#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
KRT15	3866	broad.mit.edu	37	17	39673194	39673194	+	Missense_Mutation	SNP	G	G	A	rs201818657		TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr17:39673194G>A	ENST00000254043.3	-	3	4189	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C	KRT15_ENST00000393981.3_Missense_Mutation_p.R37C|KRT15_ENST00000393976.2_Missense_Mutation_p.R202C|KRT15_ENST00000393974.3_Missense_Mutation_p.R37C	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	202	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				ACGCCCTGGCGCAGGGCCAGC	0.597																																						ENST00000254043.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(604-606)Cgc>Tgc		keratin 15		G	CYS/ARG	0,4406		0,0,2203	72.0	74.0	73.0		604	4.9	1.0	17		73	1,8599		0,1,4299	yes	missense	KRT15	NM_002275.3	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	202/457	39673194	1,13005	2203	4300	6503	SO:0001583	missense	3866				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39673194G>A		CCDS11398.1	17q21.2	2013-06-20			ENSG00000171346	ENSG00000171346		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6421	protein-coding gene	gene with protein product	"""keratin-15, basic"", ""keratin-15, beta"", ""type I cytoskeletal 15"", ""cytokeratin 15"""	148030				16831889	Standard	NM_002275		Approved	K15, CK15, K1CO	uc002hwy.3	P19012	OTTHUMG00000133435	ENST00000254043.3:c.604C>T	17.37:g.39673194G>A	ENSP00000254043:p.Arg202Cys					KRT15_ENST00000393974.3_Missense_Mutation_p.R37C|KRT15_ENST00000393981.3_Missense_Mutation_p.R37C|KRT15_ENST00000393976.2_Missense_Mutation_p.R202C	p.R202C	NM_002275.3	NP_002266.2	P19012	K1C15_HUMAN			3	4189	-		Breast(137;0.000286)	202			Coil 1B.|Rod.		B3KQY1|B3KRA2|E0CX14|Q53XV8|Q9BUG4	Missense_Mutation	SNP	ENST00000254043.3	37	c.604C>T	CCDS11398.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.250801	0.59212	0.0	1.16E-4	ENSG00000171346	ENST00000254043;ENST00000393974;ENST00000393976;ENST00000393981;ENST00000458290	D;D;D;D;D	0.91792	-2.91;-2.91;-2.91;-2.91;-2.91	4.86	4.86	0.63082	Filament (1);	0.000000	0.50627	D	0.000119	D	0.95526	0.8546	M	0.78916	2.43	0.80722	D	1	D;P;D	0.89917	1.0;0.928;0.989	D;P;P	0.87578	0.998;0.632;0.808	D	0.95614	0.8675	10	0.72032	D	0.01	.	13.1878	0.59691	0.0:0.0:0.8407:0.1593	.	37;202;202	A8MT21;B3KVF5;P19012	.;.;K1C15_HUMAN	C	202;37;202;37;37	ENSP00000254043:R202C;ENSP00000377544:R37C;ENSP00000377546:R202C;ENSP00000377550:R37C;ENSP00000409282:R37C	ENSP00000254043:R202C	R	-	1	0	KRT15	36926720	0.998000	0.40836	1.000000	0.80357	0.351000	0.29236	4.362000	0.59467	2.514000	0.84764	0.650000	0.86243	CGC		0.597	KRT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257301.1	NM_002275		23	80	0	0	0	1	0	23	80				
ZAN	7455	broad.mit.edu	37	7	100349693	100349693	+	RNA	SNP	C	C	T	rs370829788		TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr7:100349693C>T	ENST00000348028.3	+	0	2130				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000542585.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AAAAACCCACCGTCCCCACAG	0.517																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							209.0	236.0	227.0					7																	100349693		1883	4115	5998			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100349693C>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100349693C>T						ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	2113	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37																																																																																						0.517	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		34	152	0	0	0	1	0	34	152				
OR4K13	390433	broad.mit.edu	37	14	20502322	20502322	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr14:20502322A>G	ENST00000315693.2	-	1	597	c.596T>C	c.(595-597)gTc>gCc	p.V199A	AL359218.1_ENST00000580563.1_RNA	NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		GTCAGCAATGACCAGGAGCTG	0.488																																						ENST00000315693.2																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24						c.(595-597)gTc>gCc		olfactory receptor, family 4, subfamily K, member 13							117.0	116.0	116.0					14																	20502322		2203	4300	6503	SO:0001583	missense	390433				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20502322A>G		CCDS32028.1	14q11.2	2013-09-23			ENSG00000176253	ENSG00000176253		"""GPCR / Class A : Olfactory receptors"""	15351	protein-coding gene	gene with protein product							Standard	NM_001004714		Approved		uc010tkz.2	Q8NH42	OTTHUMG00000170781	ENST00000315693.2:c.596T>C	14.37:g.20502322A>G	ENSP00000319322:p.Val199Ala						p.V199A	NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)	1	597	-	all_cancers(95;0.00108)		199					Q6IF13	Missense_Mutation	SNP	ENST00000315693.2	37	c.596T>C	CCDS32028.1	.	.	.	.	.	.	.	.	.	.	.	10.31	1.315479	0.23908	.	.	ENSG00000176253	ENST00000315693	T	0.00169	8.63	3.46	3.46	0.39613	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35262	U	0.003328	T	0.00271	0.0008	M	0.64080	1.96	0.09310	N	1	P	0.41710	0.76	P	0.46208	0.507	T	0.38735	-0.9647	10	0.87932	D	0	.	11.0505	0.47884	1.0:0.0:0.0:0.0	.	199	Q8NH42	OR4KD_HUMAN	A	199	ENSP00000319322:V199A	ENSP00000319322:V199A	V	-	2	0	OR4K13	19572162	0.000000	0.05858	0.836000	0.33094	0.040000	0.13550	0.675000	0.25232	1.434000	0.47414	0.421000	0.28195	GTC		0.488	OR4K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410344.1			5	70	0	0	0	1	0	5	70				
CDCA7L	55536	broad.mit.edu	37	7	21948089	21948089	+	Missense_Mutation	SNP	A	A	C			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr7:21948089A>C	ENST00000406877.3	-	4	619	c.340T>G	c.(340-342)Tct>Gct	p.S114A	CDCA7L_ENST00000356195.5_Missense_Mutation_p.S80A|CDCA7L_ENST00000373934.4_Missense_Mutation_p.S68A|CDCA7L_ENST00000465490.1_5'UTR	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	114	PSIP1-binding.				positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						CTCACCAAAGATGCTTTGCCA	0.418																																						ENST00000406877.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						c.(340-342)Tct>Gct		cell division cycle associated 7-like							91.0	83.0	86.0					7																	21948089		2203	4300	6503	SO:0001583	missense	55536				positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus		g.chr7:21948089A>C		CCDS5374.1, CCDS47558.1, CCDS47559.1	7p15.3	2007-04-27			ENSG00000164649	ENSG00000164649			30777	protein-coding gene	gene with protein product		609685				16829576	Standard	NM_018719		Approved	RAM2, R1, JPO2	uc010kuk.3	Q96GN5	OTTHUMG00000128429	ENST00000406877.3:c.340T>G	7.37:g.21948089A>C	ENSP00000383986:p.Ser114Ala					CDCA7L_ENST00000465490.1_5'UTR|CDCA7L_ENST00000373934.4_Missense_Mutation_p.S68A|CDCA7L_ENST00000356195.5_Missense_Mutation_p.S80A	p.S114A	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN			4	619	-			114			PSIP1-binding.		A4D141|A6NF50|B3KTR5|B4DUT3|C9K0Y1|Q6PIL4|Q86YT0|Q8IXN5|Q96C70|Q9H9A2|Q9NPV2	Missense_Mutation	SNP	ENST00000406877.3	37	c.340T>G	CCDS5374.1	.	.	.	.	.	.	.	.	.	.	A	14.67	2.604583	0.46423	.	.	ENSG00000164649	ENST00000356195;ENST00000406877;ENST00000373934;ENST00000457951;ENST00000447180;ENST00000435031	T;T;T;T	0.44881	0.96;0.96;0.99;0.91	5.95	-3.2	0.05156	.	0.885835	0.10014	N	0.726880	T	0.24314	0.0589	L	0.34521	1.04	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.0;0.001	B;B;B;B	0.06405	0.001;0.001;0.001;0.002	T	0.20974	-1.0259	10	0.40728	T	0.16	-10.2615	2.5008	0.04633	0.5097:0.2018:0.1903:0.0981	.	114;68;114;113	A8K8X5;C9K0Y1;Q96GN5;Q96GN5-2	.;.;CDA7L_HUMAN;.	A	80;114;68;67;79;80	ENSP00000348523:S80A;ENSP00000383986:S114A;ENSP00000363045:S68A;ENSP00000406616:S67A	ENSP00000348523:S80A	S	-	1	0	CDCA7L	21914614	0.000000	0.05858	0.000000	0.03702	0.545000	0.35147	-0.350000	0.07721	-0.399000	0.07668	0.533000	0.62120	TCT		0.418	CDCA7L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250218.4	NM_018719		9	91	0	0	0	1	0	9	91				
RIPK4	54101	broad.mit.edu	37	21	43161239	43161239	+	Missense_Mutation	SNP	G	G	A	rs200764815	byFrequency	TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr21:43161239G>A	ENST00000352483.2	-	9	2322	c.2258C>T	c.(2257-2259)aCg>aTg	p.T753M	AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000332512.3_Missense_Mutation_p.T705M|RIPK4_ENST00000544709.1_Missense_Mutation_p.T642M|RIPK4_ENST00000542057.1_Missense_Mutation_p.T642M			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	753					morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GTGCAGCGCCGTCTGGTTCAG	0.677													G|||	2	0.000399361	0.0	0.0	5008	,	,		16871	0.002		0.0	False		,,,				2504	0.0					ENST00000352483.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(2257-2259)aCg>aTg		receptor-interacting serine-threonine kinase 4							57.0	64.0	62.0					21																	43161239		2203	4298	6501	SO:0001583	missense	54101					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr21:43161239G>A	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"""Ankyrin repeat domain containing"""	496	protein-coding gene	gene with protein product	"""protein kinase C-associated kinase"", ""PKC-delta-interacting protein kinase"""	605706	"""ankyrin repeat domain 3"""	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.2258C>T	21.37:g.43161239G>A	ENSP00000330161:p.Thr753Met					RIPK4_ENST00000542057.1_Missense_Mutation_p.T642M|AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000332512.3_Missense_Mutation_p.T705M|RIPK4_ENST00000544709.1_Missense_Mutation_p.T642M	p.T753M			Q96T11	Q96T11_HUMAN			9	2322	-			705					Q96KH0	Missense_Mutation	SNP	ENST00000352483.2	37	c.2258C>T		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	16.57	3.160902	0.57368	.	.	ENSG00000183421	ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057	T;T;T;T	0.28069	1.63;1.63;1.63;1.63	4.61	4.61	0.57282	.	0.000000	0.53938	D	0.000046	T	0.64472	0.2601	M	0.91038	3.17	0.50313	D	0.999866	D	0.89917	1.0	D	0.91635	0.999	T	0.75082	-0.3443	10	0.87932	D	0	-23.1258	16.4999	0.84254	0.0:0.0:1.0:0.0	.	705	P57078-2	.	M	705;753;642;642	ENSP00000332454:T705M;ENSP00000330161:T753M;ENSP00000441754:T642M;ENSP00000442901:T642M	ENSP00000332454:T705M	T	-	2	0	RIPK4	42034308	1.000000	0.71417	0.995000	0.50966	0.585000	0.36419	7.283000	0.78640	2.116000	0.64780	0.650000	0.86243	ACG		0.677	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		8	126	0	0	0	1	0	8	126				
ICE1	23379	broad.mit.edu	37	5	5463794	5463794	+	Silent	SNP	T	T	A			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr5:5463794T>A	ENST00000296564.7	+	13	4569	c.4347T>A	c.(4345-4347)ccT>ccA	p.P1449P		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1449					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GAGACATCCCTATTTCTCAGG	0.522																																						ENST00000296564.7																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(4345-4347)ccT>ccA		KIAA0947							83.0	81.0	82.0					5																	5463794		1967	4167	6134	SO:0001819	synonymous_variant	23379							g.chr5:5463794T>A																												ENST00000296564.7:c.4347T>A	5.37:g.5463794T>A							p.P1449P	NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN			13	4569	+			1449					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Silent	SNP	ENST00000296564.7	37	c.4347T>A	CCDS47187.1																																																																																				0.522	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			8	73	0	0	0	1	0	8	73				
CCNF	899	broad.mit.edu	37	16	2498903	2498903	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr16:2498903C>T	ENST00000397066.4	+	11	1230	c.1142C>T	c.(1141-1143)aCg>aTg	p.T381M		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	381	Cyclin N-terminal.				mitotic nuclear division (GO:0007067)|negative regulation of centrosome duplication (GO:0010826)|placenta development (GO:0001890)|protein ubiquitination (GO:0016567)|re-entry into mitotic cell cycle (GO:0000320)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	centriole (GO:0005814)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				GTATGGCTCACGGACAACACT	0.557																																						ENST00000397066.4																			0				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20						c.(1141-1143)aCg>aTg		cyclin F							101.0	96.0	98.0					16																	2498903		2198	4300	6498	SO:0001583	missense	899				cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding	g.chr16:2498903C>T	Z36714	CCDS10467.1	16p13.3	2008-02-05			ENSG00000162063	ENSG00000162063		"""F-boxes /  ""other"""""	1591	protein-coding gene	gene with protein product		600227				7896286	Standard	NM_001761		Approved	FBX1, FBXO1	uc002cqd.1	P41002	OTTHUMG00000128858	ENST00000397066.4:c.1142C>T	16.37:g.2498903C>T	ENSP00000380256:p.Thr381Met						p.T381M	NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN			11	1230	+		Ovarian(90;0.17)	381			Cyclin N-terminal.		B2R8H3|Q96EG9	Missense_Mutation	SNP	ENST00000397066.4	37	c.1142C>T	CCDS10467.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.987551	0.74589	.	.	ENSG00000162063	ENST00000397066;ENST00000293968	T	0.20200	2.09	5.39	5.39	0.77823	Cyclin, N-terminal (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	T	0.56031	0.1958	M	0.90425	3.115	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65520	-0.6148	10	0.87932	D	0	-15.1293	17.7372	0.88397	0.0:1.0:0.0:0.0	.	381	P41002	CCNF_HUMAN	M	381;296	ENSP00000380256:T381M	ENSP00000293968:T296M	T	+	2	0	CCNF	2438904	1.000000	0.71417	0.986000	0.45419	0.432000	0.31715	7.566000	0.82347	2.531000	0.85337	0.462000	0.41574	ACG		0.557	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250801.1	NM_001761		4	110	0	0	0	1	0	4	110				
ZNF479	90827	broad.mit.edu	37	7	57194409	57194409	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr7:57194409C>G	ENST00000331162.4	-	3	326	c.56G>C	c.(55-57)aGa>aCa	p.R19T		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	19	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			AGCTATGTCTCTGAATGTCAA	0.413																																						ENST00000331162.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84						c.(55-57)aGa>aCa		zinc finger protein 479							41.0	42.0	42.0					7																	57194409		2120	4261	6381	SO:0001583	missense	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57194409C>G	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.56G>C	7.37:g.57194409C>G	ENSP00000333776:p.Arg19Thr						p.R19T	NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		3	326	-			19			KRAB.			Missense_Mutation	SNP	ENST00000331162.4	37	c.56G>C	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	c	8.707	0.911132	0.17833	.	.	ENSG00000185177	ENST00000331162	T	0.01804	4.63	1.25	-1.43	0.08884	Krueppel-associated box (4);	.	.	.	.	T	0.07954	0.0199	M	0.82823	2.61	0.09310	N	1	D	0.69078	0.997	D	0.80764	0.994	T	0.10086	-1.0645	9	0.54805	T	0.06	.	5.7014	0.17885	0.0:0.6096:0.0:0.3904	.	19	Q96JC4	ZN479_HUMAN	T	19	ENSP00000333776:R19T	ENSP00000333776:R19T	R	-	2	0	ZNF479	57198351	0.005000	0.15991	0.005000	0.12908	0.001000	0.01503	-0.424000	0.07025	-0.285000	0.09089	-0.515000	0.04445	AGA		0.413	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		15	101	0	0	0	1	0	15	101				
MUC17	140453	broad.mit.edu	37	7	100678561	100678561	+	Silent	SNP	G	G	T			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr7:100678561G>T	ENST00000306151.4	+	3	3928	c.3864G>T	c.(3862-3864)acG>acT	p.T1288T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1288	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.T1288T(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCAGCACCACGCTGGTGACCA	0.473																																						ENST00000306151.4																			1	Substitution - coding silent(1)	p.T1288T(1)	lung(1)	NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(3862-3864)acG>acT		mucin 17, cell surface associated							272.0	261.0	265.0					7																	100678561		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100678561G>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.3864G>T	7.37:g.100678561G>T							p.T1288T	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	3928	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1288			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.3864G>T	CCDS34711.1																																																																																				0.473	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		7	744	1	0	6.94344e-10	1	7.14183e-10	7	744				
CD300C	10871	broad.mit.edu	37	17	72541027	72541027	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr17:72541027C>T	ENST00000330793.1	-	2	481	c.121G>A	c.(121-123)Gtg>Atg	p.V41M		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	41	Ig-like V-type.				cellular defense response (GO:0006968)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						CGACACTGCACACTCAGGGAT	0.537																																					Esophageal Squamous(66;421 1121 20537 25337 27468)	ENST00000330793.1																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						c.(121-123)Gtg>Atg		CD300c molecule							73.0	69.0	71.0					17																	72541027		2203	4300	6503	SO:0001583	missense	10871				cellular defense response	integral to plasma membrane	transmembrane receptor activity	g.chr17:72541027C>T	BC022279	CCDS11701.1	17q25.2	2014-05-15	2006-03-28		ENSG00000167850	ENSG00000167850		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	19320	protein-coding gene	gene with protein product		606786	"""CD300c antigen"""			1349532, 10746781	Standard	NM_006678		Approved	CMRF35, LIR, CMRF-35A, CMRF35A, IGSF16	uc002jky.2	Q08708	OTTHUMG00000067608	ENST00000330793.1:c.121G>A	17.37:g.72541027C>T	ENSP00000329507:p.Val41Met						p.V41M	NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN			2	481	-			41			Ig-like V-type.			Missense_Mutation	SNP	ENST00000330793.1	37	c.121G>A	CCDS11701.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.875992	0.51695	.	.	ENSG00000167850	ENST00000330793	T	0.64991	-0.13	4.33	1.16	0.20824	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.168842	0.27406	N	0.019505	T	0.75576	0.3868	M	0.86805	2.84	0.09310	N	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.63093	-0.6714	10	0.87932	D	0	.	3.9013	0.09162	0.0:0.577:0.2028:0.2202	.	41	Q08708	CLM6_HUMAN	M	41	ENSP00000329507:V41M	ENSP00000329507:V41M	V	-	1	0	CD300C	70052622	0.000000	0.05858	0.021000	0.16686	0.084000	0.17831	0.030000	0.13688	0.522000	0.28464	0.556000	0.70494	GTG		0.537	CD300C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145084.1	NM_006678		22	75	0	0	0	1	0	22	75				
CDKN2AIP	55602	broad.mit.edu	37	4	184367380	184367380	+	Silent	SNP	G	G	A			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr4:184367380G>A	ENST00000504169.1	+	3	750	c.543G>A	c.(541-543)tcG>tcA	p.S181S	CDKN2AIP_ENST00000302350.4_3'UTR|CDKN2AIP_ENST00000506835.1_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	181	Ser-rich.				negative regulation of cell growth (GO:0030308)|positive regulation of signal transduction (GO:0009967)|regulation of protein stability (GO:0031647)	cytoplasm (GO:0005737)|granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	p53 binding (GO:0002039)|RNA binding (GO:0003723)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		GTATAGGGTCGGCCATCAAAT	0.483																																						ENST00000504169.1																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6						c.(541-543)tcG>tcA		CDKN2A interacting protein							94.0	92.0	92.0					4																	184367380		2203	4300	6503	SO:0001819	synonymous_variant	55602				negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding	g.chr4:184367380G>A	AK000043	CCDS34110.1	4q35.1	2008-02-05			ENSG00000168564	ENSG00000168564			24325	protein-coding gene	gene with protein product	"""collaborates/cooperates with ARF (alternate reading frame) protein"""	615914				12154087, 16803988	Standard	NM_017632		Approved	FLJ20036, CARF	uc003ivp.1	Q9NXV6	OTTHUMG00000160626	ENST00000504169.1:c.543G>A	4.37:g.184367380G>A						CDKN2AIP_ENST00000506835.1_3'UTR|CDKN2AIP_ENST00000302350.4_3'UTR	p.S181S	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	3	750	+		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	181			Ser-rich.		Q8TBM5|Q9NYH0	Silent	SNP	ENST00000504169.1	37	c.543G>A	CCDS34110.1																																																																																				0.483	CDKN2AIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361488.1	NM_017632		4	64	0	0	0	1	0	4	64				
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	lincRNA	SNP	C	C	G	rs199933143		TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr1:142713773C>G	ENST00000610091.1	-	0	1885																											TCTTTTTCCACATTGTCATTT	0.284																																						ENST00000369381.2																			0																																																			0							g.chr1:142713773C>G																													1.37:g.142713773C>G														0	832	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			5	125	0	0	0	1	0	5	125				
ATF6B	1388	broad.mit.edu	37	6	32089121	32089121	+	Silent	SNP	G	G	C			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr6:32089121G>C	ENST00000375203.3	-	6	515	c.483C>G	c.(481-483)gtC>gtG	p.V161V	ATF6B_ENST00000375201.4_Silent_p.V158V	NM_001136153.1|NM_004381.4	NP_001129625.1|NP_004372.3	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	161					response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						TCTTGGTCTGGACATCTGTGG	0.547																																						ENST00000375201.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						c.(472-474)gtC>gtG		activating transcription factor 6 beta							112.0	84.0	93.0					6																	32089121		2203	4300	6503	SO:0001819	synonymous_variant	1388				response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:32089121G>C		CCDS47408.1, CCDS4737.1	6p21.3	2013-01-10	2008-10-21	2008-10-21	ENSG00000213676	ENSG00000213676		"""basic leucine zipper proteins"""	2349	protein-coding gene	gene with protein product		600984	"""cAMP responsive element binding protein-like 1"""	CREBL1		11256944, 14973138	Standard	NM_004381		Approved	G13	uc003nzn.3	Q99941	OTTHUMG00000031296	ENST00000375203.3:c.483C>G	6.37:g.32089121G>C						ATF6B_ENST00000375203.3_Silent_p.V161V	p.V158V			Q99941	ATF6B_HUMAN			6	519	-			161					B0UYX6|Q13269|Q14343|Q14345|Q5SSW7|Q99635|Q99637|Q9H3V9|Q9H3W1|Q9NPL0	Silent	SNP	ENST00000375203.3	37	c.474C>G	CCDS4737.1																																																																																				0.547	ATF6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076638.2			10	20	0	0	0	1	0	10	20				
CKMT1A	548596	broad.mit.edu	37	15	43990947	43990947	+	Nonsense_Mutation	SNP	C	C	T	rs150214356		TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr15:43990947C>T	ENST00000413453.2	+	8	1644	c.1120C>T	c.(1120-1122)Cga>Tga	p.R374*	STRC_ENST00000541030.1_Intron|CKMT1A_ENST00000434505.1_Nonsense_Mutation_p.R374*			P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1A	374	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			lung(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	TAATTTGGACCGACTAGGCAA	0.502																																						ENST00000413453.2																			0				lung(4)	4						c.(1120-1122)Cga>Tga		creatine kinase, mitochondrial 1A	Creatine(DB00148)	C	stop/ARG	0,4398		0,0,2199	95.0	89.0	91.0		1120	3.9	1.0	15	dbSNP_134	91	1,8593	1.2+/-3.3	0,1,4296	no	stop-gained	CKMT1A	NM_001015001.1		0,1,6495	TT,TC,CC		0.0116,0.0,0.0077		374/418	43990947	1,12991	2199	4297	6496	SO:0001587	stop_gained	548596				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity	g.chr15:43990947C>T	BC001926, BC006467	CCDS32217.1	15q15	2005-08-09			ENSG00000223572	ENSG00000223572	2.7.3.2		31736	protein-coding gene	gene with protein product		613415	"""creatine kinase, mitochondrial 1 (ubiquitous)"""	CKMT1			Standard	XM_005254498		Approved		uc001zsn.3	P12532	OTTHUMG00000059898	ENST00000413453.2:c.1120C>T	15.37:g.43990947C>T	ENSP00000406577:p.Arg374*					CKMT1A_ENST00000434505.1_Nonsense_Mutation_p.R374*|STRC_ENST00000541030.1_Intron	p.R374*			P12532	KCRU_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	8	1644	+		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	374			Phosphagen kinase C-terminal.		B4DIT8|B7ZA09|Q0VAM3|Q32NF6|Q53FC4	Nonsense_Mutation	SNP	ENST00000413453.2	37	c.1120C>T	CCDS32217.1	.	.	.	.	.	.	.	.	.	.	C	38	7.152126	0.98099	0.0	1.16E-4	ENSG00000223572	ENST00000424065;ENST00000434505;ENST00000413453	.	.	.	3.93	3.93	0.45458	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.1461	15.9786	0.80089	0.0:1.0:0.0:0.0	.	.	.	.	X	405;374;374	.	ENSP00000406577:R374X	R	+	1	2	CKMT1A	41778239	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	4.698000	0.61789	1.728000	0.51552	0.502000	0.49764	CGA		0.502	CKMT1A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133136.1			19	64	0	0	0	1	0	19	64				
DOCK11	139818	broad.mit.edu	37	X	117739300	117739300	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chrX:117739300G>A	ENST00000276202.7	+	24	2725	c.2662G>A	c.(2662-2664)Gtt>Att	p.V888I	DOCK11_ENST00000276204.6_Missense_Mutation_p.V888I	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	888					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.V888I(1)		breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TGAAGATGACGTTCCTATCAA	0.348																																						ENST00000276204.6																			1	Substitution - Missense(1)	p.V888I(1)	large_intestine(1)	breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						c.(2662-2664)Gtt>Att		dedicator of cytokinesis 11							139.0	121.0	127.0					X																	117739300		2203	4300	6503	SO:0001583	missense	139818				blood coagulation	cytosol	GTP binding	g.chrX:117739300G>A	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.2662G>A	X.37:g.117739300G>A	ENSP00000276202:p.Val888Ile					DOCK11_ENST00000276202.7_Missense_Mutation_p.V888I	p.V888I			Q5JSL3	DOC11_HUMAN			24	2736	+			888					A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	c.2662G>A	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	G	11.09	1.535761	0.27475	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.69806	-0.43;-0.43	5.43	5.43	0.79202	.	0.119735	0.56097	D	0.000022	T	0.47358	0.1441	N	0.25060	0.705	0.47374	D	0.999409	P;P	0.40266	0.71;0.71	B;B	0.28385	0.089;0.089	T	0.49643	-0.8918	10	0.13470	T	0.59	-7.932	17.4229	0.87519	0.0:0.0:1.0:0.0	.	888;888	A6NIW2;Q5JSL3	.;DOC11_HUMAN	I	888	ENSP00000276204:V888I;ENSP00000276202:V888I	ENSP00000276202:V888I	V	+	1	0	DOCK11	117623328	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	4.283000	0.58977	2.415000	0.81967	0.600000	0.82982	GTT		0.348	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		54	43	0	0	0	1	0	54	43				
SIPA1L1	26037	broad.mit.edu	37	14	72055540	72055540	+	Silent	SNP	A	A	G			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr14:72055540A>G	ENST00000555818.1	+	2	1299	c.951A>G	c.(949-951)cgA>cgG	p.R317R	SIPA1L1_ENST00000358550.2_Silent_p.R317R|SIPA1L1_ENST00000381232.3_Silent_p.R317R	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	317					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		AAGATAACCGATCAGAAGACT	0.413																																						ENST00000555818.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(949-951)cgA>cgG		signal-induced proliferation-associated 1 like 1							66.0	71.0	69.0					14																	72055540		2203	4300	6503	SO:0001819	synonymous_variant	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72055540A>G	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.951A>G	14.37:g.72055540A>G						SIPA1L1_ENST00000358550.2_Silent_p.R317R|SIPA1L1_ENST00000381232.3_Silent_p.R317R	p.R317R	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	2	1299	+			317					J3KP19|O95321|Q9UDU4|Q9UNU4	Silent	SNP	ENST00000555818.1	37	c.951A>G	CCDS9807.1																																																																																				0.413	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		18	59	0	0	0	1	0	18	59				
CROCCP2	84809	broad.mit.edu	37	1	16946434	16946434	+	lincRNA	SNP	C	C	T	rs367060	byFrequency	TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr1:16946434C>T	ENST00000412962.1	-	0	1085				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CTCAGCCTTCCGCCGGGCCAG	0.672													.|||	253	0.0505192	0.115	0.0533	5008	,	,		65734	0.0119		0.0437	False		,,,				2504	0.0082					ENST00000412962.1																			0																																																			0							g.chr1:16946434C>T	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946434C>T														0	1085	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		5	22	0	0	0	1	0	5	22				
ALOX12	239	broad.mit.edu	37	17	6913672	6913672	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr17:6913672G>A	ENST00000251535.6	+	14	1975	c.1922G>A	c.(1921-1923)cGg>cAg	p.R641Q	RNASEK_ENST00000552321.1_5'Flank|AC027763.2_ENST00000574377.1_Intron|AC027763.2_ENST00000573939.1_Intron|RP11-589P10.7_ENST00000572547.1_RNA|RNASEK_ENST00000402093.1_5'Flank|AC027763.2_ENST00000575727.1_Intron|RNASEK_ENST00000548577.1_5'Flank|AC027763.2_ENST00000399541.2_Intron|AC027763.2_ENST00000399540.2_Intron	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	641	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				aging (GO:0007568)|arachidonic acid metabolic process (GO:0019369)|cellular component movement (GO:0006928)|cellular response to lipid (GO:0071396)|establishment of skin barrier (GO:0061436)|fatty acid oxidation (GO:0019395)|hepoxilin biosynthetic process (GO:0051122)|hepoxilin metabolic process (GO:0051121)|leukotriene A4 metabolic process (GO:1901751)|linoleic acid metabolic process (GO:0043651)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxin B4 biosynthetic process (GO:2001306)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of gene expression (GO:0010628)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|superoxide anion generation (GO:0042554)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcolemma (GO:0042383)	arachidonate 12-lipoxygenase activity (GO:0004052)|hepoxilin A3 synthase activity (GO:0051120)|hepoxilin-epoxide hydrolase activity (GO:0047977)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						ATTACAGCCCGGAATGAGCAA	0.473																																						ENST00000251535.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						c.(1921-1923)cGg>cAg		arachidonate 12-lipoxygenase							77.0	80.0	79.0					17																	6913672		2203	4300	6503	SO:0001583	missense	239				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding	g.chr17:6913672G>A	M35418	CCDS11084.1	17p13.1	2010-01-14			ENSG00000108839	ENSG00000108839	1.13.11.31	"""Arachidonate lipoxygenases"""	429	protein-coding gene	gene with protein product	"""platelet 12-LOX"""	152391				1570320	Standard	NM_000697		Approved	12S-LOX	uc002gdx.4	P18054	OTTHUMG00000102088	ENST00000251535.6:c.1922G>A	17.37:g.6913672G>A	ENSP00000251535:p.Arg641Gln					AC027763.2_ENST00000574377.1_Intron|AC027763.2_ENST00000399540.2_Intron|AC027763.2_ENST00000399541.2_Intron|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000573939.1_Intron	p.R641Q	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN			14	1975	+			641			Lipoxygenase.		O95569|Q6ISF8|Q9UQM4	Missense_Mutation	SNP	ENST00000251535.6	37	c.1922G>A	CCDS11084.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.000336	0.54147	.	.	ENSG00000108839	ENST00000251535;ENST00000406228	T	0.81078	-1.45	4.86	4.86	0.63082	Lipoxygenase, C-terminal (3);	0.075147	0.56097	D	0.000034	D	0.83330	0.5231	M	0.86028	2.79	0.37255	D	0.906733	D	0.58268	0.982	B	0.43445	0.42	D	0.88974	0.3403	10	0.62326	D	0.03	-3.1857	15.5355	0.75998	0.0:0.0:1.0:0.0	.	641	P18054	LOX12_HUMAN	Q	641;111	ENSP00000251535:R641Q	ENSP00000251535:R641Q	R	+	2	0	ALOX12	6854396	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	4.257000	0.58816	2.540000	0.85666	0.460000	0.39030	CGG		0.473	ALOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219922.2			9	64	0	0	0	1	0	9	64				
ANKRD30B	374860	broad.mit.edu	37	18	14791432	14791432	+	Silent	SNP	G	G	C			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr18:14791432G>C	ENST00000358984.4	+	16	1947	c.1767G>C	c.(1765-1767)gtG>gtC	p.V589V	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Silent_p.V589V	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	589										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AGAAGGATGTGTATTTACCCA	0.284																																						ENST00000358984.4																			0				breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						c.(1765-1767)gtG>gtC		ankyrin repeat domain 30B							81.0	62.0	68.0					18																	14791432		692	1583	2275	SO:0001819	synonymous_variant	374860							g.chr18:14791432G>C	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.1767G>C	18.37:g.14791432G>C						ANKRD30B_ENST00000447268.2_Silent_p.V589V|ANKRD30B_ENST00000579292.1_Intron	p.V589V	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN			16	1947	+			589					B4DGP1|F8WAG3|Q4G175	Silent	SNP	ENST00000358984.4	37	c.1767G>C	CCDS54182.1																																																																																				0.284	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		16	50	0	0	0	1	0	16	50				
ADAM2	2515	broad.mit.edu	37	8	39645770	39645770	+	Splice_Site	SNP	T	T	C			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr8:39645770T>C	ENST00000265708.4	-	9	746	c.643A>G	c.(643-645)Att>Gtt	p.I215V	ADAM2_ENST00000347580.4_Splice_Site_p.I196V|ADAM2_ENST00000379853.2_Intron|ADAM2_ENST00000521880.1_Splice_Site_p.I215V	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	215	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		GAAACAAAAATCTAAAATAGA	0.239																																						ENST00000265708.4																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53						c.e9-1		ADAM metallopeptidase domain 2							37.0	40.0	39.0					8																	39645770		2162	4265	6427	SO:0001630	splice_region_variant	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39645770T>C	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.643-1A>G	8.37:g.39645770T>C						ADAM2_ENST00000347580.4_Splice_Site_p.I196_splice|ADAM2_ENST00000379853.2_Intron|ADAM2_ENST00000521880.1_Splice_Site_p.I215_splice	p.I215_splice	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	9	746	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	215			Peptidase M12B.		P78326|Q9UQQ8	Splice_Site	SNP	ENST00000265708.4	37	c.642_splice	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	T	6.933	0.541786	0.13250	.	.	ENSG00000104755	ENST00000347580;ENST00000265708;ENST00000521880	T;T;T	0.65364	-0.15;-0.15;-0.15	4.71	2.2	0.27929	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	.	.	.	.	T	0.50326	0.1609	L	0.47016	1.485	0.27682	N	0.946416	B;B;B	0.20671	0.022;0.038;0.047	B;B;B	0.28011	0.05;0.051;0.085	T	0.42582	-0.9443	8	.	.	.	.	3.3452	0.07132	0.1976:0.1202:0.0:0.6822	.	215;196;215	B4DWY7;Q99965-2;Q99965	.;.;ADAM2_HUMAN	V	196;215;215	ENSP00000343854:I196V;ENSP00000265708:I215V;ENSP00000429352:I215V	.	I	-	1	0	ADAM2	39764927	1.000000	0.71417	0.982000	0.44146	0.580000	0.36256	0.926000	0.28804	0.227000	0.20999	0.377000	0.23210	ATT		0.239	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464	Missense_Mutation	20	70	0	0	0	1	0	20	70				
UGT2A1	10941	broad.mit.edu	37	4	70460268	70460268	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr4:70460268C>A	ENST00000503640.1	-	5	1286	c.1231G>T	c.(1231-1233)Gtg>Ttg	p.V411L	UGT2A1_ENST00000514019.1_Missense_Mutation_p.V577L|UGT2A1_ENST00000286604.4_Missense_Mutation_p.V411L|UGT2A2_ENST00000457664.2_Missense_Mutation_p.V420L|UGT2A1_ENST00000512704.1_Missense_Mutation_p.V367L|UGT2A1_ENST00000502343.1_5'UTR	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	411					cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TTCACTTCCACAGCTGCTCCT	0.443																																						ENST00000503640.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						c.(1231-1233)Gtg>Ttg		UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus							166.0	143.0	151.0					4																	70460268		2203	4300	6503	SO:0001583	missense	10941				detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity	g.chr4:70460268C>A	AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"""UDP glucuronosyltransferases"""	12542	protein-coding gene	gene with protein product		604716	"""UDP glycosyltransferase 2 family, polypeptide A1"", ""UDP glucuronosyltransferase 2 family, polypeptide A1"""			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.1231G>T	4.37:g.70460268C>A	ENSP00000424478:p.Val411Leu					UGT2A1_ENST00000502343.1_5'UTR|UGT2A2_ENST00000457664.2_Missense_Mutation_p.V420L|UGT2A1_ENST00000512704.1_Missense_Mutation_p.V367L|UGT2A1_ENST00000286604.4_Missense_Mutation_p.V411L|UGT2A1_ENST00000514019.1_Missense_Mutation_p.V577L	p.V411L	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN			5	1286	-			411					B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Missense_Mutation	SNP	ENST00000503640.1	37	c.1231G>T	CCDS3529.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.636658	0.47049	.	.	ENSG00000173610	ENST00000457664;ENST00000503640;ENST00000512704;ENST00000514019;ENST00000286604	T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01	4.53	4.53	0.55603	.	0.283842	0.32655	N	0.005804	T	0.69513	0.3119	L	0.46885	1.475	.	.	.	B;B;B;D;D	0.60160	0.082;0.302;0.104;0.984;0.987	B;B;B;D;D	0.75484	0.062;0.168;0.086;0.966;0.986	T	0.75869	-0.3165	9	0.51188	T	0.08	.	8.7224	0.34449	0.0:0.8983:0.0:0.1017	.	577;577;367;420;411	E9PDM7;B4E2F4;D6RFW5;Q9Y4X1-2;Q9Y4X1	.;.;.;.;UD2A1_HUMAN	L	420;411;367;577;411	ENSP00000387888:V420L;ENSP00000424478:V411L;ENSP00000421432:V367L;ENSP00000425497:V577L;ENSP00000286604:V411L	ENSP00000286604:V411L	V	-	1	0	UGT2A1	70494857	0.136000	0.22515	1.000000	0.80357	0.895000	0.52256	0.527000	0.22987	2.512000	0.84698	0.644000	0.83932	GTG		0.443	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798		20	112	1	0	7.21436e-19	1	7.75275e-19	20	112				
TRBV20-1	28567	broad.mit.edu	37	7	142334679	142334679	+	RNA	SNP	A	A	C			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr7:142334679A>C	ENST00000390394.3	+	0	179									T cell receptor beta variable 20-1																		ACCTCTGTGAAGATCGAGTGC	0.527											OREG0018395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000390394.3																			0																				91.0	95.0	93.0					7																	142334679		1977	4154	6131			0							g.chr7:142334679A>C	M11955		7q34	2012-02-07			ENSG00000211747	ENSG00000211747		"""T cell receptors / TRB locus"""	12196	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV201, TCRBV20S1, TCRBV2S1			OTTHUMG00000158899		7.37:g.142334679A>C			OREG0018395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1670									0	179	+									RNA	SNP	ENST00000390394.3	37																																																																																						0.527	TRBV20-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352511.2	NG_001333		4	146	0	0	0	1	0	4	146				
LRRC7	57554	broad.mit.edu	37	1	70488940	70488940	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr1:70488940G>T	ENST00000035383.5	+	15	1593	c.1563G>T	c.(1561-1563)caG>caT	p.Q521H	RP11-181B18.1_ENST00000425754.1_RNA|LRRC7_ENST00000310961.5_Missense_Mutation_p.Q526H|RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000415775.2_Intron	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	521						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CCGTCCCCCAGAATGACCCAC	0.562																																						ENST00000310961.5																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(1576-1578)caG>caT		leucine rich repeat containing 7							95.0	88.0	90.0					1																	70488940		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70488940G>T		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.1563G>T	1.37:g.70488940G>T	ENSP00000035383:p.Gln521His					RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000035383.5_Missense_Mutation_p.Q521H|LRRC7_ENST00000415775.2_Intron	p.Q526H			Q96NW7	LRRC7_HUMAN			18	1996	+			521					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.1578G>T	CCDS645.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.314070	0.40996	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.37752	1.18;1.25	5.86	5.86	0.93980	.	0.301525	0.29355	N	0.012400	T	0.10078	0.0247	N	0.08118	0	0.80722	D	1	P	0.36438	0.553	B	0.28784	0.094	T	0.07731	-1.0757	10	0.37606	T	0.19	.	15.6849	0.77402	0.0:0.0:1.0:0.0	.	521	Q96NW7	LRRC7_HUMAN	H	526;521;344	ENSP00000309245:Q526H;ENSP00000035383:Q521H	ENSP00000035383:Q521H	Q	+	3	2	LRRC7	70261528	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.453000	0.60061	2.775000	0.95449	0.585000	0.79938	CAG		0.562	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		19	60	1	0	1.01871e-10	1	1.063e-10	19	60				
NCF1B	654816	broad.mit.edu	37	7	72639953	72639953	+	RNA	SNP	G	G	A	rs201604882		TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr7:72639953G>A	ENST00000423083.1	+	0	158					NR_003186.1		A6NI72	NCF1B_HUMAN	neutrophil cytosolic factor 1B pseudogene							cytoplasm (GO:0005737)	phosphatidylinositol binding (GO:0035091)|superoxide-generating NADPH oxidase activity (GO:0016175)										GCGGGCCGCCGAGAACCACCA	0.637																																						ENST00000423083.1																			0																																																			0							g.chr7:72639953G>A			7q11.23	2014-03-20	2006-09-19		ENSG00000182487	ENSG00000182487			32522	pseudogene	pseudogene			"""neutrophil cytosolic factor 1B"""				Standard	NR_003186		Approved	SH3PXD1B	uc011ker.1	A6NI72	OTTHUMG00000156804		7.37:g.72639953G>A								NR_003186.1						0	158	+									RNA	SNP	ENST00000423083.1	37																																																																																						0.637	NCF1B-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345924.1	NR_003186		13	37	0	0	0	1	0	13	37				
LTBP1	4052	broad.mit.edu	37	2	33412100	33412100	+	Nonsense_Mutation	SNP	C	C	G			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr2:33412100C>G	ENST00000404816.2	+	6	1732	c.1379C>G	c.(1378-1380)tCa>tGa	p.S460*	LTBP1_ENST00000418533.2_Nonsense_Mutation_p.S134*|LTBP1_ENST00000390003.4_Nonsense_Mutation_p.S134*|LTBP1_ENST00000404525.1_Nonsense_Mutation_p.S134*|LTBP1_ENST00000402934.1_Nonsense_Mutation_p.S134*|LTBP1_ENST00000354476.3_Nonsense_Mutation_p.S460*|LTBP1_ENST00000407925.1_Nonsense_Mutation_p.S134*			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	460					extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GTCATCCATTCAACACATACC	0.512																																						ENST00000404816.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108						c.(1378-1380)tCa>tGa		latent transforming growth factor beta binding protein 1							104.0	88.0	93.0					2																	33412100		2203	4300	6503	SO:0001587	stop_gained	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33412100C>G		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.1379C>G	2.37:g.33412100C>G	ENSP00000386043:p.Ser460*					LTBP1_ENST00000418533.2_Nonsense_Mutation_p.S134*|LTBP1_ENST00000404525.1_Nonsense_Mutation_p.S134*|LTBP1_ENST00000402934.1_Nonsense_Mutation_p.S134*|LTBP1_ENST00000407925.1_Nonsense_Mutation_p.S134*|LTBP1_ENST00000354476.3_Nonsense_Mutation_p.S460*|LTBP1_ENST00000390003.4_Nonsense_Mutation_p.S134*	p.S460*			Q14766	LTBP1_HUMAN			6	1732	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	460					A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Nonsense_Mutation	SNP	ENST00000404816.2	37	c.1379C>G	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	C	29.9	5.047482	0.93740	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000432635;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.1993	0.93704	0.0:1.0:0.0:0.0	.	.	.	.	X	460;460;149;134;134;134;134;134	.	ENSP00000346467:S460X	S	+	2	0	LTBP1	33265604	1.000000	0.71417	0.950000	0.38849	0.647000	0.38526	7.191000	0.77763	2.526000	0.85167	0.655000	0.94253	TCA		0.512	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		10	46	0	0	0	1	0	10	46				
FRG1B	284802	broad.mit.edu	37	20	29628251	29628251	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr20:29628251A>G	ENST00000278882.3	+	6	633	c.253A>G	c.(253-255)Aat>Gat	p.N85D	FRG1B_ENST00000439954.2_Missense_Mutation_p.N90D|FRG1B_ENST00000358464.4_Missense_Mutation_p.N85D			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	85								p.N85D(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTTGGCCTCAAATAGCTGCTT	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.N85D(2)	kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(253-255)Aat>Gat																																						SO:0001583	missense	0							g.chr20:29628251A>G			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.253A>G	20.37:g.29628251A>G	ENSP00000278882:p.Asn85Asp					FRG1B_ENST00000439954.2_Missense_Mutation_p.N90D|FRG1B_ENST00000358464.4_Missense_Mutation_p.N85D	p.N85D							6	633	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.253A>G		.	.	.	.	.	.	.	.	.	.	a	15.78	2.933773	0.52866	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50277	0.75	2.08	2.08	0.27032	Actin cross-linking (1);	0.000000	0.85682	D	0.000000	T	0.46619	0.1402	.	.	.	0.45390	D	0.998378	B;B	0.26809	0.086;0.16	B;B	0.40329	0.326;0.253	T	0.51553	-0.8691	9	0.66056	D	0.02	.	8.0833	0.30758	1.0:0.0:0.0:0.0	.	90;85	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	D	85;90;85	ENSP00000408863:N90D	ENSP00000278882:N85D	N	+	1	0	FRG1B	28241912	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	8.047000	0.89440	1.208000	0.43306	0.347000	0.21830	AAT		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		10	174	0	0	0	1	0	10	174				
KIAA1109	84162	broad.mit.edu	37	4	123151111	123151111	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr4:123151111G>A	ENST00000264501.4	+	26	3441	c.3068G>A	c.(3067-3069)tGt>tAt	p.C1023Y	KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000455637.1_Missense_Mutation_p.C1023Y|KIAA1109_ENST00000388738.3_Missense_Mutation_p.C1023Y			Q2LD37	K1109_HUMAN	KIAA1109	1023					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GTTGCAAACTGTAATCTCCAC	0.343																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(3067-3069)tGt>tAt		KIAA1109							57.0	52.0	54.0					4																	123151111		1839	4092	5931	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123151111G>A	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.3068G>A	4.37:g.123151111G>A	ENSP00000264501:p.Cys1023Tyr					KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000388738.3_Missense_Mutation_p.C1023Y|KIAA1109_ENST00000455637.1_Missense_Mutation_p.C1023Y	p.C1023Y			Q2LD37	K1109_HUMAN			26	3441	+			1023					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.3068G>A	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.565673	0.86439	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637	T;T;T	0.66995	0.33;0.33;-0.24	5.59	5.59	0.84812	.	1.213970	0.06271	U	0.695629	D	0.85039	0.5606	M	0.73962	2.25	0.80722	D	1	D	0.65815	0.995	D	0.75484	0.986	T	0.77125	-0.2703	10	0.87932	D	0	.	19.5871	0.95493	0.0:0.0:1.0:0.0	.	1023	Q2LD37	K1109_HUMAN	Y	1023	ENSP00000264501:C1023Y;ENSP00000373390:C1023Y;ENSP00000389925:C1023Y	ENSP00000264501:C1023Y	C	+	2	0	KIAA1109	123370561	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.389000	0.97243	2.612000	0.88384	0.650000	0.86243	TGT		0.343	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		13	49	0	0	0	1	0	13	49				
HMGCLL1	54511	broad.mit.edu	37	6	55406633	55406633	+	Splice_Site	SNP	A	A	G			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr6:55406633A>G	ENST00000398661.2	-	4	412	c.281T>C	c.(280-282)gTt>gCt	p.V94A	HMGCLL1_ENST00000428842.1_Splice_Site_p.V64A|HMGCLL1_ENST00000508459.1_Splice_Site_p.V64A|HMGCLL1_ENST00000308161.4_Splice_Site_p.V64A|HMGCLL1_ENST00000370850.2_Splice_Site_p.V64A|HMGCLL1_ENST00000274901.4_Splice_Site_p.V64A	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	94					ketone body biosynthetic process (GO:0046951)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	hydroxymethylglutaryl-CoA lyase activity (GO:0004419)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			AGGAACTATAACCTATGAAAA	0.294																																					Ovarian(35;840 893 7837 15538 42887)	ENST00000398661.2																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						c.e4-1		3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1							57.0	53.0	54.0					6																	55406633		1780	4058	5838	SO:0001630	splice_region_variant	54511						hydroxymethylglutaryl-CoA lyase activity|metal ion binding	g.chr6:55406633A>G	AK055075	CCDS43474.1, CCDS43475.1, CCDS75472.1, CCDS75473.1	6p12.1	2010-04-30	2010-04-30		ENSG00000146151	ENSG00000146151			21359	protein-coding gene	gene with protein product			"""3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase-like 1"""			8619474, 9110174	Standard	NM_001042406		Approved	DKFZP434G1411, bA418P12.1	uc003pcn.3	Q8TB92	OTTHUMG00000014902	ENST00000398661.2:c.280-1T>C	6.37:g.55406633A>G						HMGCLL1_ENST00000308161.4_Splice_Site_p.V64_splice|HMGCLL1_ENST00000428842.1_Splice_Site_p.V64_splice|HMGCLL1_ENST00000370850.2_Splice_Site_p.V64_splice|HMGCLL1_ENST00000508459.1_Splice_Site_p.V64_splice|HMGCLL1_ENST00000274901.4_Splice_Site_p.V64_splice	p.V94_splice	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		4	412	-	Lung NSC(77;0.0875)		94					B1AQ42|B3KNV0|B7Z1S7|F8W793|Q6ZSA9	Splice_Site	SNP	ENST00000398661.2	37	c.279_splice	CCDS43475.1	.	.	.	.	.	.	.	.	.	.	A	3.183	-0.167517	0.06461	.	.	ENSG00000146151	ENST00000274901;ENST00000398661;ENST00000370850;ENST00000508459;ENST00000308161;ENST00000428842	D;D;D;D;D;D	0.98249	-4.82;-4.82;-4.3;-4.56;-4.82;-4.56	5.75	3.39	0.38822	Aldolase-type TIM barrel (1);Pyruvate carboxyltransferase (2);	0.110569	0.64402	D	0.000014	T	0.82240	0.4994	N	0.03154	-0.405	0.31368	N	0.680552	B;B;B;B;B;B	0.28584	0.145;0.216;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.26416	0.069;0.042;0.002;0.003;0.002;0.006	T	0.76756	-0.2842	10	0.07325	T	0.83	-5.7371	4.3552	0.11174	0.6512:0.0:0.2109:0.1379	.	64;64;64;64;64;94	B7Z4D4;B7Z212;F8W793;G5E9S9;Q8TB92-2;Q8TB92	.;.;.;.;.;HMGC2_HUMAN	A	64;94;64;64;64;64	ENSP00000274901:V64A;ENSP00000381654:V94A;ENSP00000359887:V64A;ENSP00000424309:V64A;ENSP00000309737:V64A;ENSP00000412924:V64A	ENSP00000274901:V64A	V	-	2	0	HMGCLL1	55514592	0.992000	0.36948	0.999000	0.59377	0.946000	0.59487	1.994000	0.40757	0.999000	0.39023	0.533000	0.62120	GTT		0.294	HMGCLL1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360290.1	XM_166383	Missense_Mutation	26	89	0	0	0	1	0	26	89				
NAA25	80018	broad.mit.edu	37	12	112499080	112499080	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr12:112499080G>A	ENST00000261745.4	-	12	1510	c.1262C>T	c.(1261-1263)aCg>aTg	p.T421M	RP1-267L14.3_ENST00000551125.1_RNA	NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	421						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						AAGTAACCTCGTCAGCTGCAC	0.463																																						ENST00000261745.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						c.(1261-1263)aCg>aTg		N(alpha)-acetyltransferase 25, NatB auxiliary subunit							115.0	100.0	106.0					12																	112499080		2203	4300	6503	SO:0001583	missense	80018					cytoplasm	protein binding	g.chr12:112499080G>A	AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.1262C>T	12.37:g.112499080G>A	ENSP00000261745:p.Thr421Met						p.T421M	NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN			12	1510	-			421					A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Missense_Mutation	SNP	ENST00000261745.4	37	c.1262C>T	CCDS9159.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.239601	0.39598	.	.	ENSG00000111300	ENST00000261745	T	0.44482	0.92	5.84	4.01	0.46588	.	0.240505	0.43919	D	0.000515	T	0.21307	0.0513	N	0.08118	0	0.36735	D	0.881901	B;B	0.24576	0.106;0.106	B;B	0.14023	0.01;0.01	T	0.14227	-1.0480	10	0.33940	T	0.23	-5.1058	10.179	0.42957	0.2044:0.0:0.7956:0.0	.	421;421	A8K8X0;Q14CX7	.;NAA25_HUMAN	M	421	ENSP00000261745:T421M	ENSP00000261745:T421M	T	-	2	0	NAA25	110983463	1.000000	0.71417	0.948000	0.38648	0.997000	0.91878	3.551000	0.53698	1.486000	0.48398	0.650000	0.86243	ACG		0.463	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	NM_024953		7	35	0	0	0	1	0	7	35				
FRG1B	284802	broad.mit.edu	37	20	29628263	29628263	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr20:29628263A>G	ENST00000278882.3	+	6	645	c.265A>G	c.(265-267)Att>Gtt	p.I89V	FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V|FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	89								p.I89V(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAGCTGCTTTATTAGATGCAA	0.363																																						ENST00000278882.3																			4	Substitution - Missense(4)	p.I89V(4)	prostate(2)|kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(265-267)Att>Gtt																																						SO:0001583	missense	0							g.chr20:29628263A>G			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.265A>G	20.37:g.29628263A>G	ENSP00000278882:p.Ile89Val					FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V|FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V	p.I89V							6	645	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.265A>G		.	.	.	.	.	.	.	.	.	.	a	8.196	0.797144	0.16327	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.44482	0.92	2.08	2.08	0.27032	Actin cross-linking (1);	0.052017	0.85682	D	0.000000	T	0.22666	0.0547	.	.	.	0.33862	D	0.633895	B;B	0.06786	0.0;0.001	B;B	0.20767	0.018;0.031	T	0.12041	-1.0563	9	0.22706	T	0.39	.	3.8663	0.09018	0.8139:0.0:0.1861:0.0	.	94;89	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	V	89;94;89	ENSP00000408863:I94V	ENSP00000278882:I89V	I	+	1	0	FRG1B	28241924	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.345000	0.59360	1.208000	0.43306	0.347000	0.21830	ATT		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	163	0	0	0	1	0	4	163				
MYO5C	55930	broad.mit.edu	37	15	52532038	52532038	+	Silent	SNP	G	G	A			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr15:52532038G>A	ENST00000261839.7	-	21	2756	c.2595C>T	c.(2593-2595)taC>taT	p.Y865Y	MYO5C_ENST00000443683.2_Intron	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	865	IQ 5. {ECO:0000255|PROSITE- ProRule:PRU00116}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		ACGCCCGTGCGTATTTCTGTA	0.453																																						ENST00000261839.7																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(2593-2595)taC>taT		myosin VC							60.0	59.0	60.0					15																	52532038		1958	4155	6113	SO:0001819	synonymous_variant	55930					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr15:52532038G>A	AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"""Myosins / Myosin superfamily : Class V"""	7604	protein-coding gene	gene with protein product	"""myosin 5C"""	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.2595C>T	15.37:g.52532038G>A						MYO5C_ENST00000443683.2_Intron	p.Y865Y	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN		all cancers(107;0.0137)	21	2756	-			865			IQ 5.		Q6P1W8	Silent	SNP	ENST00000261839.7	37	c.2595C>T	CCDS42036.1																																																																																				0.453	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728		27	63	0	0	0	1	0	27	63				
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	lincRNA	SNP	A	A	G	rs201023195		TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr1:142713774A>G	ENST00000610091.1	-	0	1884																											CTTTTTCCACATTGTCATTTT	0.284																																						ENST00000369381.2																			0																																																			0							g.chr1:142713774A>G																													1.37:g.142713774A>G														0	831	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			5	126	0	0	0	1	0	5	126				
CSN3	1448	broad.mit.edu	37	4	71114860	71114860	+	Missense_Mutation	SNP	G	G	A	rs577013157		TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr4:71114860G>A	ENST00000304954.3	+	4	319	c.233G>A	c.(232-234)cGc>cAc	p.R78H		NM_005212.2	NP_005203.2	Q9UNS2	CSN3_HUMAN	casein kappa	0					cullin deneddylation (GO:0010388)|in utero embryonic development (GO:0001701)|response to light stimulus (GO:0009416)|signal transduction (GO:0007165)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						TATGTGCCTCGCACATATTAT	0.448													G|||	1	0.000199681	0.0	0.0	5008	,	,		16819	0.0		0.0	False		,,,				2504	0.001					ENST00000304954.3																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(232-234)cGc>cAc		casein kappa							120.0	110.0	113.0					4																	71114860		2203	4300	6503	SO:0001583	missense	1448					extracellular region	protein binding	g.chr4:71114860G>A	U51899	CCDS3538.1	4q21.1	2014-02-19	2003-01-24	2003-01-31	ENSG00000171209	ENSG00000171209			2446	protein-coding gene	gene with protein product		601695	"""casein, kappa"""	CSN10		8863730, 9050925	Standard	NM_005212		Approved		uc003hfe.4	P07498	OTTHUMG00000129399	ENST00000304954.3:c.233G>A	4.37:g.71114860G>A	ENSP00000304822:p.Arg78His						p.R78H	NM_005212.2	NP_005203.2	P07498	CASK_HUMAN			4	319	+			78					B2R683|B4DY81|O43191|Q7LDR6	Missense_Mutation	SNP	ENST00000304954.3	37	c.233G>A	CCDS3538.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.654703	0.47467	.	.	ENSG00000171209	ENST00000304954	T	0.21543	2.0	4.38	-5.39	0.02664	.	1.499990	0.03679	N	0.245165	T	0.09949	0.0244	N	0.14661	0.345	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.22034	-1.0228	10	0.44086	T	0.13	-3.3053	1.7952	0.03059	0.4336:0.1242:0.0848:0.3574	.	78	P07498	CASK_HUMAN	H	78	ENSP00000304822:R78H	ENSP00000304822:R78H	R	+	2	0	CSN3	71149449	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.207000	0.09384	-0.883000	0.03982	-1.375000	0.01183	CGC		0.448	CSN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251555.1	NM_005212		16	43	0	0	0	1	0	16	43				
EPM2AIP1	9852	broad.mit.edu	37	3	37032873	37032873	+	Nonsense_Mutation	SNP	G	G	A	rs370683042		TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr3:37032873G>A	ENST00000322716.5	-	1	1922	c.1696C>T	c.(1696-1698)Cga>Tga	p.R566*	MLH1_ENST00000231790.2_5'Flank|MLH1_ENST00000455445.2_5'Flank|MLH1_ENST00000458205.2_5'Flank|MLH1_ENST00000536378.1_5'Flank|MLH1_ENST00000539477.1_5'Flank|MLH1_ENST00000435176.1_5'Flank	NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	566					positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|response to insulin (GO:0032868)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						TGTTGGTTTCGAGTCAAATAT	0.453																																						ENST00000322716.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						c.(1696-1698)Cga>Tga		EPM2A (laforin) interacting protein 1		G	stop/ARG	0,3774		0,0,1887	74.0	72.0	73.0		1696	1.5	1.0	3		73	1,8235		0,1,4117	no	stop-gained	EPM2AIP1	NM_014805.3		0,1,6004	AA,AG,GG		0.0121,0.0,0.0083		566/608	37032873	1,12009	1887	4118	6005	SO:0001587	stop_gained	9852					endoplasmic reticulum		g.chr3:37032873G>A	AB018309	CCDS46790.1	3p22.1	2003-03-26							19735	protein-coding gene	gene with protein product		607911					Standard	NM_014805		Approved	KIAA0766, FLJ11207	uc003cgk.3	Q7L775		ENST00000322716.5:c.1696C>T	3.37:g.37032873G>A	ENSP00000406027:p.Arg566*						p.R566*	NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN			1	1922	-			566					O94866|Q9H3L3	Nonsense_Mutation	SNP	ENST00000322716.5	37	c.1696C>T	CCDS46790.1	.	.	.	.	.	.	.	.	.	.	G	37	6.597560	0.97692	0.0	1.21E-4	ENSG00000178567	ENST00000322716	.	.	.	4.66	1.53	0.23141	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999993	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-16.2379	11.6709	0.51401	0.0:0.0:0.575:0.425	.	.	.	.	X	566	.	ENSP00000406027:R566X	R	-	1	2	EPM2AIP1	37007877	0.783000	0.28701	0.981000	0.43875	0.986000	0.74619	1.130000	0.31393	0.481000	0.27557	0.655000	0.94253	CGA		0.453	EPM2AIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470593.1	NM_014805		26	69	0	0	0	1	0	26	69				
PCM1	5108	broad.mit.edu	37	8	17823519	17823519	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr8:17823519A>G	ENST00000519253.1	+	19	3118	c.2867A>G	c.(2866-2868)aAt>aGt	p.N956S	PCM1_ENST00000325083.8_Missense_Mutation_p.N956S|PCM1_ENST00000524226.1_Missense_Mutation_p.N957S			Q15154	PCM1_HUMAN	pericentriolar material 1	956					centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		TGGAAGAACAATTGCCCTTTT	0.388			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""																																	ENST00000325083.8				Dom	yes		8	8p22-p21.3	5108	T	pericentriolar material 1  (PTC4)			"""E, L"""	"""RET, JAK2"""		"""papillary thyroid, CML, MPD"""	PCM1/JAK2(30)	0				breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48						c.(2866-2868)aAt>aGt		pericentriolar material 1							77.0	72.0	74.0					8																	17823519		1887	4115	6002	SO:0001583	missense	5108				centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding	g.chr8:17823519A>G		CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.2867A>G	8.37:g.17823519A>G	ENSP00000431099:p.Asn956Ser					PCM1_ENST00000524226.1_Missense_Mutation_p.N957S|PCM1_ENST00000519253.1_Missense_Mutation_p.N956S	p.N956S	NM_006197.3	NP_006188.3	Q15154	PCM1_HUMAN		Colorectal(111;0.0789)	19	3306	+			956					Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Missense_Mutation	SNP	ENST00000519253.1	37	c.2867A>G		.	.	.	.	.	.	.	.	.	.	A	11.08	1.534229	0.27475	.	.	ENSG00000078674	ENST00000325083;ENST00000519253;ENST00000524226	T;T;T	0.18016	2.24;2.24;2.24	5.85	-2.66	0.06077	.	0.623386	0.19571	N	0.111093	T	0.05456	0.0144	N	0.04508	-0.205	0.22947	N	0.998529	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.42632	-0.9440	10	0.08599	T	0.76	-3.6565	9.4921	0.38967	0.3468:0.121:0.5322:0.0	.	956;957;956	E7ETA6;E7EV56;Q15154	.;.;PCM1_HUMAN	S	956;956;957	ENSP00000327077:N956S;ENSP00000431099:N956S;ENSP00000430521:N957S	ENSP00000327077:N956S	N	+	2	0	PCM1	17867799	0.025000	0.19082	0.978000	0.43139	0.957000	0.61999	-0.038000	0.12144	-0.258000	0.09446	-0.250000	0.11733	AAT		0.388	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	NM_006197		6	30	0	0	0	1	0	6	30				
RRBP1	6238	broad.mit.edu	37	20	17602584	17602584	+	Silent	SNP	C	C	T			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr20:17602584C>T	ENST00000377813.1	-	14	3459	c.3156G>A	c.(3154-3156)tcG>tcA	p.S1052S	RRBP1_ENST00000360807.4_Silent_p.S619S|RRBP1_ENST00000470422.1_5'UTR|RRBP1_ENST00000246043.4_Silent_p.S1052S|RRBP1_ENST00000377807.2_Silent_p.S619S|RRBP1_ENST00000455029.2_Silent_p.S393S			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	1052					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						GCTGCTTCTCCGATTCCTCCT	0.617																																						ENST00000377813.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						c.(3154-3156)tcG>tcA		ribosome binding protein 1							53.0	59.0	57.0					20																	17602584		2203	4300	6503	SO:0001819	synonymous_variant	6238				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity	g.chr20:17602584C>T	AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"""ribosome binding protein 1 (dog 180kD homolog)"", ""ribosome binding protein 1 homolog 180kDa (dog)"""			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.3156G>A	20.37:g.17602584C>T						RRBP1_ENST00000360807.4_Silent_p.S619S|RRBP1_ENST00000246043.4_Silent_p.S1052S|RRBP1_ENST00000455029.2_Silent_p.S393S|RRBP1_ENST00000377807.2_Silent_p.S619S	p.S1052S			Q9P2E9	RRBP1_HUMAN			14	3459	-			1052					A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Silent	SNP	ENST00000377813.1	37	c.3156G>A																																																																																					0.617	RRBP1-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000078125.1	NM_001042576		5	58	0	0	0	1	0	5	58				
IL17F	112744	broad.mit.edu	37	6	52101833	52101833	+	Missense_Mutation	SNP	C	C	T	rs141798304	byFrequency	TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr6:52101833C>T	ENST00000336123.4	-	3	495	c.388G>A	c.(388-390)Gtc>Atc	p.V130I		NM_052872.3	NP_443104.1	Q96PD4	IL17F_HUMAN	interleukin 17F	130					cartilage development (GO:0051216)|cytokine biosynthetic process (GO:0042089)|inflammatory response (GO:0006954)|lymphotoxin A biosynthetic process (GO:0042109)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteoglycan metabolic process (GO:0006029)|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045423)|regulation of interleukin-2 biosynthetic process (GO:0045076)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of interleukin-8 biosynthetic process (GO:0045414)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine binding (GO:0019955)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)	14	Lung NSC(77;0.116)					TTCCTCCGGACGACCAGGGTC	0.542																																						ENST00000336123.4																			0				NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)	14						c.(388-390)Gtc>Atc		interleukin 17F		C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	92.0	84.0	87.0		388	4.9	1.0	6	dbSNP_134	87	4,8596	3.7+/-12.6	0,4,4296	yes	missense	IL17F	NM_052872.3	29	0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384	benign	130/164	52101833	5,13001	2203	4300	6503	SO:0001583	missense	112744				cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|cytokine binding|protein homodimerization activity	g.chr6:52101833C>T	AF384857	CCDS4938.1	6p12	2014-09-17			ENSG00000112116	ENSG00000112116		"""Interleukins and interleukin receptors"""	16404	protein-coding gene	gene with protein product		606496				11591732, 11591768	Standard	NM_052872		Approved	IL-17F, ML-1, ML1	uc003pam.1	Q96PD4	OTTHUMG00000014845	ENST00000336123.4:c.388G>A	6.37:g.52101833C>T	ENSP00000337432:p.Val130Ile						p.V130I	NM_052872.3	NP_443104.1	Q96PD4	IL17F_HUMAN			3	495	-	Lung NSC(77;0.116)		130					Q6NSI0|Q7Z6P4|Q96PI8|Q9NUE6	Missense_Mutation	SNP	ENST00000336123.4	37	c.388G>A	CCDS4938.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.915084	0.52546	2.27E-4	4.65E-4	ENSG00000112116	ENST00000336123	T	0.54866	0.55	5.72	4.86	0.63082	.	0.070131	0.64402	D	0.000019	T	0.20455	0.0492	N	0.14661	0.345	0.22989	N	0.998468	B	0.19817	0.039	B	0.17098	0.017	T	0.21211	-1.0252	10	0.66056	D	0.02	-31.8382	14.6124	0.68524	0.0:0.1482:0.8518:0.0	.	130	Q96PD4	IL17F_HUMAN	I	130	ENSP00000337432:V130I	ENSP00000337432:V130I	V	-	1	0	IL17F	52209792	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	4.094000	0.57721	1.443000	0.47586	-0.133000	0.14855	GTC		0.542	IL17F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040901.3	NM_052872		8	44	0	0	0	1	0	8	44				
GTF2IRD2P1	401375	broad.mit.edu	37	7	72658179	72658179	+	RNA	SNP	T	T	C	rs62464331		TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr7:72658179T>C	ENST00000425256.1	-	0	1732									GTF2I repeat domain containing 2 pseudogene 1																		cagagtgatttcggatgaatt	0.507																																						ENST00000425256.1																			0																																																			0							g.chr7:72658179T>C	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72658179T>C								NR_002164.1						0	1732	-									RNA	SNP	ENST00000425256.1	37																																																																																						0.507	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		4	96	0	0	0	1	0	4	96				
EPB41L2	2037	broad.mit.edu	37	6	131211436	131211436	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr6:131211436C>G	ENST00000337057.3	-	11	1839	c.1658G>C	c.(1657-1659)gGa>gCa	p.G553A	EPB41L2_ENST00000528282.1_Missense_Mutation_p.G553A|EPB41L2_ENST00000527411.1_Missense_Mutation_p.G553A|EPB41L2_ENST00000445890.2_Missense_Mutation_p.G553A|EPB41L2_ENST00000525193.1_Missense_Mutation_p.G553A|EPB41L2_ENST00000529208.1_Missense_Mutation_p.G553A|EPB41L2_ENST00000392427.3_Missense_Mutation_p.G553A|EPB41L2_ENST00000368128.2_Missense_Mutation_p.G553A|EPB41L2_ENST00000525271.1_Missense_Mutation_p.G553A|EPB41L2_ENST00000530481.1_Missense_Mutation_p.G553A|EPB41L2_ENST00000527659.1_Missense_Mutation_p.G553A	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	553	Hydrophilic.				cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		GTGTTTACCTCCATCTAGACT	0.448																																						ENST00000337057.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44						c.(1657-1659)gGa>gCa		erythrocyte membrane protein band 4.1-like 2							115.0	130.0	125.0					6																	131211436		2203	4300	6503	SO:0001583	missense	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131211436C>G	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.1658G>C	6.37:g.131211436C>G	ENSP00000338481:p.Gly553Ala					EPB41L2_ENST00000525271.1_Missense_Mutation_p.G553A|EPB41L2_ENST00000527659.1_Missense_Mutation_p.G553A|EPB41L2_ENST00000530481.1_Missense_Mutation_p.G553A|EPB41L2_ENST00000445890.2_Missense_Mutation_p.G553A|EPB41L2_ENST00000529208.1_Missense_Mutation_p.G553A|EPB41L2_ENST00000528282.1_Missense_Mutation_p.G553A|EPB41L2_ENST00000525193.1_Missense_Mutation_p.G553A|EPB41L2_ENST00000368128.2_Missense_Mutation_p.G553A|EPB41L2_ENST00000527411.1_Missense_Mutation_p.G553A|EPB41L2_ENST00000392427.3_Missense_Mutation_p.G553A	p.G553A	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	11	1839	-	Breast(56;0.0639)		553			Hydrophilic.		B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Missense_Mutation	SNP	ENST00000337057.3	37	c.1658G>C	CCDS5141.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.84|19.84	3.902784|3.902784	0.72754|0.72754	.|.	.|.	ENSG00000079819|ENSG00000079819	ENST00000528282;ENST00000530481;ENST00000445890;ENST00000337057;ENST00000392427;ENST00000425439;ENST00000368128;ENST00000527411;ENST00000525271;ENST00000525193;ENST00000527659;ENST00000529208|ENST00000456097	D;D;D;D;D;D;D;D;D;D;D|.	0.87491|.	-2.08;-2.06;-2.08;-2.26;-2.09;-2.26;-2.11;-2.09;-2.03;-2.09;-2.11|.	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70842|0.70842	0.3270|0.3270	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	D;D;D;D;P|.	0.89917|.	1.0;0.999;1.0;0.999;0.684|.	D;D;D;D;B|.	0.91635|.	0.998;0.997;0.998;0.999;0.225|.	T|T	0.69355|0.69355	-0.5167|-0.5167	10|5	0.49607|.	T|.	0.09|.	.|.	19.2709|19.2709	0.94010|0.94010	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	553;553;553;553;553|.	E9PHY5;B4DHI8;E9PPD9;O43491;Q68DV2|.	.;.;.;E41L2_HUMAN;.|.	A|C	553|43	ENSP00000434308:G553A;ENSP00000434576:G553A;ENSP00000402041:G553A;ENSP00000338481:G553A;ENSP00000376222:G553A;ENSP00000357110:G553A;ENSP00000436348:G553A;ENSP00000432803:G553A;ENSP00000431988:G553A;ENSP00000431647:G553A;ENSP00000436641:G553A|.	ENSP00000338481:G553A|.	G|W	-|-	2|3	0|0	EPB41L2|EPB41L2	131253129|131253129	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	7.818000|7.818000	0.86416|0.86416	2.567000|2.567000	0.86603|0.86603	0.555000|0.555000	0.69702|0.69702	GGA|TGG		0.448	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			26	132	0	0	0	1	0	26	132				
FAM47C	442444	broad.mit.edu	37	X	37029461	37029461	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chrX:37029461T>C	ENST00000358047.3	+	1	3030	c.2978T>C	c.(2977-2979)aTg>aCg	p.M993T		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	993										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGCTATGAAATGCCTGGCATC	0.438																																						ENST00000358047.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(2977-2979)aTg>aCg		family with sequence similarity 47, member C							131.0	122.0	125.0					X																	37029461		2202	4300	6502	SO:0001583	missense	442444							g.chrX:37029461T>C	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.2978T>C	X.37:g.37029461T>C	ENSP00000367913:p.Met993Thr						p.M993T	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	3030	+			993					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.2978T>C	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	T	9.242	1.038567	0.19669	.	.	ENSG00000198173	ENST00000358047	T	0.16597	2.33	0.502	0.502	0.16932	.	.	.	.	.	T	0.36690	0.0976	M	0.77313	2.365	0.09310	N	1	D	0.62365	0.991	D	0.69479	0.964	T	0.08534	-1.0717	8	0.62326	D	0.03	.	.	.	.	.	993	Q5HY64	FA47C_HUMAN	T	993	ENSP00000367913:M993T	ENSP00000367913:M993T	M	+	2	0	FAM47C	36939382	0.050000	0.20438	0.023000	0.16930	0.086000	0.17979	0.649000	0.24843	0.400000	0.25396	0.242000	0.17961	ATG		0.438	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		40	62	0	0	0	1	0	40	62				
FLG	2312	broad.mit.edu	37	1	152281967	152281967	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr1:152281967C>A	ENST00000368799.1	-	3	5430	c.5395G>T	c.(5395-5397)Gac>Tac	p.D1799Y	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1799	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)			CTGGAGCTGTCTCGTGCCTGC	0.602									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.(5395-5397)Gac>Tac		filaggrin							287.0	296.0	293.0					1																	152281967		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.chr1:152281967C>A	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.5395G>T	1.37:g.152281967C>A	ENSP00000357789:p.Asp1799Tyr					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.D1799Y	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5430	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1799			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.5395G>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	10.19	1.281469	0.23392	.	.	ENSG00000143631	ENST00000368799;ENST00000271820	T	0.04706	3.57	4.09	0.744	0.18353	.	.	.	.	.	T	0.07503	0.0189	M	0.82923	2.615	0.09310	N	1	D	0.69078	0.997	D	0.65573	0.936	T	0.17107	-1.0380	9	0.87932	D	0	-11.4358	2.2818	0.04116	0.184:0.4877:0.2147:0.1136	.	1799	P20930	FILA_HUMAN	Y	1799;34	ENSP00000357789:D1799Y	ENSP00000271820:D34Y	D	-	1	0	FLG	150548591	0.052000	0.20516	0.012000	0.15200	0.008000	0.06430	1.678000	0.37586	0.442000	0.26555	0.461000	0.40582	GAC		0.602	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		56	412	1	0	5.47352e-35	1	5.97112e-35	56	412				
IL18RAP	8807	broad.mit.edu	37	2	103061723	103061723	+	Missense_Mutation	SNP	G	G	A	rs375315557		TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr2:103061723G>A	ENST00000264260.2	+	9	1584	c.995G>A	c.(994-996)cGc>cAc	p.R332H	IL18RAP_ENST00000409369.1_Missense_Mutation_p.R190H	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	332	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						CGTGATCTTCGCAGGAAGTTT	0.423																																						ENST00000264260.2																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						c.(994-996)cGc>cAc		interleukin 18 receptor accessory protein		G	HIS/ARG	0,4406		0,0,2203	113.0	105.0	107.0		995	-4.1	0.0	2		107	1,8599	1.2+/-3.3	0,1,4299	no	missense	IL18RAP	NM_003853.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	332/600	103061723	1,13005	2203	4300	6503	SO:0001583	missense	8807				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	g.chr2:103061723G>A	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.995G>A	2.37:g.103061723G>A	ENSP00000264260:p.Arg332His					IL18RAP_ENST00000409369.1_Missense_Mutation_p.R190H	p.R332H	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN			9	1584	+			332			Ig-like C2-type 2.		B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Missense_Mutation	SNP	ENST00000264260.2	37	c.995G>A	CCDS2061.1	.	.	.	.	.	.	.	.	.	.	G	6.905	0.536537	0.13188	0.0	1.16E-4	ENSG00000115607	ENST00000264260;ENST00000409369	T;T	0.13657	2.57;2.57	5.63	-4.12	0.03916	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.326070	0.04542	N	0.388360	T	0.08670	0.0215	N	0.25647	0.755	0.09310	N	1	B	0.14438	0.01	B	0.08055	0.003	T	0.39057	-0.9632	10	0.13108	T	0.6	.	8.7879	0.34832	0.5636:0.0:0.3371:0.0992	.	332	O95256	I18RA_HUMAN	H	332;190	ENSP00000264260:R332H;ENSP00000387201:R190H	ENSP00000264260:R332H	R	+	2	0	IL18RAP	102428155	0.000000	0.05858	0.000000	0.03702	0.585000	0.36419	-0.945000	0.03909	-0.460000	0.07003	-0.126000	0.14955	CGC		0.423	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853		4	78	0	0	0	1	0	4	78				
KRT2	3849	broad.mit.edu	37	12	53045508	53045508	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr12:53045508C>T	ENST00000309680.3	-	1	440	c.419G>A	c.(418-420)gGc>gAc	p.G140D		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	140	Head.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		AGGCCCAAAGCCACCAGGACC	0.592																																						ENST00000309680.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(418-420)gGc>gAc		keratin 2							77.0	77.0	77.0					12																	53045508		2203	4300	6503	SO:0001583	missense	3849				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:53045508C>T		CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6439	protein-coding gene	gene with protein product	"""epidermal ichthyosis bullosa of Siemens"""	600194	"""keratin 2A (epidermal ichthyosis bullosa of Siemens)"""	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.419G>A	12.37:g.53045508C>T	ENSP00000310861:p.Gly140Asp						p.G140D	NM_000423.2	NP_000414.2	P35908	K22E_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.19)	1	440	-			140			Head.		Q4VAQ2	Missense_Mutation	SNP	ENST00000309680.3	37	c.419G>A	CCDS8835.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.728428	0.48833	.	.	ENSG00000172867	ENST00000309680	D	0.85411	-1.98	4.91	4.91	0.64330	.	.	.	.	.	D	0.92619	0.7655	M	0.83953	2.67	0.45676	D	0.998599	D	0.89917	1.0	D	0.87578	0.998	D	0.91853	0.5493	9	0.35671	T	0.21	.	18.0882	0.89464	0.0:1.0:0.0:0.0	.	140	P35908	K22E_HUMAN	D	140	ENSP00000310861:G140D	ENSP00000310861:G140D	G	-	2	0	KRT2	51331775	0.025000	0.19082	0.996000	0.52242	0.607000	0.37147	2.750000	0.47500	2.465000	0.83290	0.655000	0.94253	GGC		0.592	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	NM_000423		22	45	0	0	0	1	0	22	45				
FAM71F2	346653	broad.mit.edu	37	7	128317737	128317737	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr7:128317737T>C	ENST00000480462.1	+	3	591	c.485T>C	c.(484-486)aTt>aCt	p.I162T	FAM71F2_ENST00000378704.3_Missense_Mutation_p.I153T|FAM71F2_ENST00000460349.1_3'UTR|FAM71F2_ENST00000477515.1_Intron			Q6NXP2	F71F2_HUMAN	family with sequence similarity 71, member F2	162										NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						CACCCAGAGATTGTGTTTCAA	0.507																																						ENST00000480462.1																			0				NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						c.(484-486)aTt>aCt		family with sequence similarity 71, member F2							62.0	64.0	63.0					7																	128317737		1991	4219	6210	SO:0001583	missense	346653							g.chr7:128317737T>C	BC047310	CCDS47701.1, CCDS47702.1	7q32.1	2009-04-17	2007-11-20	2007-11-20	ENSG00000205085	ENSG00000205085			27998	protein-coding gene	gene with protein product			"""family with sequence similarity 137, member B"""	FAM137B		12477932	Standard	XM_006715964		Approved		uc003vnk.4	Q6NXP2	OTTHUMG00000158275	ENST00000480462.1:c.485T>C	7.37:g.128317737T>C	ENSP00000420140:p.Ile162Thr					FAM71F2_ENST00000460349.1_3'UTR|FAM71F2_ENST00000477515.1_Intron|FAM71F2_ENST00000378704.3_Missense_Mutation_p.I153T	p.I162T			Q6NXP2	F71F2_HUMAN			3	591	+			162					Q0VGF6|Q0VGF7|Q86X39	Missense_Mutation	SNP	ENST00000480462.1	37	c.485T>C	CCDS47701.1	.	.	.	.	.	.	.	.	.	.	T	0.007	-1.944381	0.00479	.	.	ENSG00000205085	ENST00000474069;ENST00000480462;ENST00000378704;ENST00000434001	T;T;T;T	0.14640	2.49;2.49;2.49;2.49	5.6	3.72	0.42706	.	0.740645	0.12048	N	0.504374	T	0.03220	0.0094	N	0.00483	-1.445	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.38351	-0.9665	10	0.07175	T	0.84	-10.1319	7.6617	0.28407	0.0:0.8108:0.0:0.1892	.	153;162	Q6NXP2-2;Q6NXP2	.;F71F2_HUMAN	T	153;162;153;153	ENSP00000418907:I153T;ENSP00000420140:I162T;ENSP00000367976:I153T;ENSP00000401654:I153T	ENSP00000367976:I153T	I	+	2	0	FAM71F2	128104973	0.001000	0.12720	0.696000	0.30242	0.031000	0.12232	0.672000	0.25187	1.347000	0.45714	-0.182000	0.12963	ATT		0.507	FAM71F2-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350537.1			7	113	0	0	0	1	0	7	113				
TBC1D10A	83874	broad.mit.edu	37	22	30688392	30688392	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr22:30688392G>C	ENST00000215790.7	-	9	1663	c.1499C>G	c.(1498-1500)tCc>tGc	p.S500C	TBC1D10A_ENST00000403362.1_Missense_Mutation_p.S412C|GATSL3_ENST00000407689.3_5'Flank|TBC1D10A_ENST00000403477.3_Missense_Mutation_p.S507C|RP1-130H16.18_ENST00000447976.1_Intron|GATSL3_ENST00000404953.3_5'Flank	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	500					activation of cysteine-type endopeptidase activity (GO:0097202)|positive regulation of proteolysis (GO:0045862)|retrograde transport, endosome to Golgi (GO:0042147)	extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rab GTPase activator activity (GO:0005097)			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						ACTCTCTTGGGACGTCAAGCT	0.592																																						ENST00000215790.7																			0				cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(1498-1500)tCc>tGc		TBC1 domain family, member 10A							108.0	119.0	115.0					22																	30688392		2203	4300	6503	SO:0001583	missense	83874					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity	g.chr22:30688392G>C	AF331038	CCDS13874.1, CCDS56227.1	22q12.2	2013-07-09	2005-03-10	2005-03-10	ENSG00000099992	ENSG00000099992			23609	protein-coding gene	gene with protein product	"""EBP50-PDZ interactor of 64 kD"""	610020	"""TBC1 domain family, member 10"""	TBC1D10		11285285, 20404108	Standard	NM_001204240		Approved	EPI64, AC004997.C22.2	uc010gvu.3	Q9BXI6	OTTHUMG00000150924	ENST00000215790.7:c.1499C>G	22.37:g.30688392G>C	ENSP00000215790:p.Ser500Cys					TBC1D10A_ENST00000403362.1_Missense_Mutation_p.S412C|TBC1D10A_ENST00000403477.3_Missense_Mutation_p.S507C|RP1-130H16.18_ENST00000447976.1_Intron	p.S500C	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN			9	1663	-			500					B3KXT8|O76053|Q20WK7|Q543A2	Missense_Mutation	SNP	ENST00000215790.7	37	c.1499C>G	CCDS13874.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.951148	0.73787	.	.	ENSG00000099992	ENST00000215790;ENST00000403477;ENST00000403362	T;T;T	0.11169	2.8;2.83;2.87	5.12	5.12	0.69794	.	0.161766	0.43747	D	0.000534	T	0.28566	0.0707	L	0.54323	1.7	0.53688	D	0.999971	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.65573	0.936;0.936;0.936	T	0.00677	-1.1614	10	0.87932	D	0	.	17.5052	0.87743	0.0:0.0:1.0:0.0	.	500;507;500	Q20WK7;B3KXT8;Q9BXI6	.;.;TB10A_HUMAN	C	500;507;412	ENSP00000215790:S500C;ENSP00000384996:S507C;ENSP00000385050:S412C	ENSP00000215790:S500C	S	-	2	0	TBC1D10A	29018392	1.000000	0.71417	0.997000	0.53966	0.923000	0.55619	7.339000	0.79282	2.569000	0.86673	0.561000	0.74099	TCC		0.592	TBC1D10A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320550.1	NM_031937		55	144	0	0	0	1	0	55	144				
HECW1	23072	broad.mit.edu	37	7	43591856	43591856	+	Silent	SNP	C	C	T			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr7:43591856C>T	ENST00000395891.2	+	28	5036	c.4431C>T	c.(4429-4431)gcC>gcT	p.A1477A	HECW1_ENST00000453890.1_Silent_p.A1443A	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1477	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TGTTTGATGCCAGGGAGCTGG	0.517																																						ENST00000395891.1																			0				NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						c.(4429-4431)gcC>gcT		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1							118.0	123.0	122.0					7																	43591856		2036	4186	6222	SO:0001819	synonymous_variant	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43591856C>T	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.4431C>T	7.37:g.43591856C>T						HECW1_ENST00000453890.1_Silent_p.A1443A	p.A1477A	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN			28	5036	+			1477			HECT.		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	ENST00000395891.2	37	c.4431C>T	CCDS5469.2																																																																																				0.517	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		13	89	0	0	0	1	0	13	89				
KGFLP2	654466	broad.mit.edu	37	9	41962666	41962666	+	lincRNA	SNP	T	T	G			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr9:41962666T>G	ENST00000454645.1	-	0	838					NR_003670.1																						CCTCCGTTGTTTGTCCATTTA	0.358																																						ENST00000454645.1																			0																																																			0							g.chr9:41962666T>G																													9.37:g.41962666T>G								NR_003670.1						0	838	-									RNA	SNP	ENST00000454645.1	37																																																																																						0.358	RP11-204M4.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000143738.1			6	49	0	0	0	1	0	6	49				
RALGAPA1	253959	broad.mit.edu	37	14	36147303	36147303	+	Nonsense_Mutation	SNP	C	C	A			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr14:36147303C>A	ENST00000389698.3	-	21	3349	c.2959G>T	c.(2959-2961)Gaa>Taa	p.E987*	RALGAPA1_ENST00000258840.6_Nonsense_Mutation_p.E1034*|RALGAPA1_ENST00000307138.6_Nonsense_Mutation_p.E987*|RALGAPA1_ENST00000382366.3_Nonsense_Mutation_p.E1000*	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	987					activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GAAGCACTTTCTGAACCTGTA	0.373																																						ENST00000258840.6																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(3100-3102)Gaa>Taa		Ral GTPase activating protein, alpha subunit 1 (catalytic)							58.0	59.0	59.0					14																	36147303		2203	4300	6503	SO:0001587	stop_gained	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36147303C>A	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.2959G>T	14.37:g.36147303C>A	ENSP00000374348:p.Glu987*					RALGAPA1_ENST00000382366.3_Nonsense_Mutation_p.E1000*|RALGAPA1_ENST00000389698.3_Nonsense_Mutation_p.E987*|RALGAPA1_ENST00000307138.6_Nonsense_Mutation_p.E987*	p.E1034*			Q6GYQ0	RGPA1_HUMAN			22	3490	-			987					A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Nonsense_Mutation	SNP	ENST00000389698.3	37	c.3100G>T	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	C	44	10.699527	0.99452	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000382366;ENST00000553892	.	.	.	5.32	5.32	0.75619	.	0.115597	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-16.9258	18.9714	0.92716	0.0:1.0:0.0:0.0	.	.	.	.	X	987;987;987;1034;1000;1034	.	ENSP00000258840:E1034X	E	-	1	0	RALGAPA1	35217054	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.435000	0.80391	2.484000	0.83849	0.591000	0.81541	GAA		0.373	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		11	18	1	0	1.5842e-08	1	1.60651e-08	11	18				
TSPAN31	6302	broad.mit.edu	37	12	58135803	58135803	+	5'Flank	SNP	G	G	A			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr12:58135803G>A	ENST00000257910.3	+	0	0				TSPAN31_ENST00000553221.1_Intron|AGAP2_ENST00000257897.3_Nonsense_Mutation_p.R18*	NM_005981.3	NP_005972.1	Q12999	TSN31_HUMAN	tetraspanin 31						positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(1)|kidney(1)|lung(5)	7	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			ACCTCATGTCGTCTGACTTCT	0.592																																						ENST00000257897.3																			0				breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						c.(52-54)Cga>Tga		ArfGAP with GTPase domain, ankyrin repeat and PH domain 2							208.0	166.0	180.0					12																	58135803		2203	4300	6503	SO:0001631	upstream_gene_variant	116986				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr12:58135803G>A		CCDS8952.1	12q13-q14	2013-02-14	2005-08-16	2005-08-16		ENSG00000135452		"""Tetraspanins"""	10539	protein-coding gene	gene with protein product		181035	"""sarcoma amplified sequence"""	SAS			Standard	NM_005981		Approved		uc001spt.3	Q12999			12.37:g.58135803G>A	Exception_encountered					TSPAN31_ENST00000553221.1_Intron	p.R18*	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN			1	137	-			0			Interaction with EPB41L1 (By similarity).		O00577|Q53X76	Nonsense_Mutation	SNP	ENST00000257910.3	37	c.52C>T	CCDS8952.1	.	.	.	.	.	.	.	.	.	.	g	24.2	4.499571	0.85176	.	.	ENSG00000135439	ENST00000257897	.	.	.	4.76	4.76	0.60689	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.6997	0.62602	0.0:0.0:1.0:0.0	.	.	.	.	X	18	.	ENSP00000257897:R18X	R	-	1	2	AGAP2	56422070	1.000000	0.71417	1.000000	0.80357	0.652000	0.38707	1.153000	0.31676	2.375000	0.81037	0.282000	0.19409	CGA		0.592	TSPAN31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408778.1			403	112	0	0	0	1	0	403	112				
EPB41L2	2037	broad.mit.edu	37	6	131211508	131211508	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr6:131211508C>G	ENST00000337057.3	-	11	1767	c.1586G>C	c.(1585-1587)aGc>aCc	p.S529T	EPB41L2_ENST00000528282.1_Missense_Mutation_p.S529T|EPB41L2_ENST00000527411.1_Missense_Mutation_p.S529T|EPB41L2_ENST00000445890.2_Missense_Mutation_p.S529T|EPB41L2_ENST00000525193.1_Missense_Mutation_p.S529T|EPB41L2_ENST00000529208.1_Missense_Mutation_p.S529T|EPB41L2_ENST00000392427.3_Missense_Mutation_p.S529T|EPB41L2_ENST00000368128.2_Missense_Mutation_p.S529T|EPB41L2_ENST00000525271.1_Missense_Mutation_p.S529T|EPB41L2_ENST00000530481.1_Missense_Mutation_p.S529T|EPB41L2_ENST00000527659.1_Missense_Mutation_p.S529T	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	529	Hydrophilic.				cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TATGAGGGTGCTGGCCTGGCG	0.507																																						ENST00000337057.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44						c.(1585-1587)aGc>aCc		erythrocyte membrane protein band 4.1-like 2							127.0	138.0	134.0					6																	131211508		2203	4300	6503	SO:0001583	missense	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131211508C>G	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.1586G>C	6.37:g.131211508C>G	ENSP00000338481:p.Ser529Thr					EPB41L2_ENST00000525271.1_Missense_Mutation_p.S529T|EPB41L2_ENST00000527659.1_Missense_Mutation_p.S529T|EPB41L2_ENST00000530481.1_Missense_Mutation_p.S529T|EPB41L2_ENST00000445890.2_Missense_Mutation_p.S529T|EPB41L2_ENST00000529208.1_Missense_Mutation_p.S529T|EPB41L2_ENST00000528282.1_Missense_Mutation_p.S529T|EPB41L2_ENST00000525193.1_Missense_Mutation_p.S529T|EPB41L2_ENST00000368128.2_Missense_Mutation_p.S529T|EPB41L2_ENST00000527411.1_Missense_Mutation_p.S529T|EPB41L2_ENST00000392427.3_Missense_Mutation_p.S529T	p.S529T	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	11	1767	-	Breast(56;0.0639)		529			Hydrophilic.		B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Missense_Mutation	SNP	ENST00000337057.3	37	c.1586G>C	CCDS5141.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.7|28.7	4.939595|4.939595	0.92526|0.92526	.|.	.|.	ENSG00000079819|ENSG00000079819	ENST00000456097|ENST00000528282;ENST00000530481;ENST00000445890;ENST00000337057;ENST00000392427;ENST00000425439;ENST00000368128;ENST00000527411;ENST00000525271;ENST00000525193;ENST00000527659;ENST00000529208	.|D;D;D;D;D;D;D;D;D;D;D	.|0.89050	.|-2.46;-2.46;-2.46;-2.46;-2.46;-2.46;-2.46;-2.46;-2.46;-2.46;-2.46	5.44|5.44	5.44|5.44	0.79542|0.79542	.|FERM adjacent (FA) (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.94591|0.94591	0.8257|0.8257	M|M	0.84326|0.84326	2.69|2.69	0.80722|0.80722	D|D	1|1	.|D;D;D;D;P	.|0.76494	.|0.999;0.999;0.999;0.999;0.644	.|D;D;D;D;B	.|0.87578	.|0.996;0.995;0.996;0.998;0.284	D|D	0.94898|0.94898	0.8054|0.8054	5|10	.|0.87932	.|D	.|0	.|.	19.2709|19.2709	0.94010|0.94010	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|529;529;529;529;529	.|E9PHY5;B4DHI8;E9PPD9;O43491;Q68DV2	.|.;.;.;E41L2_HUMAN;.	H|T	19|529	.|ENSP00000434308:S529T;ENSP00000434576:S529T;ENSP00000402041:S529T;ENSP00000338481:S529T;ENSP00000376222:S529T;ENSP00000357110:S529T;ENSP00000436348:S529T;ENSP00000432803:S529T;ENSP00000431988:S529T;ENSP00000431647:S529T;ENSP00000436641:S529T	.|ENSP00000338481:S529T	Q|S	-|-	3|2	2|0	EPB41L2|EPB41L2	131253201|131253201	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.818000|7.818000	0.86416|0.86416	2.567000|2.567000	0.86603|0.86603	0.555000|0.555000	0.69702|0.69702	CAG|AGC		0.507	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			29	117	0	0	0	1	0	29	117				
GRIN1	2902	broad.mit.edu	37	9	140040319	140040319	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr9:140040319C>T	ENST00000371561.3	+	3	1632	c.535C>T	c.(535-537)Cgc>Tgc	p.R179C	GRIN1_ENST00000350902.5_Missense_Mutation_p.R179C|GRIN1_ENST00000371560.3_Missense_Mutation_p.R179C|GRIN1_ENST00000371559.4_Missense_Mutation_p.R179C|GRIN1_ENST00000371555.4_Missense_Mutation_p.R179C|GRIN1_ENST00000315048.3_Missense_Mutation_p.R179C|GRIN1_ENST00000371550.4_Missense_Mutation_p.R179C|GRIN1_ENST00000371553.3_Missense_Mutation_p.R179C|GRIN1_ENST00000371546.4_Missense_Mutation_p.R179C|GRIN1_ENST00000471122.1_3'UTR	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	179					adult locomotory behavior (GO:0008344)|calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular calcium ion homeostasis (GO:0006874)|cellular response to manganese ion (GO:0071287)|cerebral cortex development (GO:0021987)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|male mating behavior (GO:0060179)|negative regulation of neuron apoptotic process (GO:0043524)|olfactory learning (GO:0008355)|pons maturation (GO:0021586)|positive regulation of apoptotic process (GO:0043065)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|propylene metabolic process (GO:0018964)|protein tetramerization (GO:0051262)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange (GO:0043576)|regulation of synapse assembly (GO:0051963)|respiratory gaseous exchange (GO:0007585)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to morphine (GO:0043278)|rhythmic process (GO:0048511)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic cleft (GO:0043083)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate binding (GO:0016595)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|voltage-gated cation channel activity (GO:0022843)			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GGCTCAGAAACGCCTGGAGAC	0.672																																					NSCLC(113;717 1653 2089 20474 37618)	ENST00000371561.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(535-537)Cgc>Tgc		glutamate receptor, ionotropic, N-methyl D-aspartate 1	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)						40.0	28.0	32.0					9																	140040319		2202	4298	6500	SO:0001583	missense	2902				ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding	g.chr9:140040319C>T		CCDS7031.1, CCDS7032.1, CCDS43910.1, CCDS55354.1, CCDS55355.1	9q34.3	2013-01-11			ENSG00000176884	ENSG00000176884		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4584	protein-coding gene	gene with protein product		138249	"""N-methyl-D-aspartate receptor subunit NR1"""	NMDAR1		1350383	Standard	NM_000832		Approved	GluN1	uc004cln.3	Q05586	OTTHUMG00000020976	ENST00000371561.3:c.535C>T	9.37:g.140040319C>T	ENSP00000360616:p.Arg179Cys					GRIN1_ENST00000371546.4_Missense_Mutation_p.R179C|GRIN1_ENST00000371555.4_Missense_Mutation_p.R179C|GRIN1_ENST00000315048.3_Missense_Mutation_p.R179C|GRIN1_ENST00000371560.3_Missense_Mutation_p.R179C|GRIN1_ENST00000371550.4_Missense_Mutation_p.R179C|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371559.4_Missense_Mutation_p.R179C|GRIN1_ENST00000350902.5_Missense_Mutation_p.R179C|GRIN1_ENST00000371553.3_Missense_Mutation_p.R179C	p.R179C	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	3	1632	+	all_cancers(76;0.0926)		179					A6NLK7|A6NLR1|C9K0X1|P35437|Q12867|Q12868|Q5VSF3|Q5VSF4|Q5VSF5|Q5VSF6|Q5VSF7|Q5VSF8|Q9UPF8|Q9UPF9	Missense_Mutation	SNP	ENST00000371561.3	37	c.535C>T	CCDS7031.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.636939	0.67130	.	.	ENSG00000176884	ENST00000371561;ENST00000315048;ENST00000350902;ENST00000371550;ENST00000371546;ENST00000371555;ENST00000371553;ENST00000371559;ENST00000371560	D;D;D;D;D;D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83	3.86	3.86	0.44501	Extracellular ligand-binding receptor (1);	0.238566	0.35235	N	0.003344	D	0.89938	0.6860	M	0.71036	2.16	0.52501	D	0.999951	D;D;D;D;D;D	0.89917	0.99;0.961;0.997;0.999;0.999;1.0	P;P;P;D;D;D	0.72625	0.851;0.67;0.895;0.935;0.961;0.978	D	0.90054	0.4151	10	0.72032	D	0.01	.	9.0984	0.36653	0.3508:0.6492:0.0:0.0	.	179;179;179;179;179;179	Q5VSF4;Q5VSF5;Q05586-2;Q05586-3;Q05586;A2AVK2	.;.;.;.;NMDZ1_HUMAN;.	C	179	ENSP00000360616:R179C;ENSP00000316696:R179C;ENSP00000316915:R179C;ENSP00000360605:R179C;ENSP00000360601:R179C;ENSP00000360610:R179C;ENSP00000360608:R179C;ENSP00000360614:R179C;ENSP00000360615:R179C	ENSP00000316696:R179C	R	+	1	0	GRIN1	139160140	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.054000	0.64275	1.696000	0.51158	0.313000	0.20887	CGC		0.672	GRIN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055267.3	NM_007327		4	5	0	0	0	1	0	4	5				
EMB	133418	broad.mit.edu	37	5	49723994	49723994	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr5:49723994A>T	ENST00000303221.5	-	2	395	c.180T>A	c.(178-180)caT>caA	p.H60Q	EMB_ENST00000508934.1_Missense_Mutation_p.H60Q|EMB_ENST00000514111.1_Missense_Mutation_p.H10Q|EMB_ENST00000506190.1_5'UTR	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN	embigin	60					cell adhesion (GO:0007155)|plasma membrane lactate transport (GO:0035879)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	organic cyclic compound binding (GO:0097159)			breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				GTGATATGTTATGACTCTCCA	0.328																																						ENST00000303221.5																			0				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15						c.(178-180)caT>caA		embigin							123.0	121.0	122.0					5																	49723994		2203	4300	6503	SO:0001583	missense	133418					integral to membrane		g.chr5:49723994A>T	BC059398	CCDS3953.1	5q11.1	2013-01-29	2010-06-24		ENSG00000170571	ENSG00000170571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30465	protein-coding gene	gene with protein product		615669	"""embigin homolog (mouse)"""			9438341	Standard	NM_198449		Approved	MGC71745	uc003jom.3	Q6PCB8	OTTHUMG00000131161	ENST00000303221.5:c.180T>A	5.37:g.49723994A>T	ENSP00000302289:p.His60Gln					EMB_ENST00000514111.1_Missense_Mutation_p.H10Q|EMB_ENST00000508934.1_Missense_Mutation_p.H60Q|EMB_ENST00000506190.1_5'UTR	p.H60Q	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN			2	395	-	Lung SC(58;0.218)	Lung NSC(810;0.0795)	60					B7Z6S3|B7Z902	Missense_Mutation	SNP	ENST00000303221.5	37	c.180T>A	CCDS3953.1	.	.	.	.	.	.	.	.	.	.	A	7.465	0.645454	0.14451	.	.	ENSG00000170571	ENST00000303221;ENST00000508934;ENST00000514111	T;T;T	0.47177	0.97;0.85;1.02	4.43	2.03	0.26663	.	1.148420	0.06250	N	0.691849	T	0.32071	0.0817	N	0.19112	0.55	0.20638	N	0.99987	P;P	0.50943	0.94;0.94	B;B	0.41571	0.36;0.36	T	0.16482	-1.0401	9	.	.	.	-0.3527	6.1331	0.20217	0.7985:0.0:0.2015:0.0	.	60;60	D6RDX7;Q6PCB8	.;EMB_HUMAN	Q	60;60;10	ENSP00000302289:H60Q;ENSP00000425215:H60Q;ENSP00000426404:H10Q	.	H	-	3	2	EMB	49759751	0.930000	0.31532	0.681000	0.30009	0.392000	0.30506	1.462000	0.35266	0.465000	0.27167	0.533000	0.62120	CAT		0.328	EMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253853.1	NM_198449		10	46	0	0	0	1	0	10	46				
PTPN14	5784	broad.mit.edu	37	1	214556732	214556732	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr1:214556732T>A	ENST00000366956.5	-	13	2660	c.2466A>T	c.(2464-2466)aaA>aaT	p.K822N	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	822					lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TCACAGGCTCTTTTTTGACCC	0.552																																					Colon(92;557 1424 24372 34121 40073)	ENST00000366956.5																			0				NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(2464-2466)aaA>aaT		protein tyrosine phosphatase, non-receptor type 14							76.0	80.0	78.0					1																	214556732		2203	4300	6503	SO:0001583	missense	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214556732T>A	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.2466A>T	1.37:g.214556732T>A	ENSP00000355923:p.Lys822Asn					PTPN14_ENST00000543945.1_3'UTR	p.K822N	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	13	2660	-			822					Q5VSI0	Missense_Mutation	SNP	ENST00000366956.5	37	c.2466A>T	CCDS1514.1	.	.	.	.	.	.	.	.	.	.	T	9.195	1.026906	0.19512	.	.	ENSG00000152104	ENST00000366956	T	0.71934	-0.61	5.1	-7.09	0.01553	.	0.000000	0.85682	D	0.000000	T	0.75547	0.3864	L	0.58669	1.825	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.79797	-0.1652	10	0.52906	T	0.07	.	13.9123	0.63876	0.0:0.4864:0.0:0.5136	.	822	Q15678	PTN14_HUMAN	N	822	ENSP00000355923:K822N	ENSP00000355923:K822N	K	-	3	2	PTPN14	212623355	0.365000	0.25006	0.078000	0.20375	0.103000	0.19146	-0.346000	0.07760	-1.801000	0.01245	-0.376000	0.06991	AAA		0.552	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		11	74	0	0	0	1	0	11	74				
CDYL2	124359	broad.mit.edu	37	16	80646694	80646694	+	Silent	SNP	G	G	A	rs201151824		TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr16:80646694G>A	ENST00000570137.2	-	5	1202	c.1047C>T	c.(1045-1047)atC>atT	p.I349I	CDYL2_ENST00000566173.1_Silent_p.I350I|CDYL2_ENST00000563890.1_Silent_p.I350I|CDYL2_ENST00000562812.1_Silent_p.I350I	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	349						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						TGGCCACCACGATAGGCTTCT	0.567																																						ENST00000299564.8																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						c.(1045-1047)atC>atT		chromodomain protein, Y-like 2							68.0	66.0	66.0					16																	80646694		2203	4300	6503	SO:0001819	synonymous_variant	124359					nucleus	catalytic activity|protein binding	g.chr16:80646694G>A	AK096185	CCDS32493.1	16q23.2	2008-02-05	2003-09-12			ENSG00000166446			23030	protein-coding gene	gene with protein product			"""chromodomain Y-like protein 2"""			12837688	Standard	NM_152342		Approved	FLJ38866	uc002ffs.3	Q8N8U2		ENST00000570137.2:c.1047C>T	16.37:g.80646694G>A						CDYL2_ENST00000563890.1_Silent_p.I350I|CDYL2_ENST00000562812.1_Silent_p.I350I|CDYL2_ENST00000566173.1_Silent_p.I350I	p.I349I	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN			5	1202	-			349					Q7Z5I8	Silent	SNP	ENST00000570137.2	37	c.1047C>T	CCDS32493.1																																																																																				0.567	CDYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434727.2	NM_152342		15	54	0	0	0	1	0	15	54				
FSTL1	11167	broad.mit.edu	37	3	120123741	120123741	+	Silent	SNP	A	A	G			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr3:120123741A>G	ENST00000295633.3	-	7	896	c.540T>C	c.(538-540)aaT>aaC	p.N180N	FSTL1_ENST00000424703.2_Silent_p.N145N	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1	180					BMP signaling pathway (GO:0030509)|response to starvation (GO:0042594)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		ACGTTGTAATATTGATGGCAG	0.453																																						ENST00000295633.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20						c.(538-540)aaT>aaC		follistatin-like 1							247.0	230.0	236.0					3																	120123741		2203	4300	6503	SO:0001819	synonymous_variant	11167				BMP signaling pathway	extracellular space	calcium ion binding|heparin binding	g.chr3:120123741A>G	U06863	CCDS2998.1	3q13.33	2013-01-10			ENSG00000163430	ENSG00000163430		"""EF-hand domain containing"""	3972	protein-coding gene	gene with protein product		605547				7957230, 9786430	Standard	NM_007085		Approved	FRP, FSL1	uc003eds.3	Q12841	OTTHUMG00000159440	ENST00000295633.3:c.540T>C	3.37:g.120123741A>G						FSTL1_ENST00000424703.2_Silent_p.N145N	p.N180N	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN		GBM - Glioblastoma multiforme(114;0.189)	7	896	-			180					A8K523|B4DTT5|D3DN90|Q549Z0	Silent	SNP	ENST00000295633.3	37	c.540T>C	CCDS2998.1																																																																																				0.453	FSTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355399.1	NM_007085		24	76	0	0	0	1	0	24	76				
RGS22	26166	broad.mit.edu	37	8	100990160	100990160	+	Silent	SNP	G	G	A	rs372450445	byFrequency	TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr8:100990160G>A	ENST00000360863.6	-	23	3698	c.3504C>T	c.(3502-3504)gaC>gaT	p.D1168D	RGS22_ENST00000523287.1_Silent_p.D987D|RGS22_ENST00000523437.1_Silent_p.D1156D	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	1168					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CAGATTTTTCGTCTTCTAGGA	0.303													G|||	2	0.000399361	0.0	0.0	5008	,	,		17560	0.0		0.0	False		,,,				2504	0.002					ENST00000360863.6																		RGS22/SYCP1(2)	0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(3502-3504)gaC>gaT		regulator of G-protein signaling 22		G		1,3595		0,1,1797	98.0	91.0	93.0		3504	-11.1	0.0	8		93	0,8142		0,0,4071	no	coding-synonymous	RGS22	NM_015668.3		0,1,5868	AA,AG,GG		0.0,0.0278,0.0085		1168/1265	100990160	1,11737	1798	4071	5869	SO:0001819	synonymous_variant	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:100990160G>A	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.3504C>T	8.37:g.100990160G>A						RGS22_ENST00000523287.1_Silent_p.D987D|RGS22_ENST00000523437.1_Silent_p.D1156D	p.D1168D	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		23	3698	-			1168					A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Silent	SNP	ENST00000360863.6	37	c.3504C>T	CCDS43758.1																																																																																				0.303	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		21	48	0	0	0	1	0	21	48				
EGFR	1956	broad.mit.edu	37	7	55210075	55210075	+	Missense_Mutation	SNP	T	T	G			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr7:55210075T>G	ENST00000275493.2	+	2	362	c.185T>G	c.(184-186)cTt>cGt	p.L62R	EGFR_ENST00000442591.1_Missense_Mutation_p.L62R|EGFR_ENST00000344576.2_Missense_Mutation_p.L62R|EGFR_ENST00000420316.2_Missense_Mutation_p.L62R|EGFR_ENST00000342916.3_Missense_Mutation_p.L62R|EGFR_ENST00000454757.2_Missense_Mutation_p.L9R|EGFR_ENST00000455089.1_Missense_Mutation_p.L62R	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	62			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		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.L62R(3)		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)	GAGGTGGTCCTTGGGAATTTG	0.408		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"""		3	Substitution - Missense(3)	p.L62R(3)	lung(2)|central_nervous_system(1)	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.(184-186)cTt>cGt		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						175.0	167.0	170.0					7																	55210075		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.chr7:55210075T>G		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.185T>G	7.37:g.55210075T>G	ENSP00000275493:p.Leu62Arg	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000442591.1_Missense_Mutation_p.L62R|EGFR_ENST00000342916.3_Missense_Mutation_p.L62R|EGFR_ENST00000344576.2_Missense_Mutation_p.L62R|EGFR_ENST00000454757.2_Missense_Mutation_p.L9R|EGFR_ENST00000420316.2_Missense_Mutation_p.L62R|EGFR_ENST00000455089.1_Missense_Mutation_p.L62R	p.L62R	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)		2	362	+	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)		62					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.185T>G	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	T	19.51	3.842145	0.71488	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000450046;ENST00000454757	T;T;T;T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27	6.05	4.9	0.64082	EGF receptor, L domain (1);	0.059356	0.64402	D	0.000001	D	0.87857	0.6283	M	0.86028	2.79	0.54753	D	0.999982	P;P;D;D;D	0.89917	0.882;0.795;1.0;0.991;0.992	P;P;D;P;P	0.74674	0.626;0.553;0.984;0.825;0.814	D	0.88586	0.3140	10	0.72032	D	0.01	.	11.1407	0.48400	0.0:0.0723:0.0:0.9277	.	62;62;62;62;62	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	R	62;62;62;62;62;62;9;9	ENSP00000415559:L62R;ENSP00000342376:L62R;ENSP00000345973:L62R;ENSP00000413843:L62R;ENSP00000275493:L62R;ENSP00000410031:L62R;ENSP00000413354:L9R;ENSP00000395243:L9R	ENSP00000275493:L62R	L	+	2	0	EGFR	55177569	1.000000	0.71417	0.981000	0.43875	0.771000	0.43674	5.950000	0.70265	1.114000	0.41781	-0.263000	0.10527	CTT		0.408	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		38	118	0	0	0	1	0	38	118				
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	lincRNA	SNP	A	A	G	rs12107841	byFrequency	TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324									long intergenic non-protein coding RNA 969																		GATTGTGCCCAGCCTGTACGC	0.587																																						ENST00000445430.1																			0																																																			0							g.chr3:195400728A>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400728A>G														0	1324	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.587	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			4	69	0	0	0	1	0	4	69				
MLLT3	4300	broad.mit.edu	37	9	20414346	20414346	+	Silent	SNP	G	G	A			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr9:20414346G>A	ENST00000380338.4	-	5	784	c.498C>T	c.(496-498)agC>agT	p.S166S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	166	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S166S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.527			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		4	Substitution - coding silent(4)	p.S166S(4)	urinary_tract(2)|lung(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(496-498)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414346		1434	3114	4548	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414346G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.498C>T	9.37:g.20414346G>A						MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000475957.1_5'UTR	p.S166S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	784	-			166			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.498C>T	CCDS6494.1																																																																																				0.527	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		6	114	0	0	0	1	0	6	114				
KGFLP2	654466	broad.mit.edu	37	9	41962661	41962661	+	lincRNA	SNP	G	G	A			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr9:41962661G>A	ENST00000454645.1	-	0	843					NR_003670.1																						TTTCCCCTCCGTTGTTTGTCC	0.368																																						ENST00000454645.1																			0																																																			0							g.chr9:41962661G>A																													9.37:g.41962661G>A								NR_003670.1						0	843	-									RNA	SNP	ENST00000454645.1	37																																																																																						0.368	RP11-204M4.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000143738.1			5	59	0	0	0	1	0	5	59				
EPB41L2	2037	broad.mit.edu	37	6	131211445	131211445	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr6:131211445C>T	ENST00000337057.3	-	11	1830	c.1649G>A	c.(1648-1650)aGt>aAt	p.S550N	EPB41L2_ENST00000528282.1_Missense_Mutation_p.S550N|EPB41L2_ENST00000527411.1_Missense_Mutation_p.S550N|EPB41L2_ENST00000445890.2_Missense_Mutation_p.S550N|EPB41L2_ENST00000525193.1_Missense_Mutation_p.S550N|EPB41L2_ENST00000529208.1_Missense_Mutation_p.S550N|EPB41L2_ENST00000392427.3_Missense_Mutation_p.S550N|EPB41L2_ENST00000368128.2_Missense_Mutation_p.S550N|EPB41L2_ENST00000525271.1_Missense_Mutation_p.S550N|EPB41L2_ENST00000530481.1_Missense_Mutation_p.S550N|EPB41L2_ENST00000527659.1_Missense_Mutation_p.S550N	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	550	Hydrophilic.				cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TCCATCTAGACTCCTGGAGAC	0.453																																						ENST00000337057.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44						c.(1648-1650)aGt>aAt		erythrocyte membrane protein band 4.1-like 2							125.0	139.0	134.0					6																	131211445		2203	4300	6503	SO:0001583	missense	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131211445C>T	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.1649G>A	6.37:g.131211445C>T	ENSP00000338481:p.Ser550Asn					EPB41L2_ENST00000525271.1_Missense_Mutation_p.S550N|EPB41L2_ENST00000527659.1_Missense_Mutation_p.S550N|EPB41L2_ENST00000530481.1_Missense_Mutation_p.S550N|EPB41L2_ENST00000445890.2_Missense_Mutation_p.S550N|EPB41L2_ENST00000529208.1_Missense_Mutation_p.S550N|EPB41L2_ENST00000528282.1_Missense_Mutation_p.S550N|EPB41L2_ENST00000525193.1_Missense_Mutation_p.S550N|EPB41L2_ENST00000368128.2_Missense_Mutation_p.S550N|EPB41L2_ENST00000527411.1_Missense_Mutation_p.S550N|EPB41L2_ENST00000392427.3_Missense_Mutation_p.S550N	p.S550N	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	11	1830	-	Breast(56;0.0639)		550			Hydrophilic.		B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Missense_Mutation	SNP	ENST00000337057.3	37	c.1649G>A	CCDS5141.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.951612	0.53186	.	.	ENSG00000079819	ENST00000528282;ENST00000530481;ENST00000445890;ENST00000337057;ENST00000392427;ENST00000425439;ENST00000368128;ENST00000527411;ENST00000525271;ENST00000525193;ENST00000527659;ENST00000529208	D;D;D;D;D;D;D;D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.19	5.44	0.465	0.16711	FERM adjacent (FA) (1);	0.217332	0.56097	D	0.000038	D	0.88869	0.6554	M	0.90309	3.105	0.53005	D	0.999961	B;B;B;B;D	0.65815	0.018;0.008;0.008;0.003;0.995	B;B;B;B;P	0.62740	0.046;0.025;0.025;0.042;0.906	D	0.85411	0.1137	10	0.87932	D	0	.	3.3801	0.07251	0.2428:0.508:0.1174:0.1318	.	550;550;550;550;550	E9PHY5;B4DHI8;E9PPD9;O43491;Q68DV2	.;.;.;E41L2_HUMAN;.	N	550	ENSP00000434308:S550N;ENSP00000434576:S550N;ENSP00000402041:S550N;ENSP00000338481:S550N;ENSP00000376222:S550N;ENSP00000357110:S550N;ENSP00000436348:S550N;ENSP00000432803:S550N;ENSP00000431988:S550N;ENSP00000431647:S550N;ENSP00000436641:S550N	ENSP00000338481:S550N	S	-	2	0	EPB41L2	131253138	1.000000	0.71417	0.716000	0.30569	0.992000	0.81027	2.687000	0.46976	-0.221000	0.09973	0.555000	0.69702	AGT		0.453	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			29	137	0	0	0	1	0	29	137				
OR4C6	219432	broad.mit.edu	37	11	55433374	55433374	+	Silent	SNP	G	G	T			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr11:55433374G>T	ENST00000314259.3	+	1	761	c.732G>T	c.(730-732)gtG>gtT	p.V244V		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	244						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						ACCTCACGGTGGTTGTATTGT	0.502																																						ENST00000314259.3																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						c.(730-732)gtG>gtT		olfactory receptor, family 4, subfamily C, member 6							118.0	117.0	118.0					11																	55433374		2200	4296	6496	SO:0001819	synonymous_variant	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433374G>T	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.732G>T	11.37:g.55433374G>T							p.V244V	NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN			1	761	+			244					B2RP11|Q6IFD2	Silent	SNP	ENST00000314259.3	37	c.732G>T	CCDS31506.1																																																																																				0.502	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		47	133	1	0	6.23363e-37	1	6.90495e-37	47	133				
PROM1	8842	broad.mit.edu	37	4	15995680	15995680	+	Frame_Shift_Del	DEL	T	T	-	rs376676164		TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr4:15995680delT	ENST00000510224.1	-	16	1945	c.1697delA	c.(1696-1698)aatfs	p.N566fs	PROM1_ENST00000505450.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000508167.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000540805.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000447510.2_Frame_Shift_Del_p.N566fs|PROM1_ENST00000539194.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000543373.1_Frame_Shift_Del_p.N557fs			O43490	PROM1_HUMAN	prominin 1	566					camera-type eye photoreceptor cell differentiation (GO:0060219)|glomerular parietal epithelial cell differentiation (GO:0072139)|glomerular visceral epithelial cell differentiation (GO:0072112)|photoreceptor cell maintenance (GO:0045494)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|retina layer formation (GO:0010842)|retina morphogenesis in camera-type eye (GO:0060042)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actinin binding (GO:0042805)|cadherin binding (GO:0045296)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						AGTGCCTCTATTTTTTTTGCA	0.428																																						ENST00000505450.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						c.(1669-1671)atfs		prominin 1							189.0	187.0	188.0					4																	15995680		1901	4120	6021	SO:0001589	frameshift_variant	8842				camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding	g.chr4:15995680delT	AF027208	CCDS47029.1, CCDS54746.1, CCDS54747.1, CCDS54748.1	4p15	2013-06-06	2001-11-28	2003-03-28	ENSG00000007062	ENSG00000007062		"""CD molecules"""	9454	protein-coding gene	gene with protein product		604365	"""prominin (mouse)-like 1"", ""macular dystrophy, retinal 2"", ""Stargardt disease 4 (autosomal dominant)"""	PROML1, MCDR2, STGD4		11467842	Standard	NM_006017		Approved	AC133, CD133, RP41, CORD12	uc003goo.2	O43490	OTTHUMG00000160180	ENST00000510224.1:c.1697delA	4.37:g.15995680delT	ENSP00000426809:p.Asn566fs					PROM1_ENST00000540805.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000510224.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000539194.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000543373.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000508167.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000447510.2_Frame_Shift_Del_p.N566fs	p.N557fs	NM_001145848.1	NP_001139320.1	O43490	PROM1_HUMAN			15	2282	-			566					Q6SV49|Q6SV50|Q6SV51|Q6SV52|Q6SV53|Q96EN6	Frame_Shift_Del	DEL	ENST00000510224.1	37	c.1670delA	CCDS47029.1																																																																																				0.428	PROM1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359595.2	NM_006017		7	111						7	111	---	---	---	---
ADH1C	126	broad.mit.edu	37	4	100261040	100261041	+	RNA	INS	-	-	A	rs3216150|rs373899105	byFrequency	TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr4:100261040_100261041insA	ENST00000515683.1	-	0	1316					NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|zinc ion binding (GO:0008270)								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	AGTGCTTTCACAAAAAAAATCA	0.327													|||unknown(NO_COVERAGE)	1065	0.21266	0.0946	0.2709	5008	,	,		17244	0.0764		0.4026	False		,,,				2504	0.2761					ENST00000515683.1																			0													alcohol dehydrogenase 1C (class I), gamma polypeptide	Fomepizole(DB01213)|NADH(DB00157)																																					126				ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding	g.chr4:100261040_100261041insA	M12272		4q23	2010-03-16			ENSG00000248144	ENSG00000248144	1.1.1.1	"""Alcohol dehydrogenases"""	251	protein-coding gene	gene with protein product		103730		ADH3		3006456	Standard	NM_000669		Approved		uc031sgp.1	P00326	OTTHUMG00000161422		4.37:g.100261048_100261048dupA								NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	0	1316	-								Q4PJ18|Q5WRV0|Q6LBW4|Q6NWV0|Q6NZA7	RNA	INS	ENST00000515683.1	37																																																																																						0.327	ADH1C-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000364877.2	NM_000669		5	2						5	2	---	---	---	---
RRP36	88745	broad.mit.edu	37	6	42989414	42989419	+	In_Frame_Del	DEL	GCCGGG	GCCGGG	-	rs200886831|rs551189349|rs199544375		TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr6:42989414_42989419delGCCGGG	ENST00000244496.5	+	1	32_37	c.22_27delGCCGGG	c.(22-27)gccgggdel	p.AG14del		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	14					ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.A8_G9delAG(2)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						TAACTAccgcgccggggccggggccg	0.777																																						ENST00000244496.5																			2	Deletion - In frame(2)	p.A8_G9delAG(2)	prostate(1)|central_nervous_system(1)	NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						c.(22-27)del		ribosomal RNA processing 36 homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	88745				ribosomal small subunit biogenesis|rRNA processing	nucleolus		g.chr6:42989414_42989419delGCCGGG	BC011933	CCDS34453.1	6p21.1	2010-07-06	2010-07-06	2010-07-06	ENSG00000124541	ENSG00000124541			21374	protein-coding gene	gene with protein product		613475	"""chromosome 6 open reading frame 153"""	C6orf153		20038530	Standard	NM_033112		Approved	dJ20C7.4	uc003otp.1	Q96EU6	OTTHUMG00000014715	ENST00000244496.5:c.22_27delGCCGGG	6.37:g.42989420_42989425delGCCGGG	ENSP00000244496:p.Ala14_Gly15del						p.AG14del	NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN			1	32_37	+			14					Q9BRF6|Q9P0C8	In_Frame_Del	DEL	ENST00000244496.5	37	c.22_27delGCCGGG	CCDS34453.1																																																																																				0.777	RRP36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040572.1	NM_033112		4	4						4	4	---	---	---	---
TNRC18	84629	broad.mit.edu	37	7	5430008	5430011	+	Intron	DEL	AAAG	AAAG	-	rs34840801|rs368909449|rs377539951|rs373103246		TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr7:5430008_5430011delAAAG	ENST00000430969.1	-	4	836				TNRC18_ENST00000399537.4_Intron|TNRC18_ENST00000399434.2_Frame_Shift_Del_p.LF124fs	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18								chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		aaaaaaaaaaaaaGCCAGCATCCT	0.544																																						ENST00000399434.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(370-375)ttfs		trinucleotide repeat containing 18																																				SO:0001627	intron_variant	84629						DNA binding	g.chr7:5430008_5430011delAAAG	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.487+104CTTT>-	7.37:g.5430008_5430011delAAAG						TNRC18_ENST00000399537.4_Intron|TNRC18_ENST00000430969.1_Intron	p.LF124fs			O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	3	528_531	-		Ovarian(82;0.142)	0					A8MX41|Q96JH1|Q96K91	Frame_Shift_Del	DEL	ENST00000430969.1	37	c.370_373delCTTT	CCDS47534.1																																																																																				0.544	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				3	6						3	6	---	---	---	---
NPIPA8	101059953	broad.mit.edu	37	16	18441114	18441116	+	Splice_Site	DEL	CAC	CAC	-			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr16:18441114_18441116delCAC	ENST00000339303.5	-	1	15		c.e1+1					P0DM63	NPIA8_HUMAN	nuclear pore complex interacting protein family, member A8																		CGGCCATACTCACCACTGGGACT	0.709																																						ENST00000339303.5																			0											c.e1+1		nuclear pore complex interacting protein family, member A8																																				SO:0001630	splice_region_variant	101059953							g.chr16:18441114_18441116delCAC		CCDS61865.1	16p12.3	2013-06-11			ENSG00000214940	ENSG00000214940			41983	protein-coding gene	gene with protein product	"""morpheus gene family member 9"""					11586358	Standard	NM_001282511		Approved	LCR16a9		P0DM63	OTTHUMG00000166284	ENST00000339303.5:c.4043+1GTG>-	16.37:g.18441117_18441119delCAC														1	15	-									Splice_Site	DEL	ENST00000339303.5	37																																																																																						0.709	NPIPA8-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			Intron	5	10						5	10	---	---	---	---
SNX29P2	440352	broad.mit.edu	37	16	29269502	29269502	+	lincRNA	DEL	C	C	-			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr16:29269502delC	ENST00000398878.3	+	0	214							Q8IUI4	S29P2_HUMAN	sorting nexin 29 pseudogene 2																		ACAAGCCCTTCCCGGGCTGGA	0.577																																						ENST00000398878.3																			0																																																			0							g.chr16:29269502delC	BX648280		16p11.2	2014-03-21	2011-08-16	2011-08-16	ENSG00000198106	ENSG00000198106			31914	pseudogene	pseudogene			"""RUN domain containing 2C"""	RUNDC2C			Standard	NR_002939		Approved		uc021tfw.1	Q8IUI4			16.37:g.29269502delC														0	214	+									RNA	DEL	ENST00000398878.3	37																																																																																						0.577	SNX29P2-202	KNOWN	basic	lincRNA	lincRNA		NR_002939		2	4						2	4	---	---	---	---
MLLT6	4302	broad.mit.edu	37	17	36861701	36861703	+	5'Flank	DEL	GAG	GAG	-			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr17:36861701_36861703delGAG	ENST00000325718.7	+	0	0				CTB-58E17.1_ENST00000563897.1_lincRNA|MLLT6_ENST00000378137.5_5'Flank|CTB-58E17.3_ENST00000583409.1_RNA	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6						regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					CAGAGCGAGCgaggaggaggagg	0.734			T	MLL	AL																																	ENST00000583409.1				Dom	yes		17	17q21	4302		"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17)"""			L					0																																																	SO:0001631	upstream_gene_variant	0							g.chr17:36861701_36861703delGAG		CCDS11327.1	17q21	2014-04-10	2001-11-28		ENSG00000108292	ENSG00000275023		"""Zinc fingers, PHD-type"""	7138	protein-coding gene	gene with protein product	"""Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6"", ""trithorax homolog"""	600328	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6"""			8058765	Standard	NM_005937		Approved	AF17, FLJ23480	uc002hqi.4	P55198	OTTHUMG00000188498		17.37:g.36861710_36861712delGAG	Exception_encountered													0	208	-								Q59F28|Q96IU3|Q9H5F6|Q9UF49	RNA	DEL	ENST00000325718.7	37		CCDS11327.1																																																																																				0.734	MLLT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256799.1	NM_005937		2	4						2	4	---	---	---	---
