	128490958	1,12723	2136	4226	6362	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128490958C>T	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.5500C>T	7.37:g.128490958C>T	ENSP00000327145:p.His1834Tyr					RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.H1801Y	p.H1834Y	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			33	5761	+			1834					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.5500C>T	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.901269	0.92035	0.0	1.18E-4	ENSG00000128591	ENST00000325888;ENST00000346177	T;T	0.38887	1.11;1.11	5.53	5.53	0.82687	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.64091	0.2567	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.998;1.0	T	0.61997	-0.6947	10	0.45353	T	0.12	.	19.4469	0.94851	0.0:1.0:0.0:0.0	.	1801;1834	Q14315-2;Q14315	.;FLNC_HUMAN	Y	1834;1801	ENSP00000327145:H1834Y;ENSP00000344002:H1801Y	ENSP00000327145:H1834Y	H	+	1	0	FLNC	128278194	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.768000	0.85345	2.581000	0.87130	0.655000	0.94253	CAC		0.617	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			16	173	0	0	0	1	0	16	173				
PIGG	54872	broad.mit.edu	37	4	527753	527753	+	Silent	SNP	G	G	A			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr4:527753G>A	ENST00000453061.2	+	12	2824	c.2718G>A	c.(2716-2718)ctG>ctA	p.L906L	PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000310340.5_Silent_p.L898L|PIGG_ENST00000504346.1_Silent_p.L817L|PIGG_ENST00000383028.4_Silent_p.L773L	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	906					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						TGCACTTCCTGAGCTCAGAAA	0.597																																						ENST00000453061.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						c.(2716-2718)ctG>ctA		phosphatidylinositol glycan anchor biosynthesis, class G							66.0	60.0	62.0					4																	527753		2203	4300	6503	SO:0001819	synonymous_variant	54872				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity	g.chr4:527753G>A		CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"""Phosphatidylinositol glycan anchor biosynthesis"""	25985	protein-coding gene	gene with protein product			"""phosphatidylinositol glycan, class G"""			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.2718G>A	4.37:g.527753G>A						PIGG_ENST00000383028.4_Silent_p.L773L|PIGG_ENST00000504346.1_Silent_p.L817L|PIGG_ENST00000310340.5_Silent_p.L898L|PIGG_ENST00000296306.7_3'UTR	p.L906L	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN			12	2824	+			906					B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Silent	SNP	ENST00000453061.2	37	c.2718G>A	CCDS46992.1																																																																																				0.597	PIGG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357494.1	NM_017733		4	47	0	0	0	1	0	4	47				
KPRP	448834	broad.mit.edu	37	1	152732631	152732631	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr1:152732631C>A	ENST00000606109.1	+	1	595	c.567C>A	c.(565-567)agC>agA	p.S189R	KPRP_ENST00000368773.1_Missense_Mutation_p.S189R			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	189	Gln-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTCCTATAGCAGTTGTGGCC	0.562																																						ENST00000368773.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(565-567)agC>agA		keratinocyte proline-rich protein							145.0	142.0	143.0					1																	152732631		2203	4300	6503	SO:0001583	missense	448834					cytoplasm		g.chr1:152732631C>A	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.567C>A	1.37:g.152732631C>A	ENSP00000475216:p.Ser189Arg					KPRP_ENST00000606109.1_Missense_Mutation_p.S189R	p.S189R	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	625	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		189			Gln-rich.			Missense_Mutation	SNP	ENST00000606109.1	37	c.567C>A	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	C	5.452	0.268427	0.10349	.	.	ENSG00000203786	ENST00000368773	T	0.12774	2.65	5.26	-3.21	0.05140	.	0.754623	0.11855	N	0.522905	T	0.03434	0.0099	L	0.56769	1.78	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.42224	-0.9464	10	0.87932	D	0	-1.9995	0.4306	0.00471	0.2755:0.2378:0.2715:0.2152	.	189	Q5T749	KPRP_HUMAN	R	189	ENSP00000357762:S189R	ENSP00000357762:S189R	S	+	3	2	KPRP	150999255	0.003000	0.15002	0.000000	0.03702	0.014000	0.08584	-0.132000	0.10467	-0.374000	0.07967	0.655000	0.94253	AGC		0.562	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		5	122	1	0	0.00116845	1	0.00126789	5	122				
PYCARD	29108	broad.mit.edu	37	16	31213046	31213046	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr16:31213046G>A	ENST00000247470.9	-	3	749	c.448C>T	c.(448-450)Cgg>Tgg	p.R150W	PYCARD_ENST00000350605.4_Missense_Mutation_p.R131W|C16orf98_ENST00000561916.2_5'Flank	NM_013258.4	NP_037390.2	Q9ULZ3	ASC_HUMAN	PYD and CARD domain containing	150	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|defense response to Gram-negative bacterium (GO:0050829)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|macropinocytosis (GO:0044351)|myeloid dendritic cell activation (GO:0001773)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002588)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phagocytosis (GO:0050766)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell migration (GO:2000406)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of protein stability (GO:0031647)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|IkappaB kinase complex (GO:0008385)|mitochondrion (GO:0005739)|NLRP1 inflammasome complex (GO:0072558)|NLRP3 inflammasome complex (GO:0072559)|nucleolus (GO:0005730)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|protein homodimerization activity (GO:0042803)|Pyrin domain binding (GO:0032090)			NS(1)|kidney(1)	2						GGCTCGGCCCGCACTGCCTGG	0.607																																						ENST00000247470.9																			0				NS(1)|kidney(1)	2						c.(448-450)Cgg>Tgg		PYD and CARD domain containing							121.0	100.0	107.0					16																	31213046		2197	4300	6497	SO:0001583	missense	29108				induction of apoptosis|positive regulation of interleukin-1 beta secretion|positive regulation of NF-kappaB transcription factor activity|proteolysis|tumor necrosis factor-mediated signaling pathway	IkappaB kinase complex	caspase activator activity|cysteine-type endopeptidase activity|protein homodimerization activity|Pyrin domain binding	g.chr16:31213046G>A	AB023416	CCDS10708.1, CCDS10709.1	16p11.2	2013-01-22			ENSG00000103490	ENSG00000103490			16608	protein-coding gene	gene with protein product		606838					Standard	NM_013258		Approved	TMS-1, CARD5, ASC	uc010cak.3	Q9ULZ3	OTTHUMG00000176753	ENST00000247470.9:c.448C>T	16.37:g.31213046G>A	ENSP00000247470:p.Arg150Trp					PYCARD_ENST00000350605.4_Missense_Mutation_p.R131W	p.R150W	NM_013258.4	NP_037390.2	Q9ULZ3	ASC_HUMAN			3	749	-			150			CARD.		Q96D12|Q9BSZ5|Q9HBD0|Q9NXJ8	Missense_Mutation	SNP	ENST00000247470.9	37	c.448C>T	CCDS10708.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.789510	0.50102	.	.	ENSG00000103490	ENST00000350605;ENST00000247470;ENST00000355986	T;T	0.23754	1.89;1.89	5.31	1.95	0.26073	DEATH-like (2);Caspase Recruitment (2);	0.141093	0.32161	N	0.006498	T	0.51346	0.1669	M	0.87682	2.9	0.22240	N	0.999262	D;D	0.71674	0.998;0.997	D;D	0.66602	0.945;0.909	T	0.49588	-0.8924	10	0.87932	D	0	.	12.5598	0.56275	0.0:0.0:0.4746:0.5254	.	150;131	Q9ULZ3;Q9ULZ3-2	ASC_HUMAN;.	W	131;150;90	ENSP00000340441:R131W;ENSP00000247470:R150W	ENSP00000247470:R150W	R	-	1	2	PYCARD	31120547	0.450000	0.25697	0.721000	0.30653	0.150000	0.21749	1.221000	0.32503	0.669000	0.31146	0.655000	0.94253	CGG		0.607	PYCARD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255539.13	NM_013258		4	107	0	0	0	1	0	4	107				
GABRE	2564	broad.mit.edu	37	X	151123279	151123279	+	Missense_Mutation	SNP	C	C	T	rs80186670	byFrequency	TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chrX:151123279C>T	ENST00000370328.3	-	9	1468	c.1415G>A	c.(1414-1416)cGc>cAc	p.R472H	GABRE_ENST00000370325.1_3'UTR|AF274855.1_ENST00000582865.1_RNA|GABRE_ENST00000483564.1_5'UTR	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	472					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.R359H(1)|p.R472H(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GATGCAGAGGCGGCCCTGCTG	0.522													C|||	2	0.000529801	0.0	0.0014	3775	,	,		13567	0.0		0.0	False		,,,				2504	0.001					ENST00000370328.3																			2	Substitution - Missense(2)	p.R359H(1)|p.R472H(1)	kidney(2)	breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27						c.(1414-1416)cGc>cAc		gamma-aminobutyric acid (GABA) A receptor, epsilon		C	HIS/ARG	2,3833		0,2,0,1630,571	43.0	43.0	43.0		1415	2.8	1.0	X	dbSNP_131	43	15,6713		0,10,5,2418,1867	yes	missense	GABRE	NM_004961.3	29	0,12,5,4048,2438	TT,TC,T,CC,C		0.2229,0.0522,0.1609	probably-damaging	472/507	151123279	17,10546	2203	4300	6503	SO:0001583	missense	2564				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chrX:151123279C>T	Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4085	protein-coding gene	gene with protein product	"""GABA(A) receptor, epsilon"""	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.1415G>A	X.37:g.151123279C>T	ENSP00000359353:p.Arg472His					GABRE_ENST00000370325.1_3'UTR|GABRE_ENST00000483564.1_5'UTR	p.R472H	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN			9	1468	-	Acute lymphoblastic leukemia(192;6.56e-05)		472					E7ET93|O15345|O15346|Q6PCD2|Q99520	Missense_Mutation	SNP	ENST00000370328.3	37	c.1415G>A	CCDS14703.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	13.75	2.331461	0.41297	5.22E-4	0.002229	ENSG00000102287	ENST00000370328	D	0.85629	-2.01	5.68	2.79	0.32731	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.918420	0.09130	N	0.844470	T	0.81009	0.4734	L	0.60904	1.88	0.58432	D	0.999999	B	0.32800	0.385	B	0.29353	0.101	T	0.71576	-0.4551	10	0.66056	D	0.02	.	6.8835	0.24187	0.0:0.6742:0.0:0.3258	.	472	P78334	GBRE_HUMAN	H	472	ENSP00000359353:R472H	ENSP00000359353:R472H	R	-	2	0	GABRE	150873935	1.000000	0.71417	0.967000	0.41034	0.720000	0.41350	3.321000	0.51999	0.130000	0.18549	-0.191000	0.12829	CGC		0.522	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984		6	74	0	0	0	1	0	6	74				
C4BPA	722	broad.mit.edu	37	1	207297690	207297690	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr1:207297690C>A	ENST00000367070.3	+	6	879	c.685C>A	c.(685-687)Cca>Aca	p.P229T		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	229	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						TGTTTGGAGACCAAGCCCTCC	0.428																																						ENST00000367070.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						c.(685-687)Cca>Aca		complement component 4 binding protein, alpha							71.0	74.0	73.0					1																	207297690		2203	4300	6503	SO:0001583	missense	722				complement activation, classical pathway|innate immune response	extracellular region	protein binding	g.chr1:207297690C>A	M31452	CCDS1477.1	1q32	2010-09-24	2001-11-28		ENSG00000123838	ENSG00000123838			1325	protein-coding gene	gene with protein product		120830	"""complement component 4-binding protein, alpha"""	C4BP			Standard	XM_005273251		Approved		uc001hfo.3	P04003	OTTHUMG00000036173	ENST00000367070.3:c.685C>A	1.37:g.207297690C>A	ENSP00000356037:p.Pro229Thr						p.P229T	NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN			6	879	+			229			Sushi 3.		Q5VVQ8	Missense_Mutation	SNP	ENST00000367070.3	37	c.685C>A	CCDS1477.1	.	.	.	.	.	.	.	.	.	.	C	10.66	1.412574	0.25465	.	.	ENSG00000123838	ENST00000367070	T	0.66460	-0.21	5.61	1.62	0.23740	Complement control module (2);Sushi/SCR/CCP (3);	0.453747	0.20838	N	0.084757	T	0.73845	0.3639	M	0.66560	2.04	0.19300	N	0.999977	D	0.89917	1.0	D	0.80764	0.994	T	0.62840	-0.6769	10	0.18276	T	0.48	.	8.1829	0.31322	0.0:0.6739:0.0:0.3261	.	229	P04003	C4BPA_HUMAN	T	229	ENSP00000356037:P229T	ENSP00000356037:P229T	P	+	1	0	C4BPA	205364313	0.000000	0.05858	0.368000	0.25939	0.052000	0.14988	-0.051000	0.11885	0.115000	0.18071	-0.781000	0.03364	CCA		0.428	C4BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088089.3			10	43	1	0	1.5842e-08	1	1.79543e-08	10	43				
MT-ND5	4540	broad.mit.edu	37	M	14000	14000	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chrM:14000T>C	ENST00000361567.2	+	1	1664	c.1664T>C	c.(1663-1665)cTa>cCa	p.L555P	MT-TP_ENST00000387461.2_RNA|MT-TH_ENST00000387441.1_RNA|MT-TE_ENST00000387459.1_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TT_ENST00000387460.2_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	555					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						CCTCCTAGACCTAACCTGACT	0.438																																						ENST00000361567.2																			0				breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						c.(1663-1665)cTa>cCa		mitochondrially encoded NADH dehydrogenase 5	NADH(DB00157)																																			SO:0001583	missense	4540				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chrM:14000T>C			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.1664T>C	M.37:g.14000T>C	ENSP00000354813:p.Leu555Pro						p.L555P			P03915	NU5M_HUMAN			1	1664	+			555					Q34773|Q8WCY3	Missense_Mutation	SNP	ENST00000361567.2	37	c.1664T>C																																																																																					0.438	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024036		21	248	0	0	0	1	0	21	248				
ZNF681	148213	broad.mit.edu	37	19	23926839	23926839	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr19:23926839A>G	ENST00000402377.3	-	4	1654	c.1513T>C	c.(1513-1515)Tcc>Ccc	p.S505P	ZNF681_ENST00000395385.3_Missense_Mutation_p.S436P	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	505					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)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CATTTGTAGGATTTCTCTCCA	0.373																																						ENST00000402377.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21						c.(1513-1515)Tcc>Ccc		zinc finger protein 681							47.0	52.0	51.0					19																	23926839		2196	4290	6486	SO:0001583	missense	148213				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:23926839A>G	AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"""Zinc fingers, C2H2-type"", ""-"""	26457	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31526"""						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.1513T>C	19.37:g.23926839A>G	ENSP00000384000:p.Ser505Pro					ZNF681_ENST00000395385.3_Missense_Mutation_p.S436P	p.S505P	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN			4	1654	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	505					B3KVF7	Missense_Mutation	SNP	ENST00000402377.3	37	c.1513T>C	CCDS12414.2	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.563195	0.00134	.	.	ENSG00000196172	ENST00000402377;ENST00000395385	T;T	0.10192	2.9;2.9	1.51	-1.74	0.08056	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01454	0.0047	N	0.00080	-2.225	0.22666	N	0.99888	B	0.12013	0.005	B	0.04013	0.001	T	0.45629	-0.9248	9	0.02654	T	1	.	5.9174	0.19063	0.2097:0.0:0.7903:0.0	.	505	Q96N22	ZN681_HUMAN	P	505;436	ENSP00000384000:S505P;ENSP00000378783:S436P	ENSP00000378783:S436P	S	-	1	0	ZNF681	23718679	0.738000	0.28186	0.322000	0.25334	0.186000	0.23388	1.216000	0.32443	-0.127000	0.11661	-0.736000	0.03550	TCC		0.373	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320248.2	NM_138286		3	30	0	0	0	1	0	3	30				
RRAS	6237	broad.mit.edu	37	19	50140129	50140129	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr19:50140129C>T	ENST00000246792.3	-	3	398	c.296G>A	c.(295-297)cGt>cAt	p.R99H		NM_006270.3	NP_006261.1	P10301	RRAS_HUMAN	related RAS viral (r-ras) oncogene homolog	99					axon guidance (GO:0007411)|negative regulation of cell migration (GO:0030336)|positive regulation of angiogenesis (GO:0045766)|Ras protein signal transduction (GO:0007265)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			endometrium(1)|kidney(1)|lung(2)|ovary(2)	6				OV - Ovarian serous cystadenocarcinoma(262;0.00114)|GBM - Glioblastoma multiforme(134;0.0206)		GTGGCCAGCACGCATGTACTG	0.667																																						ENST00000246792.3																			0				endometrium(1)|kidney(1)|lung(2)|ovary(2)	6						c.(295-297)cGt>cAt		related RAS viral (r-ras) oncogene homolog							90.0	84.0	86.0					19																	50140129		2203	4300	6503	SO:0001583	missense	6237				axon guidance|Ras protein signal transduction|synaptic transmission	intracellular|plasma membrane	GDP binding|GTP binding|GTPase activity|protein binding	g.chr19:50140129C>T		CCDS12774.1	19q13.33	2014-05-09				ENSG00000126458			10447	protein-coding gene	gene with protein product	"""Oncogene RRAS"""	165090				3098437	Standard	NM_006270		Approved		uc002pop.1	P10301		ENST00000246792.3:c.296G>A	19.37:g.50140129C>T	ENSP00000246792:p.Arg99His						p.R99H	NM_006270.3	NP_006261.1	P10301	RRAS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00114)|GBM - Glioblastoma multiforme(134;0.0206)	3	398	-			99					Q6FH12	Missense_Mutation	SNP	ENST00000246792.3	37	c.296G>A	CCDS12774.1	.	.	.	.	.	.	.	.	.	.	C	34	5.394105	0.96009	.	.	ENSG00000126458	ENST00000246792	D	0.82255	-1.59	4.82	4.82	0.62117	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000001	D	0.90889	0.7137	M	0.78637	2.42	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.92068	0.5662	10	0.87932	D	0	.	16.8035	0.85620	0.0:1.0:0.0:0.0	.	99	P10301	RRAS_HUMAN	H	99	ENSP00000246792:R99H	ENSP00000246792:R99H	R	-	2	0	RRAS	54831941	1.000000	0.71417	0.919000	0.36401	0.953000	0.61014	7.241000	0.78201	2.496000	0.84212	0.557000	0.71058	CGT		0.667	RRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465791.1	NM_006270		15	131	0	0	0	1	0	15	131				
MRS2	57380	broad.mit.edu	37	6	24412567	24412567	+	Missense_Mutation	SNP	G	G	A	rs200245617	byFrequency	TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr6:24412567G>A	ENST00000378386.3	+	5	625	c.532G>A	c.(532-534)Gtt>Att	p.V178I	MRS2_ENST00000543597.1_5'UTR|MRS2_ENST00000483634.1_3'UTR|MRS2_ENST00000535061.1_Missense_Mutation_p.V128I|MRS2_ENST00000378353.1_Missense_Mutation_p.V178I|MRS2_ENST00000443868.2_Missense_Mutation_p.V181I|MRS2_ENST00000274747.7_3'UTR	NM_020662.2	NP_065713.1	Q9HD23	MRS2_HUMAN	MRS2 magnesium transporter	178						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	magnesium ion transmembrane transporter activity (GO:0015095)	p.V178I(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						GGGTCAACTCGTTACATACCC	0.388													G|||	10	0.00199681	0.0	0.0	5008	,	,		16090	0.0		0.0	False		,,,				2504	0.0102					ENST00000378386.3																			1	Substitution - Missense(1)	p.V178I(1)	endometrium(1)	breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						c.(532-534)Gtt>Att		MRS2 magnesium transporter		G	ILE/VAL	0,4406		0,0,2203	147.0	140.0	142.0		532	5.5	1.0	6		142	7,8593	5.7+/-21.5	0,7,4293	yes	missense	MRS2	NM_020662.2	29	0,7,6496	AA,AG,GG		0.0814,0.0,0.0538	probably-damaging	178/444	24412567	7,12999	2203	4300	6503	SO:0001583	missense	57380				ion transport	integral to membrane|mitochondrial inner membrane		g.chr6:24412567G>A	AF288288	CCDS4552.1, CCDS69055.1, CCDS69056.1, CCDS75408.1	6p22.3-p22.1	2013-05-03	2013-05-03	2008-01-18	ENSG00000124532	ENSG00000124532			13785	protein-coding gene	gene with protein product			"""MRS2-like, magnesium homeostasis factor (S. cerevisiae)"", ""MRS2 magnesium homeostasis factor homolog (S. cerevisiae)"""	MRS2L			Standard	XM_005249242		Approved		uc003neb.3	Q9HD23	OTTHUMG00000014355	ENST00000378386.3:c.532G>A	6.37:g.24412567G>A	ENSP00000367637:p.Val178Ile					MRS2_ENST00000274747.7_3'UTR|MRS2_ENST00000543597.1_5'UTR|MRS2_ENST00000443868.2_Missense_Mutation_p.V181I|MRS2_ENST00000535061.1_Missense_Mutation_p.V128I|MRS2_ENST00000483634.1_3'UTR|MRS2_ENST00000378353.1_Missense_Mutation_p.V178I	p.V178I	NM_020662.2	NP_065713.1	Q9HD23	MRS2_HUMAN			5	625	+			178					A8K4U3|B3KNN2|B4DQL2|Q5T3Y1|Q6NTG4|Q96KF8|Q9BVP1	Missense_Mutation	SNP	ENST00000378386.3	37	c.532G>A	CCDS4552.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.809605	0.70797	0.0	8.14E-4	ENSG00000124532	ENST00000535061;ENST00000378386;ENST00000378353;ENST00000443868	T;T;T;T	0.44083	1.48;1.5;0.93;1.46	5.48	5.48	0.80851	.	0.073046	0.53938	D	0.000042	T	0.47229	0.1434	L	0.53249	1.67	0.80722	D	1	D;D;D;D	0.76494	0.998;0.999;0.998;0.997	P;P;P;P	0.60789	0.772;0.879;0.808;0.619	T	0.16748	-1.0392	10	0.21014	T	0.42	-19.8841	19.3383	0.94329	0.0:0.0:1.0:0.0	.	128;181;178;178	F5GWH3;B4DQL2;Q9HD23;Q9HD23-2	.;.;MRS2_HUMAN;.	I	128;178;178;181	ENSP00000441839:V128I;ENSP00000367637:V178I;ENSP00000367604:V178I;ENSP00000399585:V181I	ENSP00000367604:V178I	V	+	1	0	MRS2	24520546	1.000000	0.71417	0.996000	0.52242	0.909000	0.53808	7.295000	0.78780	2.579000	0.87056	0.462000	0.41574	GTT		0.388	MRS2-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040002.1			7	83	0	0	0	1	0	7	83				
RTN4R	65078	broad.mit.edu	37	22	20229976	20229976	+	Missense_Mutation	SNP	C	C	T	rs576939822	byFrequency	TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr22:20229976C>T	ENST00000043402.7	-	2	1118	c.680G>A	c.(679-681)cGc>cAc	p.R227H	RTN4R_ENST00000469601.1_5'Flank	NM_023004.5	NP_075380.1	Q9BZR6	RTN4R_HUMAN	reticulon 4 receptor	227					axonogenesis (GO:0007409)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			lung(1)|ovary(1)|prostate(1)	3	Colorectal(54;0.0993)					TGTCATGAGGCGGCCAAGGTC	0.642													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19975	0.0		0.0	False		,,,				2504	0.0					ENST00000043402.7																			0				lung(1)|ovary(1)|prostate(1)	3						c.(679-681)cGc>cAc		reticulon 4 receptor							61.0	63.0	63.0					22																	20229976		2203	4300	6503	SO:0001583	missense	65078				axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane	protein binding|receptor activity	g.chr22:20229976C>T	AF283463	CCDS13777.1	22q11	2008-05-02			ENSG00000040608	ENSG00000040608			18601	protein-coding gene	gene with protein product		605566				11201742	Standard	NM_023004		Approved	NOGOR	uc002zrv.3	Q9BZR6	OTTHUMG00000150572	ENST00000043402.7:c.680G>A	22.37:g.20229976C>T	ENSP00000043402:p.Arg227His						p.R227H	NM_023004.5	NP_075380.1	Q9BZR6	RTN4R_HUMAN			2	1118	-	Colorectal(54;0.0993)		227					D3DX28	Missense_Mutation	SNP	ENST00000043402.7	37	c.680G>A	CCDS13777.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.15|10.15	1.270231|1.270231	0.23221|0.23221	.|.	.|.	ENSG00000040608|ENSG00000040608	ENST00000416372;ENST00000425986|ENST00000043402	.|T	.|0.02446	.|4.29	4.36|4.36	1.17|1.17	0.20885|0.20885	.|.	.|0.222876	.|0.23222	.|N	.|0.050541	T|T	0.02047|0.02047	0.0064|0.0064	L|L	0.31207|0.31207	0.915|0.915	0.23293|0.23293	N|N	0.997968|0.997968	.|P	.|0.48089	.|0.905	.|B	.|0.36608	.|0.229	T|T	0.50841|0.50841	-0.8780|-0.8780	5|10	.|0.51188	.|T	.|0.08	.|.	7.6726|7.6726	0.28468|0.28468	0.0:0.7021:0.0:0.2979|0.0:0.7021:0.0:0.2979	.|.	.|227	.|Q9BZR6	.|RTN4R_HUMAN	T|H	247;313|227	.|ENSP00000043402:R227H	.|ENSP00000043402:R227H	A|R	-|-	1|2	0|0	RTN4R|RTN4R	18609976|18609976	0.000000|0.000000	0.05858|0.05858	1.000000|1.000000	0.80357|0.80357	0.152000|0.152000	0.21847|0.21847	0.576000|0.576000	0.23744|0.23744	0.600000|0.600000	0.29862|0.29862	0.561000|0.561000	0.74099|0.74099	GCC|CGC		0.642	RTN4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318950.2			6	69	0	0	0	1	0	6	69				
MYOM2	9172	broad.mit.edu	37	8	2027640	2027640	+	Splice_Site	SNP	G	G	A			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr8:2027640G>A	ENST00000262113.4	+	13	1603		c.e13-1		MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2						muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TCTCTCCGCAGCCGTTCATTT	0.512																																						ENST00000262113.4																			0				autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104						c.e13-1		myomesin 2							306.0	299.0	301.0					8																	2027640		2203	4300	6503	SO:0001630	splice_region_variant	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2027640G>A		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.1463-1G>A	8.37:g.2027640G>A						MYOM2_ENST00000523438.1_Intron		NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	13	1603	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)						Q7Z3Y2	Splice_Site	SNP	ENST00000262113.4	37		CCDS5957.1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.837462	0.32513	.	.	ENSG00000036448	ENST00000262113	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8744	0.92328	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYOM2	2015047	1.000000	0.71417	0.849000	0.33467	0.010000	0.07245	7.783000	0.85696	2.449000	0.82847	0.655000	0.94253	.		0.512	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970	Intron	43	293	0	0	0	1	0	43	293				
GIPC3	126326	broad.mit.edu	37	19	3589459	3589459	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr19:3589459G>T	ENST00000322315.5	+	4	656	c.611G>T	c.(610-612)aGt>aTt	p.S204I		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	204										breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCAGAGAAGTCGGTCCAGC	0.597																																						ENST00000322315.5																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10						c.(610-612)aGt>aTt		GIPC PDZ domain containing family, member 3							64.0	64.0	64.0					19																	3589459		2203	4300	6503	SO:0001583	missense	126326							g.chr19:3589459G>T	AB073738	CCDS32871.1	19p13.3	2011-11-29				ENSG00000179855			18183	protein-coding gene	gene with protein product		608792	"""chromosome 19 open reading frame 64"", ""deafness, autosomal recessive 72"", ""deafness, autosomal recessive 15"""	C19orf64, DFNB72, DFNB15		11836571, 21326233	Standard	NM_133261		Approved	DFNB95	uc002lyd.4	Q8TF64		ENST00000322315.5:c.611G>T	19.37:g.3589459G>T	ENSP00000319254:p.Ser204Ile						p.S204I	NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)	4	656	+			204					O75227	Missense_Mutation	SNP	ENST00000322315.5	37	c.611G>T	CCDS32871.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.999588	0.35320	.	.	ENSG00000179855	ENST00000322315	D	0.82711	-1.64	4.58	3.5	0.40072	PDZ/DHR/GLGF (1);	0.233510	0.43416	D	0.000580	T	0.76183	0.3952	L	0.59436	1.845	0.39677	D	0.970842	P	0.37015	0.578	B	0.28305	0.088	T	0.80315	-0.1434	10	0.54805	T	0.06	-21.8112	11.863	0.52478	0.0:0.2259:0.7741:0.0	.	204	Q8TF64	GIPC3_HUMAN	I	204	ENSP00000319254:S204I	ENSP00000319254:S204I	S	+	2	0	GIPC3	3540459	0.290000	0.24343	0.981000	0.43875	0.762000	0.43233	0.733000	0.26087	2.095000	0.63458	0.484000	0.47621	AGT		0.597	GIPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394577.1	NM_133261		4	72	1	0	0.0215528	1	0.0228998	4	72				
SNRNP200	23020	broad.mit.edu	37	2	96970469	96970469	+	Silent	SNP	C	C	T			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr2:96970469C>T	ENST00000323853.5	-	2	260	c.183G>A	c.(181-183)ccG>ccA	p.P61P	AC021188.4_ENST00000421534.1_RNA|SNRNP200_ENST00000349783.5_Silent_p.P61P	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	61					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CCTGCATCTGCGGTTTGGTCC	0.527																																						ENST00000323853.5																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						c.(181-183)ccG>ccA		small nuclear ribonucleoprotein 200kDa (U5)							130.0	115.0	121.0					2																	96970469		2203	4300	6503	SO:0001819	synonymous_variant	23020					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr2:96970469C>T	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.183G>A	2.37:g.96970469C>T						SNRNP200_ENST00000349783.5_Silent_p.P61P	p.P61P	NM_014014.4	NP_054733.2	O75643	U520_HUMAN			2	260	-			61					O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Silent	SNP	ENST00000323853.5	37	c.183G>A	CCDS2020.1																																																																																				0.527	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		5	96	0	0	0	1	0	5	96				
ASXL1	171023	broad.mit.edu	37	20	31023107	31023107	+	Silent	SNP	C	C	T	rs147278940	byFrequency	TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr20:31023107C>T	ENST00000375687.4	+	13	3016	c.2592C>T	c.(2590-2592)gaC>gaT	p.D864D	ASXL1_ENST00000306058.5_Silent_p.D859D	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	864					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CATTTGATGACGAATTAGGGC	0.458			"""F, N, Mis"""		"""MDS, CMML"""								C|||	6	0.00119808	0.0045	0.0	5008	,	,		24352	0.0		0.0	False		,,,				2504	0.0					ENST00000375687.4				Rec	yes		20	20q11.1	171023	"""F, N, Mis"""	additional sex combs like 1			L			"""MDS, CMML"""		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						c.(2590-2592)gaC>gaT		additional sex combs like 1 (Drosophila)		C		3,4403	6.2+/-15.9	0,3,2200	199.0	200.0	199.0		2592	-8.4	0.0	20	dbSNP_134	199	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ASXL1	NM_015338.5		0,4,6499	TT,TC,CC		0.0116,0.0681,0.0308		864/1542	31023107	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31023107C>T	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.2592C>T	20.37:g.31023107C>T						ASXL1_ENST00000306058.5_Silent_p.D859D	p.D864D	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN			13	3016	+			864					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Silent	SNP	ENST00000375687.4	37	c.2592C>T	CCDS13201.1																																																																																				0.458	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		5	229	0	0	0	1	0	5	229				
OPN4	94233	broad.mit.edu	37	10	88418311	88418311	+	Silent	SNP	C	C	T			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr10:88418311C>T	ENST00000241891.5	+	4	662	c.495C>T	c.(493-495)gcC>gcT	p.A165A	OPN4_ENST00000372071.2_Silent_p.A176A	NM_033282.3	NP_150598.1	Q9UHM6	OPN4_HUMAN	opsin 4	165					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|rhodopsin mediated signaling pathway (GO:0016056)|rhythmic process (GO:0048511)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	11-cis retinal binding (GO:0005502)|G-protein coupled photoreceptor activity (GO:0008020)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						CGGCCATCGCCCTGGACCGCT	0.612																																						ENST00000372071.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						c.(526-528)gcC>gcT		opsin 4							96.0	84.0	88.0					10																	88418311		2203	4300	6503	SO:0001819	synonymous_variant	94233				phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity	g.chr10:88418311C>T	AF147788	CCDS7376.1, CCDS31237.1	10q22	2012-08-08	2008-04-16		ENSG00000122375	ENSG00000122375		"""GPCR / Class A : Opsin receptors"""	14449	protein-coding gene	gene with protein product	"""melanopsin"""	606665	"""opsin 4 (melanopsin)"""			10632589	Standard	NM_001030015		Approved	MOP, melanopsin	uc001kdp.3	Q9UHM6	OTTHUMG00000018654	ENST00000241891.5:c.495C>T	10.37:g.88418311C>T						OPN4_ENST00000241891.5_Silent_p.A165A	p.A176A	NM_001030015.2	NP_001025186.1	Q9UHM6	OPN4_HUMAN			5	755	+			165					B7ZLB3|Q14D01|Q2PP22|Q8NGQ9	Silent	SNP	ENST00000241891.5	37	c.528C>T	CCDS7376.1																																																																																				0.612	OPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049158.2	NM_033282		8	62	0	0	0	1	0	8	62				
HMCN1	83872	broad.mit.edu	37	1	186055385	186055385	+	Silent	SNP	A	A	T			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr1:186055385A>T	ENST00000271588.4	+	58	9121	c.8892A>T	c.(8890-8892)ccA>ccT	p.P2964P	HMCN1_ENST00000367492.2_Silent_p.P2964P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2964	Ig-like C2-type 28.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TAGTTCCTCCAAGTGTCATTG	0.368																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(8890-8892)ccA>ccT		hemicentin 1							115.0	111.0	113.0					1																	186055385		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186055385A>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.8892A>T	1.37:g.186055385A>T						HMCN1_ENST00000367492.2_Silent_p.P2964P	p.P2964P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			58	9121	+			2964			Ig-like C2-type 28.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.8892A>T	CCDS30956.1																																																																																				0.368	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		8	47	0	0	0	1	0	8	47				
BMS1P20	96610	broad.mit.edu	37	22	22663087	22663087	+	RNA	SNP	A	A	G	rs1054158|rs71318762	byFrequency	TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr22:22663087A>G	ENST00000426066.1	+	0	526					NR_027293.1				BMS1 pseudogene 20																		GCTGCCACATAAGTTGTCCTT	0.303													.|||	3161	0.63119	0.9652	0.4726	5008	,	,		8984	0.4077		0.5219	False		,,,				2504	0.635					ENST00000426066.1																			0																																																			0							g.chr22:22663087A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22663087A>G								NR_027293.1						0	526	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.303	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	17	0	0	0	1	0	3	17				
ATP4A	495	broad.mit.edu	37	19	36046172	36046172	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr19:36046172A>T	ENST00000262623.3	-	15	2250	c.2222T>A	c.(2221-2223)aTc>aAc	p.I741N		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	741					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	GGCTACTCCGATGTCTGCCTT	0.587																																						ENST00000262623.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(2221-2223)aTc>aAc		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						84.0	71.0	76.0					19																	36046172		2203	4300	6503	SO:0001583	missense	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36046172A>T		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.2222T>A	19.37:g.36046172A>T	ENSP00000262623:p.Ile741Asn						p.I741N	NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		15	2250	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		741					O00738	Missense_Mutation	SNP	ENST00000262623.3	37	c.2222T>A	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.077531	0.76528	.	.	ENSG00000105675	ENST00000262623	D	0.98512	-4.97	4.88	4.88	0.63580	HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.64402	D	0.000001	D	0.99402	0.9789	H	0.99197	4.465	0.80722	D	1	D	0.71674	0.998	D	0.91635	0.999	D	0.98168	1.0450	10	0.87932	D	0	.	12.4806	0.55839	1.0:0.0:0.0:0.0	.	741	P20648	ATP4A_HUMAN	N	741	ENSP00000262623:I741N	ENSP00000262623:I741N	I	-	2	0	ATP4A	40738012	1.000000	0.71417	0.997000	0.53966	0.970000	0.65996	9.139000	0.94554	2.056000	0.61249	0.379000	0.24179	ATC		0.587	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		11	61	0	0	0	1	0	11	61				
SEPT6	23157	broad.mit.edu	37	X	118774683	118774683	+	Silent	SNP	C	C	T	rs143382025		TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chrX:118774683C>T	ENST00000343984.5	-	6	1023	c.759G>A	c.(757-759)gcG>gcA	p.A253A	SEPT6_ENST00000360156.7_Silent_p.A253A|SEPT6_ENST00000354416.3_Silent_p.A253A|SEPT6_ENST00000394616.4_Silent_p.A195A|SEPT6_ENST00000394610.1_Silent_p.A253A|SEPT6_ENST00000354228.4_Silent_p.A253A|SEPT6_ENST00000394617.2_Silent_p.A283A|SEPT6_ENST00000489216.1_Silent_p.A253A	NM_015129.5	NP_055944.2	Q14141	SEPT6_HUMAN	septin 6	253	Septin-type G.				cytokinesis (GO:0000910)|viral process (GO:0016032)	axon terminus (GO:0043679)|kinetochore (GO:0000776)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)	GTP binding (GO:0005525)	p.A253A(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						GATACTGCCGCGCCCTCATCA	0.547			T	MLL	AML																																	ENST00000394610.1				Dom	yes		X	Xq24	23157	T	septin 6			L	MLL		AML		1	Substitution - coding silent(1)	p.A253A(1)	central_nervous_system(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						c.(757-759)gcG>gcA		septin 6		C	,,,	1,3834		0,1,1631,571	192.0	135.0	154.0		759,759,759,759	-11.2	0.0	X	dbSNP_134	154	0,6728		0,0,2428,1872	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SEPT6	NM_015129.5,NM_145799.3,NM_145800.3,NM_145802.3	,,,	0,1,4059,2443	TT,TC,CC,C		0.0,0.0261,0.0095	,,,	253/435,253/428,253/428,253/430	118774683	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	23157				cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding	g.chrX:118774683C>T	D50918	CCDS14583.1, CCDS14584.1, CCDS14585.1	Xq24	2013-01-21			ENSG00000125354	ENSG00000125354		"""Septins"""	15848	protein-coding gene	gene with protein product		300683				8590280, 10744683	Standard	NM_015129		Approved	KIAA0128, SEP2, SEPT2, MGC16619, MGC20339	uc004erv.3	Q14141	OTTHUMG00000022280	ENST00000343984.5:c.759G>A	X.37:g.118774683C>T						SEPT6_ENST00000394616.4_Silent_p.A195A|SEPT6_ENST00000394617.2_Silent_p.A283A|SEPT6_ENST00000343984.5_Silent_p.A253A|SEPT6_ENST00000360156.7_Silent_p.A253A|SEPT6_ENST00000354416.3_Silent_p.A253A|SEPT6_ENST00000354228.4_Silent_p.A253A|SEPT6_ENST00000489216.1_Silent_p.A253A	p.A253A	NM_145799.3	NP_665798.1	Q14141	SEPT6_HUMAN			6	1023	-			253					Q5JTK0|Q969W5|Q96A13|Q96GR1|Q96P86|Q96P87	Silent	SNP	ENST00000343984.5	37	c.759G>A	CCDS14584.1																																																																																				0.547	SEPT6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058059.1	NM_145802		17	128	0	0	0	1	0	17	128				
FBXO24	26261	broad.mit.edu	37	7	100187922	100187922	+	Silent	SNP	G	G	A			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr7:100187922G>A	ENST00000241071.6	+	3	586	c.264G>A	c.(262-264)ccG>ccA	p.P88P	PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000498195.1_3'UTR|FBXO24_ENST00000427939.2_Silent_p.P126P|FBXO24_ENST00000465843.1_Silent_p.P88P|FBXO24_ENST00000360609.2_Silent_p.P88P|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000468962.1_Silent_p.P76P	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	88					protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GACTCAGTCCGCGCCTCCAAG	0.602																																						ENST00000241071.6																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28						c.(262-264)ccG>ccA		F-box protein 24							68.0	57.0	61.0					7																	100187922		2203	4300	6503	SO:0001819	synonymous_variant	26261					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr7:100187922G>A	AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"""F-boxes /  ""other"""""	13595	protein-coding gene	gene with protein product		609097	"""F-box only protein 24"""			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.264G>A	7.37:g.100187922G>A						FBXO24_ENST00000465843.1_Silent_p.P88P|FBXO24_ENST00000468962.1_Silent_p.P76P|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000360609.2_Silent_p.P88P|FBXO24_ENST00000427939.2_Silent_p.P126P|FBXO24_ENST00000498195.1_3'UTR	p.P88P	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN			3	586	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		88					A4D2D4|B4DX91|B4DY42|Q9H0G1	Silent	SNP	ENST00000241071.6	37	c.264G>A	CCDS5698.1																																																																																				0.602	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356104.1			9	39	0	0	0	1	0	9	39				
ADH1A	124	broad.mit.edu	37	4	100208046	100208046	+	Missense_Mutation	SNP	C	C	T	rs141454408		TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr4:100208046C>T	ENST00000209668.2	-	3	333	c.220G>A	c.(220-222)Gtg>Atg	p.V74M	ADH1A_ENST00000511656.1_5'UTR|RP11-696N14.1_ENST00000500358.2_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	74					alcohol metabolic process (GO:0006066)|drug metabolic process (GO:0017144)|ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Ethanol(DB00898)|Fomepizole(DB01213)	ACACTCTCCACGATGCCGGCT	0.507																																						ENST00000209668.2																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25						c.(220-222)Gtg>Atg		alcohol dehydrogenase 1A (class I), alpha polypeptide	Fomepizole(DB01213)|NADH(DB00157)	C	MET/VAL	0,4406		0,0,2203	209.0	192.0	198.0		220	2.8	0.9	4	dbSNP_134	198	1,8599	1.2+/-3.3	0,1,4299	no	missense	ADH1A	NM_000667.3	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		74/376	100208046	1,13005	2203	4300	6503	SO:0001583	missense	124				ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding	g.chr4:100208046C>T	M12963	CCDS3648.1	4q23	2009-12-04			ENSG00000187758	ENSG00000187758	1.1.1.1	"""Alcohol dehydrogenases"""	249	protein-coding gene	gene with protein product		103700		ADH1		3006456	Standard	NM_000667		Approved		uc003hur.2	P07327	OTTHUMG00000131026	ENST00000209668.2:c.220G>A	4.37:g.100208046C>T	ENSP00000209668:p.Val74Met					RP11-696N14.1_ENST00000500358.2_RNA|ADH1A_ENST00000511656.1_5'UTR	p.V74M	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	3	333	-			74					A8K3E3|Q17R68	Missense_Mutation	SNP	ENST00000209668.2	37	c.220G>A	CCDS3648.1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.545762	0.65198	0.0	1.16E-4	ENSG00000187758	ENST00000209668	T	0.12774	2.65	2.79	2.79	0.32731	GroES-like (1);Alcohol dehydrogenase GroES-like (1);Alcohol dehydrogenase, zinc-type, conserved site (1);	0.204952	0.42053	D	0.000773	T	0.52821	0.1758	H	0.99668	4.69	0.54753	D	0.999982	D	0.89917	1.0	D	0.65684	0.937	T	0.70033	-0.4983	10	0.87932	D	0	-10.3417	10.1135	0.42576	0.0:0.8921:0.0:0.1079	.	74	P07327	ADH1A_HUMAN	M	74	ENSP00000209668:V74M	ENSP00000209668:V74M	V	-	1	0	ADH1A	100427069	1.000000	0.71417	0.858000	0.33744	0.989000	0.77384	5.179000	0.65043	1.544000	0.49359	0.460000	0.39030	GTG		0.507	ADH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253669.1	NM_000667		18	200	0	0	0	1	0	18	200				
C3orf30	152405	broad.mit.edu	37	3	118865808	118865808	+	Missense_Mutation	SNP	A	A	G	rs373733827		TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr3:118865808A>G	ENST00000295622.1	+	1	812	c.772A>G	c.(772-774)Att>Gtt	p.I258V	IGSF11_ENST00000425327.2_5'Flank|IGSF11_ENST00000354673.2_5'Flank|RP11-484M3.5_ENST00000490594.1_5'Flank|IGSF11_ENST00000441144.2_5'Flank	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	258										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		TTCCGTACAGATTGACCGCAG	0.502																																						ENST00000295622.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34						c.(772-774)Att>Gtt		chromosome 3 open reading frame 30							93.0	92.0	93.0					3																	118865808		2203	4300	6503	SO:0001583	missense	152405							g.chr3:118865808A>G	AK057421	CCDS2984.1	3q13.32	2011-08-09			ENSG00000163424	ENSG00000163424			26553	protein-coding gene	gene with protein product							Standard	NM_152539		Approved	FLJ32859	uc003ecb.1	Q96M34	OTTHUMG00000159349	ENST00000295622.1:c.772A>G	3.37:g.118865808A>G	ENSP00000295622:p.Ile258Val						p.I258V	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	1	812	+			258					A1L4B7	Missense_Mutation	SNP	ENST00000295622.1	37	c.772A>G	CCDS2984.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.089|0.089	-1.169556|-1.169556	0.01660|0.01660	.|.	.|.	ENSG00000163424|ENSG00000163424	ENST00000460150;ENST00000473121|ENST00000295622;ENST00000470341	.|T	.|0.34072	.|1.38	3.74|3.74	-3.08|-3.08	0.05347|0.05347	.|.	.|1.453590	.|0.04375	.|N	.|0.359780	T|T	0.15825|0.15825	0.0381|0.0381	N|N	0.04508|0.04508	-0.205|-0.205	0.09310|0.09310	N|N	1|1	.|B;B	.|0.10296	.|0.003;0.003	.|B;B	.|0.12156	.|0.007;0.007	T|T	0.15407|0.15407	-1.0438|-1.0438	5|10	.|0.28530	.|T	.|0.3	-0.381|-0.381	4.7989|4.7989	0.13287|0.13287	0.4875:0.0:0.3683:0.1442|0.4875:0.0:0.3683:0.1442	.|.	.|258;258	.|E9PFE5;Q96M34	.|.;CC030_HUMAN	G|V	221;50|258	.|ENSP00000295622:I258V	.|ENSP00000295622:I258V	D|I	+|+	2|1	0|0	C3orf30|C3orf30	120348498|120348498	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	0.359000|0.359000	0.20233|0.20233	-0.603000|-0.603000	0.05767|0.05767	-0.400000|-0.400000	0.06385|0.06385	GAT|ATT		0.502	C3orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354838.1	NM_152539		5	62	0	0	0	1	0	5	62				
FARP2	9855	broad.mit.edu	37	2	242432832	242432832	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr2:242432832G>A	ENST00000264042.3	+	26	3190	c.3020G>A	c.(3019-3021)cGg>cAg	p.R1007Q	STK25_ENST00000316586.4_3'UTR|STK25_ENST00000478403.1_5'Flank	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	1007	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R1007Q(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		TACTTCTTCCGGGCTGAGAGC	0.527																																						ENST00000264042.3																			1	Substitution - Missense(1)	p.R1007Q(1)	endometrium(1)	breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43						c.(3019-3021)cGg>cAg		FERM, RhoGEF and pleckstrin domain protein 2							81.0	80.0	80.0					2																	242432832		2203	4300	6503	SO:0001583	missense	9855				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr2:242432832G>A	AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.3020G>A	2.37:g.242432832G>A	ENSP00000264042:p.Arg1007Gln					STK25_ENST00000316586.4_3'UTR	p.R1007Q	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)	26	3190	+		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)	1007			PH 2.		B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Missense_Mutation	SNP	ENST00000264042.3	37	c.3020G>A	CCDS33424.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.566512|5.566512	0.96540|0.96540	.|.	.|.	ENSG00000006607|ENSG00000006607	ENST00000412332|ENST00000264042	.|T	.|0.11277	.|2.79	5.18|5.18	5.18|5.18	0.71444|0.71444	.|Pleckstrin homology-type (1);Pleckstrin homology domain (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.13243|0.13243	0.0321|0.0321	L|L	0.55481|0.55481	1.735|1.735	0.80722|0.80722	D|D	1|1	.|P	.|0.43094	.|0.799	.|B	.|0.34180	.|0.177	T|T	0.03148|0.03148	-1.1067|-1.1067	5|10	.|0.87932	.|D	.|0	.|.	19.0705|19.0705	0.93134|0.93134	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1007	.|O94887	.|FARP2_HUMAN	R|Q	9|1007	.|ENSP00000264042:R1007Q	.|ENSP00000264042:R1007Q	G|R	+|+	1|2	0|0	FARP2|FARP2	242081505|242081505	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.828000|7.828000	0.86729|0.86729	2.574000|2.574000	0.86865|0.86865	0.655000|0.655000	0.94253|0.94253	GGG|CGG		0.527	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1			5	49	0	0	0	1	0	5	49				
CYP4F12	66002	broad.mit.edu	37	19	15791263	15791263	+	Silent	SNP	C	C	T	rs199991130	byFrequency	TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr19:15791263C>T	ENST00000550308.1	+	5	839	c.459C>T	c.(457-459)ccC>ccT	p.P153P	CYP4F12_ENST00000324632.10_Silent_p.P153P	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	153					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	TGCTGACGCCCGCCTTCCATT	0.537																																						ENST00000550308.1																			0				NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						c.(457-459)ccC>ccT		cytochrome P450, family 4, subfamily F, polypeptide 12		C		0,4406		0,0,2203	41.0	43.0	42.0		459	-5.8	0.2	19		42	1,8599		0,1,4299	no	coding-synonymous	CYP4F12	NM_023944.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		153/525	15791263	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	66002							g.chr19:15791263C>T	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"""Cytochrome P450s"""	18857	protein-coding gene	gene with protein product		611485	"""cytochrome P450, subfamily IVF, polypeptide 12"""			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.459C>T	19.37:g.15791263C>T						CYP4F12_ENST00000324632.9_Silent_p.P153P	p.P153P	NM_023944.3	NP_076433.3					5	839	+	Acute lymphoblastic leukemia(2;0.0367)							E7ET51|O60389|Q5JPJ7|Q9HCS1	Silent	SNP	ENST00000550308.1	37	c.459C>T	CCDS42517.1																																																																																				0.537	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			5	33	0	0	0	1	0	5	33				
IQSEC3	440073	broad.mit.edu	37	12	274929	274929	+	Silent	SNP	C	C	T			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr12:274929C>T	ENST00000538872.1	+	11	2962	c.2844C>T	c.(2842-2844)ctC>ctT	p.L948L	RP11-598F7.6_ENST00000537295.1_lincRNA|IQSEC3_ENST00000382841.2_Silent_p.L645L|IQSEC3_ENST00000326261.4_Silent_p.L948L|RP11-598F7.5_ENST00000540136.1_RNA			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	948	PH.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		TGACCCCGCTCTCGGGCTCCG	0.612																																						ENST00000538872.1																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2842-2844)ctC>ctT		IQ motif and Sec7 domain 3							56.0	58.0	57.0					12																	274929		2203	4300	6503	SO:0001819	synonymous_variant	440073				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chr12:274929C>T	AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.2844C>T	12.37:g.274929C>T						RP11-598F7.5_ENST00000540136.1_RNA|IQSEC3_ENST00000382841.2_Silent_p.L645L|IQSEC3_ENST00000326261.4_Silent_p.L948L	p.L948L			Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	11	2962	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		948			PH.		A6NIF2|A6NKV9|Q8TB43	Silent	SNP	ENST00000538872.1	37	c.2844C>T	CCDS53728.1																																																																																				0.612	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	XM_495902		4	51	0	0	0	1	0	4	51				
KIAA0100	9703	broad.mit.edu	37	17	26939672	26939672	+	IGR	SNP	C	C	T			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr17:26939672C>T	ENST00000528896.2	-	0	7407				SPAG5-AS1_ENST00000414744.1_RNA|RP11-192H23.4_ENST00000534850.1_Intron|SPAG5-AS1_ENST00000554154.1_RNA|RP11-192H23.6_ENST00000579019.2_RNA|SPAG5-AS1_ENST00000424210.1_RNA|SGK494_ENST00000469832.3_5'UTR|SGK494_ENST00000301037.5_Missense_Mutation_p.G171R|RP11-192H23.4_ENST00000577790.1_Intron	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100							extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CAGCTGTCCCCCAAGCTGTGT	0.488																																						ENST00000301037.5																			0											c.(511-513)Ggg>Agg									128.0	102.0	111.0					17																	26939672		2203	4300	6503	SO:0001628	intergenic_variant	0							g.chr17:26939672C>T	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587		17.37:g.26939672C>T						SGK494_ENST00000469832.3_5'UTR|SPAG5-AS1_ENST00000424210.1_RNA|RP11-192H23.4_ENST00000534850.1_Intron|SPAG5-AS1_ENST00000554154.1_RNA|RP11-192H23.4_ENST00000577790.1_Intron	p.G171R	NM_001174103.1	NP_001167574.1					5	510	-								A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	c.511G>A	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.202893	0.38905	.	.	ENSG00000167524	ENST00000301037;ENST00000530121	T;T	0.07216	3.21;3.21	5.97	4.01	0.46588	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.196128	0.44902	D	0.000414	T	0.05273	0.0140	N	0.16233	0.39	0.37812	D	0.928099	B	0.02656	0.0	B	0.10450	0.005	T	0.38824	-0.9643	10	0.23302	T	0.38	-11.3741	9.0967	0.36642	0.1457:0.7802:0.0:0.0741	.	171	Q96LW2	SG494_HUMAN	R	171;167	ENSP00000301037:G171R;ENSP00000434603:G167R	ENSP00000301037:G171R	G	-	1	0	AC005726.6	23963799	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.632000	0.37102	0.887000	0.36136	-0.741000	0.03529	GGG		0.488	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		9	50	0	0	0	1	0	9	50				
FLG	2312	broad.mit.edu	37	1	152280001	152280001	+	Missense_Mutation	SNP	G	G	C	rs553191250		TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr1:152280001G>C	ENST00000368799.1	-	3	7396	c.7361C>G	c.(7360-7362)aCg>aGg	p.T2454R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2454	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTTGGGACGTTGAGTGCCT	0.582									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(7360-7362)aCg>aGg		filaggrin							342.0	313.0	323.0					1																	152280001		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152280001G>C	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.7361C>G	1.37:g.152280001G>C	ENSP00000357789:p.Thr2454Arg					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.T2454R	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	7396	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2454			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.7361C>G	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	g	0.004	-2.323384	0.00232	.	.	ENSG00000143631	ENST00000368799	T	0.01745	4.66	2.63	-5.27	0.02763	.	.	.	.	.	T	0.00271	0.0008	N	0.22421	0.69	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.43212	-0.9405	9	0.16420	T	0.52	.	1.5569	0.02586	0.1958:0.152:0.4016:0.2506	.	2454	P20930	FILA_HUMAN	R	2454	ENSP00000357789:T2454R	ENSP00000357789:T2454R	T	-	2	0	FLG	150546625	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.777000	0.00054	-5.537000	0.00013	-3.523000	0.00032	ACG		0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		15	472	0	0	0	1	0	15	472				
C10orf12	26148	broad.mit.edu	37	10	98742401	98742401	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr10:98742401C>A	ENST00000286067.2	+	1	1361	c.1254C>A	c.(1252-1254)agC>agA	p.S418R		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	418										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		ACAACCAAAGCATCAGTGCTG	0.498																																						ENST00000286067.2																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45						c.(1252-1254)agC>agA		chromosome 10 open reading frame 12							136.0	150.0	145.0					10																	98742401		2203	4300	6503	SO:0001583	missense	26148							g.chr10:98742401C>A	BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.1254C>A	10.37:g.98742401C>A	ENSP00000286067:p.Ser418Arg						p.S418R	NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)	1	1361	+		Colorectal(252;0.172)	418					Q9H945|Q9Y457	Missense_Mutation	SNP	ENST00000286067.2	37	c.1254C>A	CCDS7452.1	.	.	.	.	.	.	.	.	.	.	C	4.916	0.170189	0.09339	.	.	ENSG00000155640	ENST00000286067;ENST00000539886	T	0.10860	2.83	5.77	2.8	0.32819	.	0.576807	0.16718	N	0.202394	T	0.07999	0.0200	L	0.29908	0.895	0.27444	N	0.953637	B;B	0.27140	0.169;0.169	B;B	0.28553	0.091;0.064	T	0.29792	-1.0000	10	0.34782	T	0.22	-3.2271	7.1826	0.25780	0.0:0.7079:0.1377:0.1544	.	252;418	A0PJI9;Q8N655	.;CJ012_HUMAN	R	418;252	ENSP00000286067:S418R	ENSP00000286067:S418R	S	+	3	2	C10orf12	98732391	0.001000	0.12720	0.078000	0.20375	0.076000	0.17211	-0.415000	0.07106	0.311000	0.23014	0.561000	0.74099	AGC		0.498	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652		4	136	1	0	0.27861	1	0.27861	4	136				
IPO7	10527	broad.mit.edu	37	11	9459665	9459665	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr11:9459665C>G	ENST00000379719.3	+	22	2670	c.2528C>G	c.(2527-2529)gCt>gGt	p.A843G		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	843					innate immune response (GO:0045087)|protein import into nucleus (GO:0006606)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)|small GTPase regulator activity (GO:0005083)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		GGACTCTGTGCTCTTATTGAT	0.308																																						ENST00000379719.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2527-2529)gCt>gGt		importin 7							146.0	158.0	154.0					11																	9459665		2201	4294	6495	SO:0001583	missense	10527				interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity	g.chr11:9459665C>G	AF098799	CCDS31425.1	11p15.3	2010-12-02	2003-03-11	2003-03-14	ENSG00000205339	ENSG00000205339		"""Importins"""	9852	protein-coding gene	gene with protein product		605586	"""RAN binding protein 7"""	RANBP7		9214382	Standard	NM_006391		Approved	Imp7	uc001mho.3	O95373	OTTHUMG00000165753	ENST00000379719.3:c.2528C>G	11.37:g.9459665C>G	ENSP00000369042:p.Ala843Gly						p.A843G	NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN		all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)	22	2670	+			843					A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Missense_Mutation	SNP	ENST00000379719.3	37	c.2528C>G	CCDS31425.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.381521	0.61845	.	.	ENSG00000205339	ENST00000379719	T	0.67865	-0.29	5.36	5.36	0.76844	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72875	0.3515	M	0.79123	2.44	0.80722	D	1	P	0.37330	0.59	B	0.40602	0.334	T	0.75698	-0.3227	10	0.52906	T	0.07	.	19.0792	0.93175	0.0:1.0:0.0:0.0	.	843	O95373	IPO7_HUMAN	G	843	ENSP00000369042:A843G	ENSP00000369042:A843G	A	+	2	0	IPO7	9416241	1.000000	0.71417	1.000000	0.80357	0.600000	0.36913	7.495000	0.81514	2.507000	0.84556	0.585000	0.79938	GCT		0.308	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386022.1	NM_006391		5	89	0	0	0	1	0	5	89				
MAP7D3	79649	broad.mit.edu	37	X	135313712	135313712	+	Silent	SNP	G	G	A			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chrX:135313712G>A	ENST00000316077.9	-	8	1624	c.1404C>T	c.(1402-1404)gaC>gaT	p.D468D	MAP7D3_ENST00000370663.5_Silent_p.D450D|MAP7D3_ENST00000495432.1_5'Flank|MAP7D3_ENST00000370661.1_Silent_p.D433D	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	468					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CCTTTGGAGCGTCTCTCGCTT	0.423																																						ENST00000316077.9																			0				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44						c.(1402-1404)gaC>gaT		MAP7 domain containing 3							133.0	118.0	123.0					X																	135313712		1893	4109	6002	SO:0001819	synonymous_variant	79649					cytoplasm|spindle		g.chrX:135313712G>A	AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.1404C>T	X.37:g.135313712G>A						MAP7D3_ENST00000370661.1_Silent_p.D433D|MAP7D3_ENST00000370663.5_Silent_p.D450D	p.D468D	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN			8	1624	-	Acute lymphoblastic leukemia(192;0.000127)		468					A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Silent	SNP	ENST00000316077.9	37	c.1404C>T	CCDS44004.1																																																																																				0.423	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2			4	136	0	0	0	1	0	4	136				
TAS2R1	50834	broad.mit.edu	37	5	9629469	9629469	+	Missense_Mutation	SNP	C	C	T	rs145804099		TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr5:9629469C>T	ENST00000382492.2	-	1	994	c.676G>A	c.(676-678)Gcg>Acg	p.A226T	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	226					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)	p.A226S(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						GACAGCAACGCGCTGATGGGT	0.498																																						ENST00000382492.2																			1	Substitution - Missense(1)	p.A226S(1)	lung(1)	breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						c.(676-678)Gcg>Acg		taste receptor, type 2, member 1		C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	63.0	71.0	68.0		676	-0.5	0.0	5	dbSNP_134	68	0,8600		0,0,4300	no	missense	TAS2R1	NM_019599.2	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	226/300	9629469	1,13005	2203	4300	6503	SO:0001583	missense	50834				chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity	g.chr5:9629469C>T	AF227129	CCDS3876.1	5p15	2012-08-22			ENSG00000169777	ENSG00000169777		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14909	protein-coding gene	gene with protein product		604796				10761934, 10766242	Standard	NM_019599		Approved	T2R1, TRB7	uc003jem.1	Q9NYW7	OTTHUMG00000090500	ENST00000382492.2:c.676G>A	5.37:g.9629469C>T	ENSP00000371932:p.Ala226Thr					CTD-2001E22.1_ENST00000504182.2_RNA	p.A226T	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN			1	994	-			226					Q646G8	Missense_Mutation	SNP	ENST00000382492.2	37	c.676G>A	CCDS3876.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.643312	0.67244	2.27E-4	0.0	ENSG00000169777	ENST00000382492	T	0.01422	4.91	5.55	-0.544	0.11847	.	0.147373	0.43919	N	0.000501	T	0.04137	0.0115	M	0.83774	2.66	0.09310	N	1	D	0.67145	0.996	P	0.56343	0.796	T	0.27872	-1.0061	9	.	.	.	.	3.1173	0.06379	0.1096:0.5237:0.1658:0.2009	.	226	Q9NYW7	TA2R1_HUMAN	T	226	ENSP00000371932:A226T	.	A	-	1	0	TAS2R1	9682469	0.003000	0.15002	0.000000	0.03702	0.001000	0.01503	0.279000	0.18771	-0.293000	0.08986	0.655000	0.94253	GCG		0.498	TAS2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206988.2			7	50	0	0	0	1	0	7	50				
GPRASP1	9737	broad.mit.edu	37	X	101912054	101912054	+	Silent	SNP	G	G	A	rs369914637		TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chrX:101912054G>A	ENST00000361600.5	+	5	4014	c.3213G>A	c.(3211-3213)ccG>ccA	p.P1071P	GPRASP1_ENST00000537097.1_Silent_p.P1071P|GPRASP1_ENST00000415986.1_Silent_p.P1071P|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Silent_p.P1071P	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1071	OPRD1-binding.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TTAGATTTCCGAAAGAGGCAG	0.512																																						ENST00000537097.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(3211-3213)ccG>ccA		G protein-coupled receptor associated sorting protein 1		G	,,,,	1,3834		0,1,1631,571	116.0	120.0	118.0		3213,3213,3213,,3213	-5.7	0.0	X		118	0,6728		0,0,2428,1872	no	coding-synonymous,coding-synonymous,coding-synonymous,intron,coding-synonymous	GPRASP1,ARMCX5-GPRASP2	NM_001099410.1,NM_001099411.1,NM_001184727.1,NM_001199818.1,NM_014710.4	,,,,	0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095	,,,,	1071/1396,1071/1396,1071/1396,,1071/1396	101912054	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	9737					cytoplasm	protein binding	g.chrX:101912054G>A	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.3213G>A	X.37:g.101912054G>A						GPRASP1_ENST00000444152.1_Silent_p.P1071P|GPRASP1_ENST00000361600.5_Silent_p.P1071P|GPRASP1_ENST00000415986.1_Silent_p.P1071P|RP4-769N13.7_ENST00000602441.1_RNA	p.P1071P	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN			6	4026	+			1071			OPRD1-binding.		O43168|Q96LA1	Silent	SNP	ENST00000361600.5	37	c.3213G>A	CCDS35352.1																																																																																				0.512	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		20	132	0	0	0	1	0	20	132				
RFX4	5992	broad.mit.edu	37	12	107090062	107090062	+	Splice_Site	SNP	T	T	G			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr12:107090062T>G	ENST00000392842.1	+	8	1085	c.671T>G	c.(670-672)gTt>gGt	p.V224G	RFX4_ENST00000229387.5_Splice_Site_p.V130G|RFX4_ENST00000357881.4_Splice_Site_p.V233G|RP11-144F15.1_ENST00000551505.1_Intron	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	224					cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						TCAATACAGGTTCAAAGTTTC	0.552																																						ENST00000392842.1																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						c.e8-1		regulatory factor X, 4 (influences HLA class II expression)							110.0	95.0	101.0					12																	107090062		2203	4300	6503	SO:0001630	splice_region_variant	5992				transcription, DNA-dependent	nucleus	DNA binding	g.chr12:107090062T>G	AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.670-1T>G	12.37:g.107090062T>G						RFX4_ENST00000229387.5_Splice_Site_p.V130_splice|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Splice_Site_p.V233_splice	p.V224_splice	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN			8	1085	+			224					A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Splice_Site	SNP	ENST00000392842.1	37	c.669_splice	CCDS9106.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.621320	0.87460	.	.	ENSG00000111783	ENST00000392842;ENST00000357881;ENST00000266774;ENST00000551640;ENST00000229387	T;T;D;T	0.88509	-0.41;-0.4;-2.39;0.56	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.93910	0.8051	M	0.75615	2.305	0.80722	D	1	D;D;D;D	0.69078	0.993;0.981;0.981;0.997	D;D;D;D	0.72625	0.915;0.978;0.978;0.969	D	0.94615	0.7808	10	0.87932	D	0	-11.873	15.5434	0.76074	0.0:0.0:0.0:1.0	.	130;233;233;224	B2RDW4;Q33E94-2;Q33E94-4;Q33E94	.;.;.;RFX4_HUMAN	G	224;233;233;169;130	ENSP00000376585:V224G;ENSP00000350552:V233G;ENSP00000448694:V169G;ENSP00000229387:V130G	ENSP00000229387:V130G	V	+	2	0	RFX4	105614192	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.575000	0.82447	2.064000	0.61679	0.533000	0.62120	GTT		0.552	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402707.1	NM_032491	Missense_Mutation	13	62	0	0	0	1	0	13	62				
IGKV3-20	28912	broad.mit.edu	37	2	89442331	89442331	+	RNA	SNP	G	G	A	rs548180684		TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr2:89442331G>A	ENST00000492167.1	-	0	125									immunoglobulin kappa variable 3-20																		TGGAGACTGCGTCAACACAAT	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		13615	0.0		0.0	False		,,,				2504	0.001					ENST00000492167.1																			0																				93.0	92.0	93.0					2																	89442331		2002	4185	6187			0							g.chr2:89442331G>A	X12686		2p11.2	2012-02-08			ENSG00000239951	ENSG00000239951		"""Immunoglobulins / IGK locus"""	5817	other	immunoglobulin gene							Standard	NG_000834		Approved				OTTHUMG00000151639		2.37:g.89442331G>A														0	125	-									RNA	SNP	ENST00000492167.1	37																																																																																						0.493	IGKV3-20-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323388.1	NG_000834		10	86	0	0	0	1	0	10	86				
EGFR	1956	broad.mit.edu	37	7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	rs139236063		TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr7:55233043G>T	ENST00000275493.2	+	15	1970	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_ENST00000344576.2_Missense_Mutation_p.G598V|EGFR_ENST00000455089.1_Missense_Mutation_p.G553V|EGFR_ENST00000454757.2_Missense_Mutation_p.G545V|EGFR_ENST00000442591.1_Missense_Mutation_p.G598V|EGFR_ENST00000342916.3_Missense_Mutation_p.G598V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	598					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.G598V(15)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		15	Substitution - Missense(15)	p.G598V(15)	central_nervous_system(15)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(1792-1794)gGa>gTa		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						96.0	84.0	88.0					7																	55233043		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55233043G>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1793G>T	7.37:g.55233043G>T	ENSP00000275493:p.Gly598Val	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000342916.3_Missense_Mutation_p.G598V|EGFR_ENST00000442591.1_Missense_Mutation_p.G598V|EGFR_ENST00000454757.2_Missense_Mutation_p.G545V|EGFR_ENST00000455089.1_Missense_Mutation_p.G553V|EGFR_ENST00000344576.2_Missense_Mutation_p.G598V	p.G598V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		15	1970	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		598					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1793G>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567929	0.86439	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06	5.87	5.87	0.94306	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.75671	0.3881	H	0.94503	3.545	0.80722	D	1	D;D;D;D	0.89917	0.991;0.999;0.998;1.0	P;D;D;D	0.91635	0.729;0.924;0.977;0.999	T	0.81858	-0.0739	10	0.72032	D	0.01	.	18.7698	0.91887	0.0:0.0:1.0:0.0	.	553;598;598;598	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	V	553;598;468;598;598;598;545;392	ENSP00000415559:G553V;ENSP00000342376:G598V;ENSP00000345973:G598V;ENSP00000275493:G598V;ENSP00000410031:G598V;ENSP00000395243:G545V	ENSP00000275493:G598V	G	+	2	0	EGFR	55200537	1.000000	0.71417	0.454000	0.27019	0.665000	0.39181	7.905000	0.87416	2.785000	0.95823	0.655000	0.94253	GGA		0.567	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		176	127	1	0	1.06226e-90	1	1.23126e-90	176	127				
SLC22A16	85413	broad.mit.edu	37	6	110778136	110778136	+	Silent	SNP	G	G	A			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr6:110778136G>A	ENST00000368919.3	-	2	204	c.138C>T	c.(136-138)gtC>gtT	p.V46V	SLC22A16_ENST00000330550.4_Silent_p.V44V|SLC22A16_ENST00000439654.1_Silent_p.V46V|SLC22A16_ENST00000456137.2_Silent_p.V46V|SLC22A16_ENST00000461487.1_5'UTR	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	46					acid secretion (GO:0046717)|amine transport (GO:0015837)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|organic cation transport (GO:0015695)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carnitine transmembrane transporter activity (GO:0015226)|organic cation transmembrane transporter activity (GO:0015101)			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	Doxorubicin(DB00997)|L-Carnitine(DB00583)	GATGAGGGGTGACTCCCATGA	0.473																																						ENST00000368919.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						c.(136-138)gtC>gtT		solute carrier family 22 (organic cation/carnitine transporter), member 16							65.0	68.0	67.0					6																	110778136		2203	4300	6503	SO:0001819	synonymous_variant	85413				acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity	g.chr6:110778136G>A		CCDS5084.1	6q21	2013-05-22	2008-01-11		ENSG00000004809	ENSG00000004809		"""Solute carriers"""	20302	protein-coding gene	gene with protein product		608276	"""solute carrier family 22 (organic cation transporter), member 16"""			12372408, 12089149, 17473959	Standard	NM_033125		Approved	FLIPT2, CT2, OKB1, OAT6	uc003puf.3	Q86VW1	OTTHUMG00000016171	ENST00000368919.3:c.138C>T	6.37:g.110778136G>A						SLC22A16_ENST00000439654.1_Silent_p.V46V|SLC22A16_ENST00000330550.4_Silent_p.V44V|SLC22A16_ENST00000461487.1_5'UTR|SLC22A16_ENST00000456137.2_Silent_p.V46V	p.V46V	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	2	204	-		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)	46					O14567|Q5JXM1|Q8IUG8|Q8IZD5|Q96M90|Q96RU0	Silent	SNP	ENST00000368919.3	37	c.138C>T	CCDS5084.1																																																																																				0.473	SLC22A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043428.1	NM_033125		6	37	0	0	0	1	0	6	37				
NUTM1	256646	broad.mit.edu	37	15	34640382	34640382	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr15:34640382G>A	ENST00000333756.4	+	2	384	c.229G>A	c.(229-231)Ggc>Agc	p.G77S	NUTM1_ENST00000537011.1_Missense_Mutation_p.G105S|NUTM1_ENST00000438749.3_Missense_Mutation_p.G95S	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	77	Pro-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)											AGGGGATGGGGGCCCTTGCCT	0.562																																						ENST00000537011.1																			0											c.(313-315)Ggc>Agc		NUT midline carcinoma, family member 1							86.0	85.0	86.0					15																	34640382		2201	4298	6499	SO:0001583	missense	256646							g.chr15:34640382G>A	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.229G>A	15.37:g.34640382G>A	ENSP00000329448:p.Gly77Ser					NUTM1_ENST00000438749.3_Missense_Mutation_p.G95S|NUTM1_ENST00000333756.4_Missense_Mutation_p.G77S	p.G105S							3	695	+								B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Missense_Mutation	SNP	ENST00000333756.4	37	c.313G>A	CCDS32190.1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.393715	0.25205	.	.	ENSG00000184507	ENST00000537011;ENST00000438749;ENST00000354999;ENST00000333756	T;T;T	0.24723	1.84;1.84;1.84	5.69	2.79	0.32731	Nuclear Testis  protein, N-terminal (1);	0.364393	0.23444	N	0.048118	T	0.28001	0.0690	L	0.59436	1.845	0.09310	N	1	B;P;P	0.38597	0.437;0.639;0.552	B;B;B	0.42462	0.185;0.116;0.388	T	0.09164	-1.0687	10	0.49607	T	0.09	.	8.5956	0.33714	0.2121:0.0:0.7879:0.0	.	95;105;77	E7EVE8;F5H4I6;Q86Y26	.;.;NUT_HUMAN	S	105;95;77;77	ENSP00000444896:G105S;ENSP00000407031:G95S;ENSP00000329448:G77S	ENSP00000329448:G77S	G	+	1	0	C15orf55	32427674	0.061000	0.20836	0.003000	0.11579	0.454000	0.32378	0.553000	0.23391	0.336000	0.23639	0.655000	0.94253	GGC		0.562	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		6	131	0	0	0	1	0	6	131				
MACF1	23499	broad.mit.edu	37	1	39900289	39900289	+	Silent	SNP	A	A	G			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr1:39900289A>G	ENST00000372915.3	+	67	17544	c.17457A>G	c.(17455-17457)caA>caG	p.Q5819Q	MACF1_ENST00000567887.1_Silent_p.Q5960Q|MACF1_ENST00000317713.7_Silent_p.Q3861Q|MACF1_ENST00000539005.1_Silent_p.Q3731Q|MACF1_ENST00000564288.1_Silent_p.Q5923Q|MACF1_ENST00000545844.1_Silent_p.Q3861Q|MACF1_ENST00000361689.2_Silent_p.Q3861Q|MACF1_ENST00000289893.4_Silent_p.Q4363Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5819					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCAGGCAGCAACAAGAGGAAA	0.413																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(17767-17769)caA>caG		microtubule-actin crosslinking factor 1							63.0	63.0	63.0					1																	39900289		2203	4300	6503	SO:0001819	synonymous_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39900289A>G	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.17457A>G	1.37:g.39900289A>G						MACF1_ENST00000539005.1_Silent_p.Q3731Q|MACF1_ENST00000545844.1_Silent_p.Q3861Q|MACF1_ENST00000567887.1_Silent_p.Q5960Q|MACF1_ENST00000289893.4_Silent_p.Q4363Q|MACF1_ENST00000361689.2_Silent_p.Q3861Q|MACF1_ENST00000317713.7_Silent_p.Q3861Q|MACF1_ENST00000372915.3_Silent_p.Q5819Q	p.Q5923Q			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		69	18546	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	5920					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37	c.17769A>G		.	.	.	.	.	.	.	.	.	.	A	8.776	0.927094	0.18056	.	.	ENSG00000127603	ENST00000372925	.	.	.	5.8	-2.72	0.05968	.	.	.	.	.	T	0.62974	0.2472	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61950	-0.6957	4	.	.	.	.	13.0092	0.58722	0.4199:0.0:0.5801:0.0	.	.	.	.	A	2865	.	.	T	+	1	0	MACF1	39672876	1.000000	0.71417	0.985000	0.45067	0.966000	0.64601	1.189000	0.32114	-0.324000	0.08589	-0.177000	0.13119	ACA		0.413	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		3	58	0	0	0	1	0	3	58				
MIR3681HG	100506457	broad.mit.edu	37	2	12302757	12302758	+	lincRNA	DEL	CA	CA	-			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr2:12302757_12302758delCA	ENST00000412294.1	+	0	197																											acacacacatcacacacacaca	0.47																																						ENST00000412294.1																			0																																																			0							g.chr2:12302757_12302758delCA																													2.37:g.12302767_12302768delCA														0	197	+									RNA	DEL	ENST00000412294.1	37																																																																																						0.470	AC096559.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000323583.2			2	4						2	4	---	---	---	---
LOC105373525	105373525	broad.mit.edu	37	2	105201607	105201608	+	lincRNA	INS	-	-	G	rs397771813|rs58409201	byFrequency	TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr2:105201607_105201608insG	ENST00000438566.1	+	0	246_247																											CTGAGAAATCAGATCCCCAGGG	0.431													GG|G|GG|deletion	2634	0.525958	0.6694	0.5476	5008	,	,		16778	0.3681		0.4891	False		,,,				2504	0.5174					ENST00000438566.1																			0																																																			0							g.chr2:105201607_105201608insG																													2.37:g.105201608_105201608dupG														0	246_247	+									RNA	INS	ENST00000438566.1	37																																																																																						0.431	AC013402.3-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000329250.1			4	2						4	2	---	---	---	---
ITGA9	3680	broad.mit.edu	37	3	37867877	37867878	+	IGR	INS	-	-	C	rs58489274	byFrequency	TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr3:37867877_37867878insC	ENST00000264741.5	+	0	7889				AC093415.2_ENST00000430620.1_RNA|AC093415.2_ENST00000594579.1_RNA|AC093415.2_ENST00000445429.1_RNA|AC093415.2_ENST00000438136.1_RNA|AC093415.2_ENST00000429532.1_RNA|AC093415.2_ENST00000450990.1_RNA|AC093415.2_ENST00000366441.2_RNA|AC093415.2_ENST00000457661.1_RNA|AC093415.2_ENST00000420870.1_RNA	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060)	basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		CTCCTTTGTGTCCCCACCCTCA	0.421													CCCCC|CCCC|CCCCC|deletion	681	0.135982	0.2148	0.1066	5008	,	,		23148	0.0119		0.1918	False		,,,				2504	0.1207					ENST00000366441.2																			0																																																	SO:0001628	intergenic_variant	0							g.chr3:37867877_37867878insC	L24158	CCDS2669.1	3p21.3	2010-03-23			ENSG00000144668	ENSG00000144668		"""Integrins"""	6145	protein-coding gene	gene with protein product	"""integrin, alpha 4-like"""	603963				8245132, 8290272	Standard	NM_002207		Approved	RLC, ITGA4L, ALPHA-RLC	uc003chd.3	Q13797	OTTHUMG00000130815		3.37:g.37867881_37867881dupC						AC093415.2_ENST00000420870.1_RNA|AC093415.2_ENST00000450990.1_RNA|AC093415.2_ENST00000445429.1_RNA|AC093415.2_ENST00000438136.1_RNA|AC093415.2_ENST00000457661.1_RNA|AC093415.2_ENST00000594579.1_RNA|AC093415.2_ENST00000430620.1_RNA|AC093415.2_ENST00000429532.1_RNA								0	154	-								Q14638	RNA	INS	ENST00000264741.5	37		CCDS2669.1																																																																																				0.421	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253361.1	NM_002207		4	2						4	2	---	---	---	---
CTD-2185K10.1	0	broad.mit.edu	37	3	59080618	59080619	+	lincRNA	INS	-	-	A			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr3:59080618_59080619insA	ENST00000487624.1	+	0	117																											cacacacacgccacgcagacac	0.391																																						ENST00000487624.1																			0																																																			0							g.chr3:59080618_59080619insA																													3.37:g.59080618_59080619insA														0	117	+									RNA	INS	ENST00000487624.1	37																																																																																						0.391	CTD-2185K10.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000353799.1			2	4						2	4	---	---	---	---
CTC-436P18.1	101928630	broad.mit.edu	37	5	60525985	60525985	+	RNA	DEL	C	C	-			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr5:60525985delC	ENST00000506902.1	+	0	668																											GCCACCCTCTCCCCTCTCCTC	0.532																																						ENST00000506902.1																			0																																																			0							g.chr5:60525985delC																													5.37:g.60525985delC														0	668	+									RNA	DEL	ENST00000506902.1	37																																																																																						0.532	CTC-436P18.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000368079.1			2	4						2	4	---	---	---	---
FLJ16171	441116	broad.mit.edu	37	5	174357184	174357184	+	lincRNA	DEL	T	T	-			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr5:174357184delT	ENST00000377300.3	-	0	1281					NR_046113.1																						tccttccttcttttttttgat	0.488																																						ENST00000377300.3																			0																																																			0							g.chr5:174357184delT																													5.37:g.174357184delT								NR_046113.1						0	1281	-									RNA	DEL	ENST00000377300.3	37																																																																																						0.488	CTC-281M20.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000371773.1			2	4						2	4	---	---	---	---
RP11-239H6.2	0	broad.mit.edu	37	6	20226586	20226589	+	RNA	DEL	TCTA	TCTA	-	rs367846715|rs189267375	byFrequency	TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr6:20226586_20226589delTCTA	ENST00000449143.2	+	0	91																											tgtctgtctgtctatctatctatc	0.436																																						ENST00000449143.2																			0																																																			0							g.chr6:20226586_20226589delTCTA																													6.37:g.20226594_20226597delTCTA														0	91	+									RNA	DEL	ENST00000449143.2	37																																																																																						0.436	RP11-239H6.2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000039981.2			2	4						2	4	---	---	---	---
SRF	6722	broad.mit.edu	37	6	43139485	43139487	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr6:43139485_43139487delGGC	ENST00000265354.4	+	1	449_451	c.91_93delGGC	c.(91-93)ggcdel	p.G35del	SRF_ENST00000457278.2_5'Flank	NM_003131.2	NP_003122.1	P11831	SRF_HUMAN	serum response factor (c-fos serum response element-binding transcription factor)	35	Gly-rich.				angiogenesis involved in wound healing (GO:0060055)|associative learning (GO:0008306)|cardiac myofibril assembly (GO:0055003)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular senescence (GO:0090398)|contractile actin filament bundle assembly (GO:0030038)|developmental growth (GO:0048589)|dorsal aorta morphogenesis (GO:0035912)|epithelial cell-cell adhesion (GO:0090136)|epithelial structure maintenance (GO:0010669)|erythrocyte development (GO:0048821)|eyelid development in camera-type eye (GO:0061029)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula formation (GO:0060347)|hematopoietic stem cell differentiation (GO:0060218)|hippocampus development (GO:0021766)|long term synaptic depression (GO:0060292)|long-term memory (GO:0007616)|megakaryocyte development (GO:0035855)|mesoderm formation (GO:0001707)|morphogenesis of an epithelial sheet (GO:0002011)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|neuron development (GO:0048666)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|platelet formation (GO:0030220)|positive regulation of cell differentiation (GO:0045597)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription by glucose (GO:0046016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription via serum response element binding (GO:0010735)|positive thymic T cell selection (GO:0045059)|primitive streak formation (GO:0090009)|regulation of cell adhesion (GO:0030155)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of water loss via skin (GO:0033561)|response to cytokine (GO:0034097)|response to hormone (GO:0009725)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|sarcomere organization (GO:0045214)|skin morphogenesis (GO:0043589)|stress fiber assembly (GO:0043149)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|tight junction assembly (GO:0070830)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|serum response element binding (GO:0010736)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	12			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			ggggcggccgggcggcggcggcg	0.818																																						ENST00000265354.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	12						c.(91-93)del		serum response factor (c-fos serum response element-binding transcription factor)																																				SO:0001651	inframe_deletion	6722				angiogenesis involved in wound healing|cell migration involved in sprouting angiogenesis|cellular senescence|heart looping|muscle cell homeostasis|neuron development|positive regulation of cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of smooth muscle cell differentiation|response to cytokine stimulus|response to hormone stimulus|response to toxin|transcription from RNA polymerase II promoter|trophectodermal cell differentiation	endoplasmic reticulum	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding	g.chr6:43139485_43139487delGGC	J03161	CCDS4889.1	6p	2008-02-05			ENSG00000112658	ENSG00000112658			11291	protein-coding gene	gene with protein product		600589				3203386	Standard	NM_003131		Approved	MCM1	uc003oui.3	P11831	OTTHUMG00000014722	ENST00000265354.4:c.91_93delGGC	6.37:g.43139494_43139496delGGC	ENSP00000265354:p.Gly35del						p.G35del	NM_003131.2	NP_003122.1	P11831	SRF_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)		1	449_451	+			35			Gly-rich.		Q5T648	In_Frame_Del	DEL	ENST00000265354.4	37	c.91_93delGGC	CCDS4889.1																																																																																				0.818	SRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040581.1	NM_003131		4	7						4	7	---	---	---	---
HBS1L	10767	broad.mit.edu	37	6	135376554	135376554	+	5'Flank	DEL	C	C	-	rs536487784		TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr6:135376554delC	ENST00000367837.5	-	0	0				HBS1L_ENST00000525067.1_5'Flank|HBS1L_ENST00000415177.2_5'Flank|CTA-212D2.2_ENST00000447508.1_RNA|HBS1L_ENST00000367822.5_5'Flank|HBS1L_ENST00000367820.2_5'Flank|HBS1L_ENST00000367826.2_5'Flank|HBS1L_ENST00000314674.3_5'Flank	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase						signal transduction (GO:0007165)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		gtgggaggatcccctgagccc	0.547																																						ENST00000447508.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr6:135376554delC	U87791	CCDS5173.1, CCDS47479.1, CCDS47480.1	6q23.3	2014-04-30	2014-04-30		ENSG00000112339	ENSG00000112339			4834	protein-coding gene	gene with protein product	"""eRF3 family member"""	612450	"""HBS1 (S. cerevisiae)-like"", ""HBS1-like (S. cerevisiae)"""			9872408, 23667253	Standard	NM_006620		Approved	ERFS, HBS1, HSPC276, KIAA1038, DKFZp434g247, EF-1a, eRF3c	uc003qez.2	Q9Y450	OTTHUMG00000015626		6.37:g.135376554delC	Exception_encountered													0	384	+								B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	RNA	DEL	ENST00000367837.5	37		CCDS5173.1																																																																																				0.547	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042339.2			2	4						2	4	---	---	---	---
RP3-428L16.1	0	broad.mit.edu	37	6	161376390	161376390	+	RNA	DEL	A	A	-			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr6:161376390delA	ENST00000417479.1	+	0	293																											ttgactcggtaaaatatgcgt	0.433																																						ENST00000417479.1																			0																																																			0							g.chr6:161376390delA																													6.37:g.161376390delA														0	293	+									RNA	DEL	ENST00000417479.1	37																																																																																						0.433	RP3-428L16.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000042974.1			2	4						2	4	---	---	---	---
RP11-27P7.1	0	broad.mit.edu	37	8	60974592	60974592	+	lincRNA	DEL	G	G	-			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr8:60974592delG	ENST00000531077.1	+	0	311																											TCCCCAGACTGCCACAAACCT	0.393																																						ENST00000531077.1																			0																																																			0							g.chr8:60974592delG																													8.37:g.60974592delG														0	311	+									RNA	DEL	ENST00000531077.1	37																																																																																						0.393	RP11-27P7.1-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000383443.1			2	4						2	4	---	---	---	---
FABP12	646486	broad.mit.edu	37	8	82437068	82437069	+	IGR	INS	-	-	TAT	rs541187571|rs10627097|rs200985804	byFrequency	TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr8:82437068_82437069insTAT	ENST00000360464.4	-	0	551				RP11-257P3.3_ENST00000523380.1_RNA|RP11-257P3.3_ENST00000518637.1_RNA	NM_001105281.1	NP_001098751.1	A6NFH5	FBP12_HUMAN	fatty acid binding protein 12								lipid binding (GO:0008289)|transporter activity (GO:0005215)			large_intestine(1)|lung(3)	4						CTCTCTGAAAATATCCCAGCCT	0.371														2813	0.561701	0.8343	0.3847	5008	,	,		17644	0.8621		0.3042	False		,,,				2504	0.274					ENST00000523380.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr8:82437068_82437069insTAT		CCDS47882.1	8q21.13	2013-03-01			ENSG00000197416	ENSG00000197416		"""Fatty acid binding protein family"""	34524	protein-coding gene	gene with protein product						18786628	Standard	NM_001105281		Approved		uc011lfp.2	A6NFH5	OTTHUMG00000164679		8.37:g.82437069_82437071dupTAT						RP11-257P3.3_ENST00000518637.1_RNA								0	200	+								B7SUN0	RNA	INS	ENST00000360464.4	37		CCDS47882.1																																																																																				0.371	FABP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379720.1	NM_001105281		2	4						2	4	---	---	---	---
KB-1615E4.2	0	broad.mit.edu	37	8	101500755	101500755	+	RNA	DEL	C	C	-			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr8:101500755delC	ENST00000523831.1	+	0	147																											AGGGAGGGGACCCATGGGCTG	0.517																																						ENST00000523831.1																			0																																																			0							g.chr8:101500755delC																													8.37:g.101500755delC														0	147	+									RNA	DEL	ENST00000523831.1	37																																																																																						0.517	KB-1615E4.2-001	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000379897.1			2	4						2	4	---	---	---	---
KB-1507C5.4	0	broad.mit.edu	37	8	104000951	104000952	+	lincRNA	DEL	CC	CC	-			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr8:104000951_104000952delCC	ENST00000517983.1	+	0	171																											aacagcctggccaacatggcaa	0.525																																						ENST00000517983.1																			0																																																			0							g.chr8:104000951_104000952delCC																													8.37:g.104000951_104000952delCC														0	171	+									RNA	DEL	ENST00000517983.1	37																																																																																						0.525	KB-1507C5.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000380542.1			2	4						2	4	---	---	---	---
FLJ12825	440101	broad.mit.edu	37	12	54499109	54499110	+	lincRNA	INS	-	-	A	rs373471612		TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr12:54499109_54499110insA	ENST00000515617.1	+	0	311				RP11-834C11.6_ENST00000504891.1_lincRNA	NR_026655.1																						cccatctctacaaaaaaagcaa	0.51																																						ENST00000515617.1																			0																																																			0							g.chr12:54499109_54499110insA																													12.37:g.54499116_54499116dupA								NR_026655.1						0	311	+									RNA	INS	ENST00000515617.1	37																																																																																						0.510	RP11-834C11.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000358961.1			6	1						6	1	---	---	---	---
MAP3K9	4293	broad.mit.edu	37	14	71275774	71275776	+	In_Frame_Del	DEL	CCT	CCT	-	rs397840789|rs201322413		TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr14:71275774_71275776delCCT	ENST00000554752.2	-	1	112_114	c.113_115delAGG	c.(112-117)gaggcg>gcg	p.E38del	MAP3K9_ENST00000381250.4_In_Frame_Del_p.E38del|MAP3K9_ENST00000555993.2_In_Frame_Del_p.E38del|RP6-65G23.3_ENST00000557691.1_lincRNA	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	38	Ala-rich.|Poly-Glu.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.E38delE(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GCCGCCGCCGcctcctcctcctc	0.773																																					GBM(114;411 1587 13539 28235 50070)	ENST00000554752.2																			1	Deletion - In frame(1)	p.E38delE(1)	ovary(1)	breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46						c.(112-117)gcg>g		mitogen-activated protein kinase kinase kinase 9																																				SO:0001651	inframe_deletion	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71275774_71275776delCCT	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.113_115delAGG	14.37:g.71275783_71275785delCCT	ENSP00000451612:p.Glu38del					MAP3K9_ENST00000381250.4_In_Frame_Del_p.EA38del|MAP3K9_ENST00000555993.2_In_Frame_Del_p.EA38del	p.EA38del			P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	1	112_114	-			38			Ala-rich.|Poly-Glu.		A3KN85|Q0D2G7|Q6EH31|Q9H2N5	In_Frame_Del	DEL	ENST00000554752.2	37	c.113_115delAGG																																																																																					0.773	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			2	4						2	4	---	---	---	---
RP11-1113L8.1	0	broad.mit.edu	37	17	19485934	19485935	+	RNA	INS	-	-	T			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr17:19485934_19485935insT	ENST00000574267.1	-	0	26				AC025627.7_ENST00000420951.1_RNA																							ATGTGCCATGGTAGAAGGTGAA	0.53																																						ENST00000574267.1																			0																																																			0							g.chr17:19485934_19485935insT																													17.37:g.19485935_19485935dupT						AC025627.7_ENST00000420951.1_RNA								0	26	-									RNA	INS	ENST00000574267.1	37																																																																																						0.530	RP11-1113L8.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000440979.1			2	4						2	4	---	---	---	---
TMEM199	147007	broad.mit.edu	37	17	26684394	26684395	+	5'Flank	INS	-	-	G	rs202089331|rs17856014	byFrequency	TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr17:26684394_26684395insG	ENST00000292114.3	+	0	0				CTB-96E2.3_ENST00000591482.1_RNA|POLDIP2_ENST00000003607.4_5'UTR|TMEM199_ENST00000395404.3_5'Flank|TMEM199_ENST00000509083.1_5'Flank|POLDIP2_ENST00000540200.1_Splice_Site	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199							integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		AGAGCGGCTTTGCCACCGGGCC	0.762																																						ENST00000540200.1																			0											c.e1+1		polymerase (DNA-directed), delta interacting protein 2				2770,50		1380,10,20						0.4	0.1		dbSNP_130	4	6440,112		3203,34,39	no	frameshift	POLDIP2	NM_015584.3		4583,44,59	A1A1,A1R,RR		1.7094,1.773,1.7286				9210,162				SO:0001631	upstream_gene_variant	26073					mitochondrial nucleoid|nucleus		g.chr17:26684394_26684395insG	AY074907	CCDS11228.1	17q11.2	2007-12-17	2007-12-17	2007-12-17	ENSG00000244045	ENSG00000244045			18085	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 32"""	C17orf32			Standard	NM_152464		Approved	MGC45714	uc002hba.3	Q8N511	OTTHUMG00000132498		17.37:g.26684395_26684395dupG	Exception_encountered					POLDIP2_ENST00000003607.4_5'UTR		NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	1	78	-	all_lung(13;0.000354)|Lung NSC(42;0.00115)								Splice_Site	INS	ENST00000292114.3	37		CCDS11228.1																																																																																				0.762	TMEM199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255676.2	NM_152464		5	1						5	1	---	---	---	---
LRRC37A11P	342666	broad.mit.edu	37	17	37201989	37201989	+	RNA	DEL	T	T	-			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr17:37201989delT	ENST00000425901.2	+	0	3239					NR_033753.2				leucine rich repeat containing 37, member A11, pseudogene																		catgactgcatttttttggca	0.512																																						ENST00000425901.2																			0																																																			0							g.chr17:37201989delT			17q12	2013-05-14			ENSG00000214553	ENSG00000214553			43815	pseudogene	pseudogene							Standard	NR_033753		Approved		uc002hrd.1		OTTHUMG00000133184		17.37:g.37201989delT								NR_033753.2						0	3239	+									RNA	DEL	ENST00000425901.2	37																																																																																						0.512	LRRC37A11P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444105.1	NR_033753		2	4						2	4	---	---	---	---
LOC440446	440446	broad.mit.edu	37	17	49414077	49414078	+	lincRNA	DEL	CT	CT	-	rs3029085|rs397758765	byFrequency	TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr17:49414077_49414078delCT	ENST00000441895.2	+	0	2_3				RP11-1018N14.1_ENST00000514726.1_lincRNA|RP11-1018N14.3_ENST00000505978.1_lincRNA|RP11-1018N14.4_ENST00000510059.1_lincRNA																							gcacgaggcactctctgccctt	0.51														499	0.0996406	0.2761	0.0533	5008	,	,		22765	0.0		0.0487	False		,,,				2504	0.0491					ENST00000441895.2																			0																																																			0							g.chr17:49414077_49414078delCT																													17.37:g.49414081_49414082delCT														0	2_3	+									RNA	DEL	ENST00000441895.2	37																																																																																						0.510	RP11-1018N14.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000368659.1			5	2						5	2	---	---	---	---
LINC01476	101927728	broad.mit.edu	37	17	57556551	57556551	+	lincRNA	DEL	C	C	-			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr17:57556551delC	ENST00000584262.1	-	0	583																											TCTTCCATCTCTGTGTCACTC	0.493																																						ENST00000584262.1																			0																																																			0							g.chr17:57556551delC																													17.37:g.57556551delC														0	583	-									RNA	DEL	ENST00000584262.1	37																																																																																						0.493	RP11-567L7.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000446039.1			2	4						2	4	---	---	---	---
LINC00229	414351	broad.mit.edu	37	22	45015467	45015468	+	lincRNA	INS	-	-	GT	rs144123826|rs369169627	byFrequency	TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr22:45015467_45015468insGT	ENST00000443783.1	-	0	390					NR_044991.1				long intergenic non-protein coding RNA 229																		tgtactgtggagtgtgtgtgtg	0.54																																						ENST00000443783.1																			0																																																			0							g.chr22:45015467_45015468insGT			22q13.3	2012-10-12	2011-08-11	2011-08-11	ENSG00000234300	ENSG00000234300		"""Long non-coding RNAs"""	13240	non-coding RNA	RNA, long non-coding			"""chromosome 22 open reading frame 10"", ""non-protein coding RNA 229"""	C22orf10, NCRNA00229			Standard	NR_044991		Approved	dJ474I12.C22.2	uc021wrf.1		OTTHUMG00000149974		22.37:g.45015476_45015477dupGT								NR_044991.1						0	390	-									RNA	INS	ENST00000443783.1	37																																																																																						0.540	LINC00229-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000314900.1			2	4						2	4	---	---	---	---
LOC101928627	101928627	broad.mit.edu	37	X	36430212	36430213	+	RNA	INS	-	-	T			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chrX:36430212_36430213insT	ENST00000455438.2	-	0	1404																											TTTATGTGCTGTTTTTTTCAGG	0.361																																						ENST00000455438.1																			0																																																			0							g.chrX:36430212_36430213insT																													X.37:g.36430219_36430219dupT														0	4404	-									RNA	INS	ENST00000455438.2	37																																																																																						0.361	RP11-87M18.2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000056224.2			2	4						2	4	---	---	---	---
