#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
FLG	2312	broad.mit.edu	37	1	152276467	152276468	+	In_Frame_Ins	INS	-	-	GGA			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr1:152276467_152276468insGGA	ENST00000368799.1	-	3	10929_10930	c.10894_10895insTCC	c.(10894-10896)cag>cTCCag	p.3631_3632insL	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3631	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)			GTCTGCTGACTGCTGGTGGTGG	0.554									Ichthyosis																													uc001ezu.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.(10894-10896)cag>cTCCag		Homo sapiens filaggrin (FLG), mRNA.																																				SO:0001652	inframe_insertion	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.chr1:152276467_152276468insGGA	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.10894_10895insTCC	1.37:g.152276467_152276468insGGA	ENSP00000357789:p.Gln3631_Gln3632insLeu						p.3631_3632insL	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	10930_10931	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3631			Ser-rich.		Q01720|Q5T583|Q9UC71	In_Frame_Ins	INS	ENST00000368799.1	37	c.10894_10895insTCC	CCDS30860.1																																																																																				0.554	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
TDRD10	126668	broad.mit.edu	37	1	154516937	154516937	+	Silent	SNP	C	C	T	rs151222618		TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr1:154516937C>T	ENST00000368480.3	+	10	826	c.741C>T	c.(739-741)cgC>cgT	p.R247R	TDRD10_ENST00000479937.1_3'UTR|TDRD10_ENST00000368482.4_Silent_p.R247R			Q5VZ19	TDR10_HUMAN	tudor domain containing 10	247	Tudor.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCGTTATGCGCGGGACTCGCT	0.632													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18663	0.0		0.0	False		,,,				2504	0.0					uc009wow.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(739-741)cgC>cgT		Homo sapiens tudor domain containing 10 (TDRD10), transcript variant 1, mRNA.		C	,	4,4402	8.1+/-20.4	0,4,2199	35.0	33.0	34.0		741,741	-6.3	0.0	1	dbSNP_134	34	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	TDRD10	NM_001098475.1,NM_182499.3	,	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	,	247/367,247/352	154516937	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	126668						nucleotide binding|RNA binding	g.chr1:154516937C>T	AL713777	CCDS30878.2, CCDS41406.1	1q21.3	2013-02-12			ENSG00000163239	ENSG00000163239		"""Tudor domain containing"", ""RNA binding motif (RRM) containing"""	25316	protein-coding gene	gene with protein product						12975309	Standard	NM_182499		Approved	DKFZp434M202	uc009wow.3	Q5VZ19	OTTHUMG00000037264	ENST00000368480.3:c.741C>T	1.37:g.154516937C>T						TDRD10_uc001ffd.3_Silent_p.R247R|TDRD10_uc001ffe.3_Silent_p.R168R	p.R247R	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		9	1579	+	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		247			Tudor.		A4FU09|B0QZ53|B4DXV4|Q3ZCP1|Q3ZCS7|Q5SXY7|Q6UXV2|Q8TCN3	Silent	SNP	ENST00000368480.3	37	c.741C>T	CCDS41406.1																																																																																				0.632	TDRD10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090700.2	NM_182499	
LY9	4063	broad.mit.edu	37	1	160784327	160784327	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr1:160784327T>G	ENST00000263285.6	+	4	878	c.848T>G	c.(847-849)tTg>tGg	p.L283W	LY9_ENST00000392203.4_Missense_Mutation_p.L283W|LY9_ENST00000368037.5_Missense_Mutation_p.L283W|LY9_ENST00000368041.2_Missense_Mutation_p.L243W|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000341032.4_Missense_Mutation_p.L283W|LY9_ENST00000368040.1_5'UTR			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	283	Ig-like V-type 2.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GTTGTCTGGTTGTTTAACACA	0.547																																						uc001fwu.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(847-849)tTg>tGg		Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.							109.0	98.0	102.0					1																	160784327		2203	4300	6503	SO:0001583	missense	4063				cell adhesion|immunoglobulin mediated immune response	integral to membrane		g.chr1:160784327T>G	L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.848T>G	1.37:g.160784327T>G	ENSP00000263285:p.Leu283Trp					LY9_uc010pjs.1_Missense_Mutation_p.L283W|LY9_uc001fwv.3_Missense_Mutation_p.L283W|LY9_uc001fww.3_Missense_Mutation_p.L283W|LY9_uc001fwy.1_Missense_Mutation_p.L185W|LY9_uc001fwz.3_5'UTR	p.L283W	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		3	898	+	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		283			Ig-like V-type 2.		A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Missense_Mutation	SNP	ENST00000263285.6	37	c.848T>G	CCDS30916.1	.	.	.	.	.	.	.	.	.	.	T	14.82	2.650325	0.47362	.	.	ENSG00000122224	ENST00000368041;ENST00000341032;ENST00000263285;ENST00000542780;ENST00000392203;ENST00000368037;ENST00000368036	T;T	0.01705	4.68;4.68	3.8	1.43	0.22495	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00998	0.0033	L	0.38175	1.15	0.41381	D	0.98755	P;P;P;D;D;P	0.59357	0.953;0.953;0.889;0.985;0.973;0.953	B;B;B;P;P;B	0.50192	0.43;0.43;0.173;0.527;0.634;0.43	T	0.64748	-0.6334	9	0.72032	D	0.01	-1.8261	2.5551	0.04758	0.2339:0.1273:0.0:0.6388	.	283;243;243;283;283;283	B4E0J5;Q5VYH7;Q5VYH9;E7EME5;Q9HBG7-2;Q9HBG7	.;.;.;.;.;LY9_HUMAN	W	283;283;283;283;243;243;185	ENSP00000342921:L283W;ENSP00000263285:L283W	ENSP00000263285:L283W	L	+	2	0	LY9	159050951	0.008000	0.16893	0.564000	0.28396	0.382000	0.30200	0.286000	0.18902	0.550000	0.28991	0.460000	0.39030	TTG		0.547	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060457.3	NM_002348	
CR2	1380	broad.mit.edu	37	1	207647215	207647215	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr1:207647215C>T	ENST00000367058.3	+	11	2237	c.2048C>T	c.(2047-2049)aCg>aTg	p.T683M	CR2_ENST00000458541.2_Missense_Mutation_p.T656M|CR2_ENST00000367059.3_Missense_Mutation_p.T683M|CR2_ENST00000367057.3_Missense_Mutation_p.T742M	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	683	Sushi 11. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CTAGTTAATACGTCCTGCCAA	0.438																																						uc001hfw.3																			0				NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						c.(2047-2049)aCg>aTg		Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.							104.0	99.0	101.0					1																	207647215		2203	4300	6503	SO:0001583	missense	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207647215C>T	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.2048C>T	1.37:g.207647215C>T	ENSP00000356025:p.Thr683Met					CR2_uc001hfv.3_Missense_Mutation_p.T742M|CR2_uc009xch.3_Missense_Mutation_p.T683M	p.T683M	NM_001877	NP_001868	P20023	CR2_HUMAN			10	2167	+			683			Sushi 11.		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	37	c.2048C>T	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	C	9.419	1.082474	0.20309	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	5.66	-1.05	0.10036	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.43590	0.1254	N	0.22421	0.69	0.09310	N	1	B;B;B	0.25563	0.129;0.115;0.061	B;B;B	0.27608	0.081;0.078;0.063	T	0.37478	-0.9704	9	0.66056	D	0.02	.	5.3338	0.15947	0.0:0.4117:0.147:0.4413	.	683;683;742	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	M	683;742;683;656	ENSP00000356025:T683M;ENSP00000356024:T742M;ENSP00000356026:T683M;ENSP00000404222:T656M	ENSP00000356024:T742M	T	+	2	0	CR2	205713838	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.072000	0.03434	-0.215000	0.10063	-0.137000	0.14449	ACG		0.438	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877	
ACBD3	64746	broad.mit.edu	37	1	226347010	226347010	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr1:226347010G>C	ENST00000366812.5	-	5	832	c.778C>G	c.(778-780)Cag>Gag	p.Q260E	ACBD3_ENST00000464927.1_Intron	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	260	Gln-rich.				steroid biosynthetic process (GO:0006694)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		GCTGCATACTGCTGGAACTGC	0.448																																						uc001hpy.3																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20						c.(778-780)Cag>Gag		Homo sapiens acyl-CoA binding domain containing 3 (ACBD3), mRNA.							183.0	156.0	165.0					1																	226347010		2203	4300	6503	SO:0001583	missense	64746				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding	g.chr1:226347010G>C	AB043587	CCDS1551.1	1q41	2013-10-16	2010-04-30	2003-11-12	ENSG00000182827	ENSG00000182827		"""A-kinase anchor proteins"""	15453	protein-coding gene	gene with protein product	"""PBR- and PKA-associated protein 7"""	606809	"""golgi complex associated protein 1, 60kDa"", ""acyl-Coenzyme A binding domain containing 3"""	GOLPH1, GOCAP1		12692076, 20150326	Standard	NM_022735		Approved	GCP60, PAP7	uc001hpy.3	Q9H3P7	OTTHUMG00000037560	ENST00000366812.5:c.778C>G	1.37:g.226347010G>C	ENSP00000355777:p.Gln260Glu						p.Q260E	NM_022735	NP_073572	Q9H3P7	GCP60_HUMAN		GBM - Glioblastoma multiforme(131;0.121)	4	825	-	Breast(184;0.158)		260			Gln-rich.		B2RB29|Q5VTJ0|Q6P9F1|Q8IZC5|Q8N4D6|Q9H6U3	Missense_Mutation	SNP	ENST00000366812.5	37	c.778C>G	CCDS1551.1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.421622	0.25639	.	.	ENSG00000182827	ENST00000366812	T	0.21191	2.02	5.73	5.73	0.89815	.	0.054976	0.85682	D	0.000000	T	0.26557	0.0649	M	0.64630	1.985	0.80722	D	1	P	0.47762	0.9	B	0.44224	0.444	T	0.08513	-1.0718	10	0.06236	T	0.91	-19.032	19.8989	0.96978	0.0:0.0:1.0:0.0	.	260	Q9H3P7	GCP60_HUMAN	E	260	ENSP00000355777:Q260E	ENSP00000355777:Q260E	Q	-	1	0	ACBD3	224413633	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.397000	0.97276	2.706000	0.92434	0.555000	0.69702	CAG		0.448	ACBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091528.1	NM_022735	
NUP133	55746	broad.mit.edu	37	1	229577744	229577744	+	Silent	SNP	T	T	C			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr1:229577744T>C	ENST00000261396.3	-	26	3469	c.3378A>G	c.(3376-3378)ctA>ctG	p.L1126L	RP5-1068B5.3_ENST00000434311.1_lincRNA|NUP133_ENST00000537506.1_Silent_p.L1110L	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	1126					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				GATCCGCTTGTAGCAGGTCTT	0.343																																						uc001htn.3																			0				NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56						c.(3376-3378)ctA>ctG		Homo sapiens nucleoporin 133kDa (NUP133), mRNA.							91.0	101.0	98.0					1																	229577744		2203	4300	6503	SO:0001819	synonymous_variant	55746				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr1:229577744T>C		CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"""nucleoporin 133kD"""			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.3378A>G	1.37:g.229577744T>C							p.L1126L	NM_018230	NP_060700	Q8WUM0	NU133_HUMAN			25	3470	-	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)	1126					B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Silent	SNP	ENST00000261396.3	37	c.3378A>G	CCDS1579.1																																																																																				0.343	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230	
OR13G1	441933	broad.mit.edu	37	1	247836129	247836129	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr1:247836129G>T	ENST00000359688.2	-	1	236	c.215C>A	c.(214-216)aCa>aAa	p.T72K	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	72						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TATGATGCTTGTTGTGCAGAT	0.443																																						uc001idi.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35						c.(214-216)aCa>aAa		Homo sapiens olfactory receptor, family 13, subfamily G, member 1 (OR13G1), mRNA.							87.0	64.0	72.0					1																	247836129		2203	4300	6503	SO:0001583	missense	441933				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247836129G>T	AB065623	CCDS31094.1	1q44	2012-08-09			ENSG00000197437	ENSG00000197437		"""GPCR / Class A : Olfactory receptors"""	14999	protein-coding gene	gene with protein product		611677					Standard	NM_001005487		Approved		uc001idi.1	Q8NGZ3	OTTHUMG00000040212	ENST00000359688.2:c.215C>A	1.37:g.247836129G>T	ENSP00000352717:p.Thr72Lys						p.T72K	NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		0	215	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		72					B2RN80|Q5T2T2|Q6IF86	Missense_Mutation	SNP	ENST00000359688.2	37	c.215C>A	CCDS31094.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.634270	0.67130	.	.	ENSG00000197437	ENST00000359688	T	0.00397	7.57	4.16	2.17	0.27698	GPCR, rhodopsin-like superfamily (1);	0.342273	0.21321	N	0.076466	T	0.00552	0.0018	H	0.95712	3.71	0.09310	N	1	B	0.32893	0.389	B	0.29598	0.104	T	0.31586	-0.9938	10	0.87932	D	0	-18.4512	8.5043	0.33177	0.0:0.1688:0.6566:0.1746	.	72	Q8NGZ3	O13G1_HUMAN	K	72	ENSP00000352717:T72K	ENSP00000352717:T72K	T	-	2	0	OR13G1	245902752	0.023000	0.18921	0.001000	0.08648	0.881000	0.50899	1.957000	0.40392	0.471000	0.27319	0.558000	0.71614	ACA		0.443	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096869.1	NM_001005487	
OR2L8	391190	broad.mit.edu	37	1	248112665	248112665	+	Missense_Mutation	SNP	G	G	A	rs565612069		TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr1:248112665G>A	ENST00000357191.3	+	1	506	c.506G>A	c.(505-507)cGa>cAa	p.R169Q	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	169						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CCTTATTGCCGATCCAGGGCC	0.478													G|||	1	0.000199681	0.0	0.0	5008	,	,		23016	0.001		0.0	False		,,,				2504	0.0					uc001idt.1																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42						c.(505-507)cGa>cAa		Homo sapiens olfactory receptor, family 2, subfamily L, member 8 (OR2L8), mRNA.							228.0	148.0	175.0					1																	248112665		2203	4300	6503	SO:0001583	missense	391190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248112665G>A	BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"""GPCR / Class A : Olfactory receptors"""	15014	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily L, member 8"""				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.506G>A	1.37:g.248112665G>A	ENSP00000349719:p.Arg169Gln					OR2L13_uc001ids.3_Intron	p.R169Q	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		0	506	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		169					Q6IF03	Missense_Mutation	SNP	ENST00000357191.3	37	c.506G>A	CCDS31101.1	.	.	.	.	.	.	.	.	.	.	.	7.265	0.606008	0.14002	.	.	ENSG00000196936	ENST00000357191	T	0.37411	1.2	1.79	0.818	0.18778	GPCR, rhodopsin-like superfamily (1);	1.479880	0.05398	N	0.540099	T	0.25791	0.0628	L	0.33485	1.01	0.09310	N	1	B	0.12630	0.006	B	0.18871	0.023	T	0.25710	-1.0124	10	0.31617	T	0.26	.	3.7289	0.08485	0.2532:0.2372:0.5096:0.0	.	169	Q8NGY9	OR2L8_HUMAN	Q	169	ENSP00000349719:R169Q	ENSP00000349719:R169Q	R	+	2	0	OR2L8	246179288	0.000000	0.05858	0.754000	0.31244	0.859000	0.49053	0.015000	0.13355	1.005000	0.39183	0.479000	0.44913	CGA		0.478	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2		
ANXA8L1	728113	broad.mit.edu	37	10	47158869	47158869	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr10:47158869C>T	ENST00000359178.4	-	12	1073	c.952G>A	c.(952-954)Gcc>Acc	p.A318T	ANXA8L1_ENST00000358140.4_Missense_Mutation_p.A267T|ANXA8L1_ENST00000414655.2_Missense_Mutation_p.A256T|ANXA8L1_ENST00000545298.1_3'UTR	NM_001098845.1	NP_001092315	Q5T2P8	AXA81_HUMAN	annexin A8-like 1	318							calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)			large_intestine(1)|lung(1)	2						CTCAGCAGGGCGTTCTTGTAG	0.597																																						uc010qfr.2																			0				large_intestine(1)|lung(1)	2						c.(1264-1266)Gcc>Acc		Homo sapiens annexin A8-like 1 (ANXA8L1), mRNA.							100.0	77.0	85.0					10																	47158869		2192	4082	6274	SO:0001583	missense	653145						calcium ion binding|calcium-dependent phospholipid binding	g.chr10:47158869C>T		CCDS73097.1, CCDS73098.1, CCDS73099.1	10q11.22	2014-06-19			ENSG00000150165			"""Annexins"""	23334	protein-coding gene	gene with protein product			"""annexin A8-like 2"""	ANXA8L2			Standard	NM_001098845		Approved	bA301J7.3, bA145E20.2		Q5T2P8	OTTHUMG00000018114	ENST00000359178.4:c.952G>A	10.37:g.47158869C>T	ENSP00000352101:p.Ala318Thr					ANXA8L1_uc001jed.4_Intron|ANXA8L1_uc001jeh.3_Missense_Mutation_p.A318T|ANXA8L1_uc010qfs.2_Missense_Mutation_p.A322T|ANXA8L1_uc010qft.2_Non-coding_Transcript|ANXA8L1_uc010qfu.1_Missense_Mutation_p.A139T	p.A422T	NM_001098845	NP_001092315	Q5T2P8	AXA81_HUMAN			11	1270	-			318					A6NDE6|B4DKI1	Missense_Mutation	SNP	ENST00000359178.4	37	c.1264G>A	CCDS41511.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.108457	0.56291	.	.	ENSG00000150165	ENST00000358140;ENST00000359178;ENST00000414655	T;T;T	0.03689	3.84;3.84;3.84	4.16	4.16	0.48862	Annexin repeat, conserved site (1);	0.000000	0.56097	D	0.000026	T	0.12008	0.0292	L	0.52266	1.64	0.80722	D	1	P;P;P;D	0.89917	0.937;0.928;0.815;1.0	P;P;P;D	0.85130	0.572;0.513;0.513;0.997	T	0.04413	-1.0953	10	0.36615	T	0.2	.	12.3158	0.54955	0.0:1.0:0.0:0.0	.	267;384;318;318	Q5T2P7;B4DQE1;B2R939;Q5T2P8	.;.;.;AXA81_HUMAN	T	267;318;256	ENSP00000350859:A267T;ENSP00000352101:A318T;ENSP00000415523:A256T	ENSP00000350859:A267T	A	-	1	0	ANXA8L1	46578875	0.176000	0.23096	0.956000	0.39512	0.647000	0.38526	2.008000	0.40893	2.022000	0.59522	0.430000	0.28490	GCC		0.597	ANXA8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047843.1		
ANO5	203859	broad.mit.edu	37	11	22291884	22291884	+	Missense_Mutation	SNP	G	G	A	rs199532484		TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr11:22291884G>A	ENST00000324559.8	+	18	2242	c.1925G>A	c.(1924-1926)cGa>cAa	p.R642Q		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	642					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGGAGACGCCGAAAAGCTCGG	0.413													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18223	0.0		0.0	False		,,,				2504	0.0					uc001mqi.2																			0				breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1924-1926)cGa>cAa		Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA.							111.0	111.0	111.0					11																	22291884		2203	4300	6503	SO:0001583	missense	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22291884G>A	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.1925G>A	11.37:g.22291884G>A	ENSP00000315371:p.Arg642Gln					ANO5_uc001mqj.2_Missense_Mutation_p.R641Q	p.R642Q	NM_213599	NP_998764	Q75V66	ANO5_HUMAN			17	2242	+			642						Missense_Mutation	SNP	ENST00000324559.8	37	c.1925G>A	CCDS31444.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	36	5.668894	0.96754	.	.	ENSG00000171714	ENST00000324559	T	0.63744	-0.06	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.80341	0.4605	M	0.82923	2.615	0.80722	D	1	D	0.64830	0.994	D	0.63703	0.917	T	0.78957	-0.1999	10	0.37606	T	0.19	.	19.8505	0.96738	0.0:0.0:1.0:0.0	.	642	Q75V66	ANO5_HUMAN	Q	642	ENSP00000315371:R642Q	ENSP00000315371:R642Q	R	+	2	0	ANO5	22248460	1.000000	0.71417	0.974000	0.42286	0.976000	0.68499	7.770000	0.85390	2.688000	0.91661	0.655000	0.94253	CGA		0.413	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599	
DCDC1	341019	broad.mit.edu	37	11	30953328	30953328	+	De_novo_Start_OutOfFrame	SNP	G	G	A	rs150997514	byFrequency	TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr11:30953328G>A	ENST00000406071.2	-	0	523				DCDC1_ENST00000597505.1_Missense_Mutation_p.R963W|DCDC1_ENST00000339794.5_Missense_Mutation_p.R42W|DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1						intracellular signal transduction (GO:0035556)			p.R42W(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TGCGTTTTCCGTCCAGGTGAG	0.378																																						uc009yjk.1																			2	Substitution - Missense(2)	p.R42W(2)	breast(1)|endometrium(1)	NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1)	31						c.(1231-1233)Cgg>Tgg		Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA.		G	TRP/ARG	1,4403	2.1+/-5.4	0,1,2201	75.0	70.0	72.0		208	-1.7	0.0	11	dbSNP_134	72	9,8589	7.1+/-27.0	0,9,4290	yes	missense	DCDC5	NM_020869.3	101	0,10,6491	AA,AG,GG		0.1047,0.0227,0.0769	benign	70/891	30953328	10,12992	2202	4299	6501			100506627				intracellular signal transduction			g.chr11:30953328G>A	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000406071.2:c.-909C>T	11.37:g.30953328G>A						DCDC5_uc021qfk.1_Missense_Mutation_p.R70W|DCDC5_uc009yjl.1_3'UTR	p.R411W	NM_020869	NP_065920	Q6ZRR9	DCDC5_HUMAN			9	1300	-			42					A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	ENST00000406071.2	37	c.1231C>T		.	.	.	.	.	.	.	.	.	.	G	13.95	2.390902	0.42410	2.27E-4	0.001047	ENSG00000170959	ENST00000339794;ENST00000437348	D	0.93133	-3.17	4.62	-1.73	0.08081	Doublecortin domain (3);	1.035210	0.07665	N	0.934466	T	0.82098	0.4963	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.68685	-0.5343	10	0.48119	T	0.1	6.2555	2.7322	0.05230	0.2488:0.1325:0.4856:0.133	.	42	Q6ZRR9	DCDC5_HUMAN	W	42	ENSP00000341700:R42W	ENSP00000341700:R42W	R	-	1	2	DCDC5	30909904	0.000000	0.05858	0.004000	0.12327	0.694000	0.40290	-1.457000	0.02374	-0.378000	0.07918	-1.360000	0.01215	CGG		0.378	DCDC1-202	KNOWN	basic	protein_coding	protein_coding		NM_181807	
GDPD4	220032	broad.mit.edu	37	11	76956338	76956338	+	Silent	SNP	G	G	A			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr11:76956338G>A	ENST00000376217.2	-	11	1324	c.1074C>T	c.(1072-1074)atC>atT	p.I358I	GDPD4_ENST00000315938.4_Silent_p.I358I			Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	358	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						GATGTTGCTCGATTTTAGAGG	0.438																																						uc001oyf.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						c.(1072-1074)atC>atT		Homo sapiens glycerophosphodiester phosphodiesterase domain containing 4 (GDPD4), mRNA.							185.0	164.0	171.0					11																	76956338		2200	4292	6492	SO:0001819	synonymous_variant	220032				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	g.chr11:76956338G>A	AY326450	CCDS8249.1	11q13.5	2008-02-05			ENSG00000178795	ENSG00000178795			24849	protein-coding gene	gene with protein product							Standard	NM_182833		Approved	GDE6	uc001oyf.3	Q6W3E5	OTTHUMG00000165136	ENST00000376217.2:c.1074C>T	11.37:g.76956338G>A							p.I358I	NM_182833	NP_878253	Q6W3E5	GDPD4_HUMAN			10	1325	-			358			GDPD.		Q7Z5B0	Silent	SNP	ENST00000376217.2	37	c.1074C>T																																																																																					0.438	GDPD4-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382075.1	NM_182833	
GRM5	2915	broad.mit.edu	37	11	88338071	88338071	+	Silent	SNP	G	G	A			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr11:88338071G>A	ENST00000305447.4	-	4	1358	c.1209C>T	c.(1207-1209)gcC>gcT	p.A403A	GRM5_ENST00000305432.5_Silent_p.A403A|GRM5_ENST00000418177.2_Silent_p.A403A|GRM5_ENST00000455756.2_Silent_p.A403A|GRM5_ENST00000393297.1_Silent_p.A403A	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	403					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	TCGAATAGATGGCGTTGATCA	0.458																																						uc001pcq.3																			0				NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(1207-1209)gcC>gcT		Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA.	Acamprosate(DB00659)						101.0	86.0	91.0					11																	88338071		2201	4299	6500	SO:0001819	synonymous_variant	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88338071G>A	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.1209C>T	11.37:g.88338071G>A						GRM5_uc009yvm.3_Silent_p.A403A	p.A403A	NM_001143831	NP_001137303	P41594	GRM5_HUMAN			3	1409	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	403					Q6J164	Silent	SNP	ENST00000305447.4	37	c.1209C>T	CCDS44694.1																																																																																				0.458	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842	
NAALAD2	10003	broad.mit.edu	37	11	89902152	89902152	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr11:89902152C>G	ENST00000534061.1	+	12	1564	c.1334C>G	c.(1333-1335)tCt>tGt	p.S445C	NAALAD2_ENST00000321955.4_Missense_Mutation_p.S412C|NAALAD2_ENST00000375944.3_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	445	NAALADase.				neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TCGGATTCATCTATAGAAGGT	0.294																																						uc001pdf.4																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59						c.(1333-1335)tCt>tGt		Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA.							51.0	55.0	53.0					11																	89902152		2201	4293	6494	SO:0001583	missense	10003				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	g.chr11:89902152C>G	AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase III"""	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.1334C>G	11.37:g.89902152C>G	ENSP00000432481:p.Ser445Cys					NAALAD2_uc009yvx.3_Missense_Mutation_p.S412C|NAALAD2_uc009yvy.3_Intron	p.S445C	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN			11	1443	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	445			NAALADase.		B3KQR4|Q4KKV4|Q4VAM9	Missense_Mutation	SNP	ENST00000534061.1	37	c.1334C>G	CCDS8288.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998961	0.74818	.	.	ENSG00000077616	ENST00000534061;ENST00000321955	T;T	0.49720	0.77;0.77	5.75	4.83	0.62350	Peptidase M28 (1);	0.418299	0.25161	N	0.032669	T	0.65873	0.2733	M	0.70595	2.14	0.80722	D	1	D	0.59357	0.985	P	0.61874	0.895	T	0.67488	-0.5658	9	.	.	.	-10.8484	16.8247	0.85927	0.0:0.8713:0.1287:0.0	.	445	Q9Y3Q0	NALD2_HUMAN	C	445;412	ENSP00000432481:S445C;ENSP00000320083:S412C	.	S	+	2	0	NAALAD2	89541800	1.000000	0.71417	0.994000	0.49952	0.982000	0.71751	5.092000	0.64511	1.427000	0.47276	0.650000	0.86243	TCT		0.294	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	NM_005467	
APOF	319	broad.mit.edu	37	12	56755752	56755752	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr12:56755752C>G	ENST00000398189.3	-	2	315	c.238G>C	c.(238-240)Gcc>Ccc	p.A80P	APOF_ENST00000541105.1_Missense_Mutation_p.A62P|STAT2_ENST00000557235.1_5'Flank|STAT2_ENST00000418572.2_5'Flank|STAT2_ENST00000314128.4_5'Flank	NM_001638.2	NP_001629.1	Q13790	APOF_HUMAN	apolipoprotein F	80					cholesterol efflux (GO:0033344)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|high-density lipoprotein particle (GO:0034364)|low-density lipoprotein particle (GO:0034362)	cholesterol binding (GO:0015485)|lipid transporter activity (GO:0005319)|receptor binding (GO:0005102)			breast(1)|lung(3)|prostate(1)|stomach(1)	6						GGTAGAGGGGCCATGTGGCTG	0.547																																						uc001sle.1																			0				breast(1)|lung(3)|prostate(1)|stomach(1)	6						c.(238-240)Gcc>Ccc		Homo sapiens apolipoprotein F (APOF), mRNA.							70.0	73.0	72.0					12																	56755752		2043	4189	6232	SO:0001583	missense	319				cholesterol metabolic process	high-density lipoprotein particle|low-density lipoprotein particle	cholesterol binding|lipid transporter activity|receptor binding	g.chr12:56755752C>G	L27050	CCDS44923.1	12q13	2013-01-24				ENSG00000175336		"""Apolipoproteins"""	615	protein-coding gene	gene with protein product		107760				8093033	Standard	NM_001638		Approved		uc001sle.1	Q13790		ENST00000398189.3:c.238G>C	12.37:g.56755752C>G	ENSP00000381250:p.Ala80Pro						p.A80P	NM_001638	NP_001629	Q13790	APOF_HUMAN			1	292	-			80					Q8TC13	Missense_Mutation	SNP	ENST00000398189.3	37	c.238G>C	CCDS44923.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.158033	0.38119	.	.	ENSG00000175336	ENST00000398189;ENST00000541105	T;T	0.58652	0.32;0.32	4.76	2.89	0.33648	.	0.429687	0.17340	N	0.177776	T	0.37461	0.1004	N	0.20401	0.57	0.24328	N	0.995018	B	0.32800	0.385	B	0.33295	0.161	T	0.15896	-1.0421	10	0.32370	T	0.25	-8.8255	6.2269	0.20714	0.0:0.6993:0.1984:0.1022	.	80	Q13790	APOF_HUMAN	P	80;62	ENSP00000381250:A80P;ENSP00000440997:A62P	ENSP00000381250:A80P	A	-	1	0	APOF	55042019	0.750000	0.28316	0.998000	0.56505	0.996000	0.88848	0.182000	0.16900	0.707000	0.31934	0.650000	0.86243	GCC		0.547	APOF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410076.1		
R3HDM2	22864	broad.mit.edu	37	12	57674205	57674207	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr12:57674205_57674207delTGC	ENST00000347140.3	-	14	1626_1628	c.1236_1238delGCA	c.(1234-1239)cagcaa>caa	p.412_413QQ>Q	RP11-123K3.4_ENST00000548184.1_3'UTR|R3HDM2_ENST00000358907.2_In_Frame_Del_p.412_413QQ>Q|R3HDM2_ENST00000403821.2_In_Frame_Del_p.412_413QQ>Q|R3HDM2_ENST00000402412.1_In_Frame_Del_p.426_427QQ>Q|R3HDM2_ENST00000441731.2_In_Frame_Del_p.73_74QQ>Q|R3HDM2_ENST00000413953.2_In_Frame_Del_p.139_140QQ>Q			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	412	Gln-rich.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						AGCAGGAAGTtgctgctgctgct	0.576																																						uc009zpm.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(1234-1239)cagcaa>caa		Homo sapiens R3H domain containing 2 (R3HDM2), mRNA.																																				SO:0001651	inframe_deletion	22864					nucleus	nucleic acid binding	g.chr12:57674205_57674207delTGC	AB023219	CCDS8937.2	12q13.3	2012-11-19			ENSG00000179912	ENSG00000179912			29167	protein-coding gene	gene with protein product							Standard	NM_014925		Approved	KIAA1002	uc009zpm.1	Q9Y2K5	OTTHUMG00000171568	ENST00000347140.3:c.1236_1238delGCA	12.37:g.57674214_57674216delTGC	ENSP00000317903:p.Gln413del					R3HDM2_uc010srn.1_Non-coding_Transcript|R3HDM2_uc001snu.2_In_Frame_Del_p.73_74QQ>Q|R3HDM2_uc001snr.2_In_Frame_Del_p.139_140QQ>Q|R3HDM2_uc001sns.2_In_Frame_Del_p.412_413QQ>Q|R3HDM2_uc001snt.2_In_Frame_Del_p.426_427QQ>Q	p.412_413QQ>Q	NM_014925	NP_055740	Q9Y2K5	R3HD2_HUMAN			11	1271_1273	-			412			Gln-rich.		Q2M1T9|Q3ZCT5	In_Frame_Del	DEL	ENST00000347140.3	37	c.1236_1238delGCA	CCDS8937.2																																																																																				0.576	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326570.2	NM_014925	
MDM1	56890	broad.mit.edu	37	12	68716856	68716856	+	Silent	SNP	C	C	T			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr12:68716856C>T	ENST00000303145.7	-	5	884	c.798G>A	c.(796-798)agG>agA	p.R266R	MDM1_ENST00000540418.1_5'UTR|MDM1_ENST00000545724.1_5'Flank|MDM1_ENST00000411698.2_Silent_p.R221R	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	266					retina development in camera-type eye (GO:0060041)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		TGAATACCTTCCTTTCAGGAG	0.328																																						uc001stz.2																			0		p.R266G(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33						c.(796-798)agG>agA		Homo sapiens Mdm1 nuclear protein homolog (mouse) (MDM1), transcript variant 1, mRNA.							140.0	135.0	137.0					12																	68716856		2202	4300	6502	SO:0001819	synonymous_variant	56890					nucleus		g.chr12:68716856C>T	AF007130	CCDS8983.1, CCDS44938.1, CCDS55841.1, CCDS55842.1	12q15	2008-04-14	2008-04-14			ENSG00000111554			29917	protein-coding gene	gene with protein product		613813	"""Mdm4, transformed 3T3 cell double minute 1, p53 binding protein (mouse)"""			8619474, 9110174	Standard	NM_017440		Approved		uc001stz.2	Q8TC05		ENST00000303145.7:c.798G>A	12.37:g.68716856C>T						MDM1_uc009zqv.1_5'UTR|MDM1_uc010stc.1_Silent_p.R221R	p.R266R	NM_017440	NP_059136	Q8TC05	MDM1_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)	4	934	-			266					B4DM65|E7EPQ3|O43406|Q8WTV9|Q9NR04	Silent	SNP	ENST00000303145.7	37	c.798G>A	CCDS8983.1																																																																																				0.328	MDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402402.1	NM_020128	
RALGAPA1	253959	broad.mit.edu	37	14	36211763	36211763	+	Silent	SNP	T	T	C			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr14:36211763T>C	ENST00000389698.3	-	11	1650	c.1260A>G	c.(1258-1260)ttA>ttG	p.L420L	RALGAPA1_ENST00000382366.3_Silent_p.L420L|RALGAPA1_ENST00000307138.6_Silent_p.L420L|RALGAPA1_ENST00000258840.6_Silent_p.L420L|RALGAPA1_ENST00000554704.1_5'UTR	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	420					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						AAATTGGTAATAAAAATGCCT	0.353																																						uc001wtj.3																			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.(1258-1260)ttA>ttG		Homo sapiens Ral GTPase activating protein, alpha subunit 1 (catalytic) (RALGAPA1), transcript variant 2, mRNA.							45.0	46.0	45.0					14																	36211763		2200	4299	6499	SO:0001819	synonymous_variant	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36211763T>C	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.1260A>G	14.37:g.36211763T>C						RALGAPA1_uc001wti.3_Silent_p.L420L|RALGAPA1_uc010tpv.2_Silent_p.L420L|RALGAPA1_uc010tpw.1_Silent_p.L420L|RALGAPA1_uc001wtk.1_Silent_p.L271L	p.L420L	NM_194301	NP_919277	Q6GYQ0	RGPA1_HUMAN			10	1651	-			420					A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Silent	SNP	ENST00000389698.3	37	c.1260A>G	CCDS32065.1																																																																																				0.353	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022	
RFX7	64864	broad.mit.edu	37	15	56435018	56435018	+	Missense_Mutation	SNP	G	G	A	rs547205397		TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr15:56435018G>A	ENST00000559447.2	-	4	339	c.68C>T	c.(67-69)cCg>cTg	p.P23L	RFX7_ENST00000422057.1_Missense_Mutation_p.P23L|RFX7_ENST00000317318.6_Missense_Mutation_p.P120L|RFX7_ENST00000423270.1_Missense_Mutation_p.P120L			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	23					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TGAAGTCTCCGGATGTTCCTC	0.388													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21269	0.0		0.0	False		,,,				2504	0.0					uc010bfn.3																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(358-360)cCg>cTg		Homo sapiens regulatory factor X, 7 (RFX7), mRNA.							85.0	80.0	82.0					15																	56435018		1888	4126	6014	SO:0001583	missense	64864				regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr15:56435018G>A			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"""regulatory factor X domain containing 2"""	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.68C>T	15.37:g.56435018G>A	ENSP00000453281:p.Pro23Leu						p.P120L	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN			3	359	-			23					Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Missense_Mutation	SNP	ENST00000559447.2	37	c.359C>T		.	.	.	.	.	.	.	.	.	.	G	28.7	4.944522	0.92593	.	.	ENSG00000181827	ENST00000422057;ENST00000317318;ENST00000423270	D;D;D	0.83506	-1.73;-1.73;-1.73	6.02	6.02	0.97574	Winged helix-turn-helix transcription repressor DNA-binding (1);DNA-binding RFX (1);	0.000000	0.64402	D	0.000001	D	0.88548	0.6466	L	0.48642	1.525	0.80722	D	1	D	0.89917	1.0	D	0.68353	0.957	D	0.88773	0.3265	10	0.87932	D	0	-10.1337	18.0409	0.89318	0.0:0.0:1.0:0.0	.	23	Q2KHR2	RFX7_HUMAN	L	23;120;120	ENSP00000387504:P23L;ENSP00000313299:P120L;ENSP00000397644:P120L	ENSP00000313299:P120L	P	-	2	0	RFX7	54222310	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.011000	0.93618	2.850000	0.98022	0.650000	0.86243	CCG		0.388	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841	
WDR90	197335	broad.mit.edu	37	16	703568	703568	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr16:703568C>T	ENST00000293879.4	+	12	1277	c.1277C>T	c.(1276-1278)tCg>tTg	p.S426L	WDR90_ENST00000549091.1_Missense_Mutation_p.S426L|LA16c-349E10.1_ENST00000573609.1_RNA			Q96KV7	WDR90_HUMAN	WD repeat domain 90	426										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CTATTGGCCTCGGCCCAGGCA	0.657																																						uc002cii.1																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37						c.(1276-1278)tCg>tTg		Homo sapiens WD repeat domain 90 (WDR90), mRNA.							66.0	74.0	71.0					16																	703568		2016	4171	6187	SO:0001583	missense	197335							g.chr16:703568C>T	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.1277C>T	16.37:g.703568C>T	ENSP00000293879:p.Ser426Leu					WDR90_uc002cig.1_Missense_Mutation_p.S426L|WDR90_uc002cih.1_Missense_Mutation_p.S427L|WDR90_uc002cij.1_Non-coding_Transcript|WDR90_uc002cik.1_5'Flank	p.S426L	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN			11	1331	+		Hepatocellular(780;0.0218)	426					Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	ENST00000293879.4	37	c.1277C>T	CCDS42092.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.885675	0.72410	.	.	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.01484	4.84;4.84	4.74	4.74	0.60224	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.56097	U	0.000030	T	0.18215	0.0437	H	0.96175	3.78	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.22661	-1.0210	10	0.87932	D	0	.	16.7135	0.85392	0.0:1.0:0.0:0.0	.	426;427;426	Q96KV7;C9JMK1;Q96KV7-3	WDR90_HUMAN;.;.	L	426	ENSP00000448122:S426L;ENSP00000293879:S426L	ENSP00000293879:S426L	S	+	2	0	WDR90	643569	1.000000	0.71417	0.963000	0.40424	0.019000	0.09904	7.346000	0.79347	2.180000	0.69256	0.561000	0.74099	TCG		0.657	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294	
PAM16	51025	broad.mit.edu	37	16	4391505	4391505	+	Splice_Site	SNP	G	G	C			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr16:4391505G>C	ENST00000318059.3	-	3	226	c.89C>G	c.(88-90)gCc>gGc	p.A30G	PAM16_ENST00000576217.1_Splice_Site_p.A30G|CORO7-PAM16_ENST00000572467.1_Splice_Site_p.A953G|PAM16_ENST00000575848.1_Splice_Site_p.A42G|PAM16_ENST00000573553.1_Splice_Site_p.A50G|CORO7-PAM16_ENST00000572274.1_5'UTR|PAM16_ENST00000577031.1_Splice_Site_p.A30G|PAM16_ENST00000571941.1_Splice_Site_p.A50G	NM_016069.9	NP_057153.8	Q9Y3D7	TIM16_HUMAN	presequence translocase-associated motor 16 homolog (S. cerevisiae)	30					cellular protein metabolic process (GO:0044267)|protein import into mitochondrial matrix (GO:0030150)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane presequence translocase complex (GO:0005744)				lung(3)	3						GGCCCGGCTGGCTGTGTGGAC	0.657																																						uc002cwf.3																			0											c.e29-1		Homo sapiens CORO7-PAM16 readthrough (CORO7-PAM16), mRNA.							27.0	24.0	25.0					16																	4391505		2188	4289	6477	SO:0001630	splice_region_variant	79585							g.chr16:4391505G>C	AK026514	CCDS10512.1	16p13.3	2010-10-12	2010-10-12		ENSG00000217930	ENSG00000217930			29679	protein-coding gene	gene with protein product	"""mitochondria associated protein involved in granulocyte macrophage colony stimulating factor signal transduction"""	614336				10810093, 11750097	Standard	NM_016069		Approved	Magmas, Tim16, TIMM16		Q9Y3D7	OTTHUMG00000129466	ENST00000318059.3:c.89-1C>G	16.37:g.4391505G>C						CORO7-PAM16_uc002cwe.3_Non-coding_Transcript|CORO7-PAM16_uc002cwd.3_Splice_Site_p.A30_splice	p.A953_splice	NM_001201479	NP_001188408					29	3301	-								Q6I9Z3|Q9H5X3	Missense_Mutation	SNP	ENST00000318059.3	37	c.2858_splice	CCDS10512.1	.	.	.	.	.	.	.	.	.	.	G	35	5.585927	0.96578	.	.	ENSG00000217930	ENST00000318059	T	0.54071	0.59	6.11	6.11	0.99139	.	.	.	.	.	T	0.78207	0.4247	M	0.92604	3.325	0.46396	D	0.999024	D	0.54397	0.966	P	0.62089	0.898	T	0.76892	-0.2791	9	0.28530	T	0.3	.	20.3293	0.98710	0.0:0.0:1.0:0.0	.	30	Q9Y3D7	TIM16_HUMAN	G	30	ENSP00000315693:A30G	ENSP00000315693:A30G	A	-	2	0	PAM16	4331506	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.269000	0.95684	2.906000	0.99361	0.655000	0.94253	GCC		0.657	PAM16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251629.2	NM_016069	Missense_Mutation
SLC25A11	8402	broad.mit.edu	37	17	4842250	4842250	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr17:4842250C>T	ENST00000225665.7	-	3	609	c.269G>A	c.(268-270)cGt>cAt	p.R90H	SLC25A11_ENST00000544061.2_Missense_Mutation_p.R39H|RNF167_ENST00000572430.1_5'Flank|RNF167_ENST00000575111.1_5'Flank|RNF167_ENST00000571816.1_5'Flank|RNF167_ENST00000576229.1_5'Flank|RNF167_ENST00000262482.6_5'Flank	NM_001165417.1|NM_003562.4	NP_001158889.1|NP_003553.2	Q02978	M2OM_HUMAN	solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11	90					alpha-ketoglutarate transport (GO:0015742)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxoglutarate:malate antiporter activity (GO:0015367)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	10						GGTGGCCTGACGCAGCAGGCC	0.612																																					Esophageal Squamous(144;1178 2388 18010 48797)	uc002fzo.2																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	10						c.(268-270)cGt>cAt		Homo sapiens solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11 (SLC25A11), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							53.0	54.0	54.0					17																	4842250		2203	4300	6503	SO:0001583	missense	8402				gluconeogenesis	integral to plasma membrane|mitochondrial inner membrane	oxoglutarate:malate antiporter activity	g.chr17:4842250C>T	X66114	CCDS11059.1, CCDS54069.1	17p13.3	2013-05-22			ENSG00000108528	ENSG00000108528		"""Solute carriers"""	10981	protein-coding gene	gene with protein product		604165		SLC20A4		10072597, 1457818	Standard	NM_003562		Approved	OGC	uc002fzo.2	Q02978	OTTHUMG00000099395	ENST00000225665.7:c.269G>A	17.37:g.4842250C>T	ENSP00000225665:p.Arg90His					SLC25A11_uc002fzp.2_Missense_Mutation_p.R86H|SLC25A11_uc021tod.1_Missense_Mutation_p.R79H|SLC25A11_uc021toe.1_Missense_Mutation_p.R39H|RNF167_uc002fzs.3_5'Flank|RNF167_uc002fzw.2_5'Flank|RNF167_uc002fzu.3_5'Flank	p.R90H	NM_003562	NP_003553	Q02978	M2OM_HUMAN			2	526	-			90					F5GY65|O75537|Q969P7	Missense_Mutation	SNP	ENST00000225665.7	37	c.269G>A	CCDS11059.1	.	.	.	.	.	.	.	.	.	.	C	34	5.362023	0.95877	.	.	ENSG00000108528	ENST00000225665;ENST00000544061	D;T	0.81659	-1.52;-1.34	5.97	5.97	0.96955	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.93307	0.7867	H	0.96430	3.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94725	0.7904	10	0.87932	D	0	-1.1849	17.9218	0.88969	0.0:1.0:0.0:0.0	.	90;90	Q6IBH0;Q02978	.;M2OM_HUMAN	H	90;39	ENSP00000225665:R90H;ENSP00000440804:R39H	ENSP00000225665:R90H	R	-	2	0	SLC25A11	4782995	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.937000	0.75898	2.837000	0.97791	0.655000	0.94253	CGT		0.612	SLC25A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216852.4	NM_003562	
TMEM102	284114	broad.mit.edu	37	17	7340213	7340213	+	Silent	SNP	T	T	A			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr17:7340213T>A	ENST00000323206.1	+	3	1188	c.915T>A	c.(913-915)gcT>gcA	p.A305A	FGF11_ENST00000293829.4_5'Flank|RP11-104H15.7_ENST00000575310.1_RNA|FGF11_ENST00000575235.1_5'Flank|RP11-104H15.8_ENST00000576615.1_RNA|RP11-104H15.9_ENST00000570444.1_RNA|FGF11_ENST00000572907.1_5'Flank|RP11-104H15.10_ENST00000575331.1_RNA|TMEM102_ENST00000396568.1_Silent_p.A305A	NM_178518.2	NP_848613.1	Q8N9M5	TM102_HUMAN	transmembrane protein 102	305					apoptotic process (GO:0006915)|positive regulation of cell adhesion (GO:0045785)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T cell migration (GO:2000406)|regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901028)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to cytokine (GO:0034097)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|protein complex (GO:0043234)				kidney(1)|lung(3)|skin(1)	5		Prostate(122;0.173)				TCCTCCTGGCTACCCCTGAGC	0.721																																						uc002ggx.1																			0				kidney(1)|lung(3)|skin(1)	5						c.(913-915)gcT>gcA		Homo sapiens transmembrane protein 102 (TMEM102), mRNA.							29.0	31.0	30.0					17																	7340213		2202	4299	6501	SO:0001819	synonymous_variant	284114				regulation of apoptosis|response to cytokine stimulus|signal transduction	cell surface|integral to membrane|intracellular	protein binding	g.chr17:7340213T>A	AK094197	CCDS11104.1	17p13.1	2008-04-21			ENSG00000181284	ENSG00000181284			26722	protein-coding gene	gene with protein product		613936				12477932	Standard	NM_178518		Approved	FLJ36878	uc002ggx.1	Q8N9M5	OTTHUMG00000132901	ENST00000323206.1:c.915T>A	17.37:g.7340213T>A						SPEM1_uc010vtw.1_Intron|TMEM102_uc002ggy.2_Silent_p.A305A|FGF11_uc010cmh.1_5'Flank|FGF11_uc010cmi.3_5'Flank|FGF11_uc002ggz.3_5'Flank	p.A305A	NM_178518	NP_848613	Q8N9M5	TM102_HUMAN			2	1188	+		Prostate(122;0.173)	305					D3DTP8	Silent	SNP	ENST00000323206.1	37	c.915T>A	CCDS11104.1																																																																																				0.721	TMEM102-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256405.1	NM_178518	
KRBA2	124751	broad.mit.edu	37	17	8274702	8274702	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr17:8274702T>G	ENST00000331336.2	-	1	156	c.151A>C	c.(151-153)Aat>Cat	p.N51H	RP11-849F2.5_ENST00000583963.1_RNA|KRBA2_ENST00000396267.1_Intron|RP11-849F2.5_ENST00000580537.1_RNA|RP11-849F2.7_ENST00000582471.1_3'UTR	NM_213597.2	NP_998762.1	Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	51	KRAB.				DNA integration (GO:0015074)|regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)			endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						TCTAAATAATTCCAATCTTTG	0.453																																						uc002glf.1																			0		p.N51K(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						c.(151-153)Aat>Cat		Homo sapiens KRAB-A domain containing 2 (KRBA2), mRNA.							125.0	128.0	127.0					17																	8274702		2203	4300	6503	SO:0001583	missense	124751				DNA integration|regulation of transcription, DNA-dependent	intracellular	DNA binding	g.chr17:8274702T>G	BC024723	CCDS11141.1	17p13.1	2013-01-08	2006-08-15		ENSG00000184619	ENSG00000184619		"""-"""	26989	protein-coding gene	gene with protein product			"""KRAB A domain containing 2"""			12477932	Standard	NM_213597		Approved		uc002glf.1	Q6ZNG9	OTTHUMG00000132864	ENST00000331336.2:c.151A>C	17.37:g.8274702T>G	ENSP00000328017:p.Asn51His					KRBA2_uc002glg.1_Intron	p.N51H	NM_213597	NP_998762	Q6ZNG9	KRBA2_HUMAN			0	157	-			51			KRAB.		Q8IYY0	Missense_Mutation	SNP	ENST00000331336.2	37	c.151A>C	CCDS11141.1	.	.	.	.	.	.	.	.	.	.	T	6.491	0.458705	0.12342	.	.	ENSG00000184619	ENST00000331336	T	0.01647	4.71	2.26	-1.68	0.08212	Krueppel-associated box (3);	.	.	.	.	T	0.00695	0.0023	N	0.04508	-0.205	0.09310	N	1	P	0.37573	0.6	B	0.37267	0.245	T	0.33007	-0.9885	9	0.02654	T	1	.	0.2518	0.00206	0.2294:0.1525:0.2345:0.3836	.	51	Q6ZNG9	KRBA2_HUMAN	H	51	ENSP00000328017:N51H	ENSP00000328017:N51H	N	-	1	0	KRBA2	8215427	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.222000	0.09190	-0.462000	0.06984	-0.488000	0.04728	AAT		0.453	KRBA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256338.1	NM_213597	
UNC45B	146862	broad.mit.edu	37	17	33497185	33497185	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr17:33497185G>A	ENST00000268876.5	+	12	1697	c.1600G>A	c.(1600-1602)Ggc>Agc	p.G534S	UNC45B_ENST00000394570.2_Missense_Mutation_p.G534S|UNC45B_ENST00000433649.1_Missense_Mutation_p.G534S|UNC45B_ENST00000591048.1_Intron|UNC45B_ENST00000378449.1_Intron	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	534					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				GGCAGTGGAGGGCCTGGCCTA	0.627																																						uc002hja.3																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59						c.(1600-1602)Ggc>Agc		Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA.							83.0	70.0	74.0					17																	33497185		2203	4300	6503	SO:0001583	missense	146862				cell differentiation|muscle organ development	cytosol	binding	g.chr17:33497185G>A	AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.1600G>A	17.37:g.33497185G>A	ENSP00000268876:p.Gly534Ser					UNC45B_uc002hjb.3_Missense_Mutation_p.G534S|UNC45B_uc002hjc.3_Missense_Mutation_p.G534S|UNC45B_uc010cto.3_Intron	p.G534S	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN			11	1697	+		Ovarian(249;0.17)	534					Q495Q8|Q495Q9	Missense_Mutation	SNP	ENST00000268876.5	37	c.1600G>A	CCDS11292.1	.	.	.	.	.	.	.	.	.	.	G	36	5.654313	0.96724	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649	T;T;T	0.28454	1.61;3.66;1.61	5.08	5.08	0.68730	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.63426	0.2510	M	0.88906	2.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.70974	-0.4726	10	0.87932	D	0	-32.2218	17.634	0.88117	0.0:0.0:1.0:0.0	.	534;534	Q8IWX7-3;Q8IWX7	.;UN45B_HUMAN	S	534	ENSP00000378071:G534S;ENSP00000268876:G534S;ENSP00000412840:G534S	ENSP00000268876:G534S	G	+	1	0	UNC45B	30521298	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	9.601000	0.98297	2.630000	0.89119	0.655000	0.94253	GGC		0.627	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167	
TMC6	11322	broad.mit.edu	37	17	76120076	76120076	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr17:76120076A>C	ENST00000590602.1	-	9	1235	c.1076T>G	c.(1075-1077)gTg>gGg	p.V359G	TMC6_ENST00000592076.1_5'Flank|TMC6_ENST00000591436.1_5'Flank|TMC6_ENST00000392467.3_Missense_Mutation_p.V359G|TMC6_ENST00000322914.3_Missense_Mutation_p.V359G|TMC6_ENST00000306591.7_Missense_Mutation_p.V359G|TMC6_ENST00000589553.1_Missense_Mutation_p.V132G|TMC6_ENST00000322933.4_5'UTR			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	359					ion transport (GO:0006811)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TTACCTGTACACCAGGGTGAT	0.552																																						uc002juj.1																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14						c.(1075-1077)gTg>gGg		Homo sapiens transmembrane channel-like 6 (TMC6), transcript variant 2, mRNA.							79.0	72.0	74.0					17																	76120076		2203	4300	6503	SO:0001583	missense	11322					endoplasmic reticulum membrane|integral to membrane		g.chr17:76120076A>C	AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524			18021	protein-coding gene	gene with protein product		605828	"""epidermodysplasia verruciformis 1"""	EVER1		12426567	Standard	NM_007267		Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466	ENST00000590602.1:c.1076T>G	17.37:g.76120076A>C	ENSP00000465261:p.Val359Gly					TMC6_uc002jui.1_5'Flank|TMC6_uc010dhf.1_Missense_Mutation_p.V192G|TMC6_uc002juk.2_Missense_Mutation_p.V359G|TMC6_uc010dhg.1_Missense_Mutation_p.V359G|TMC6_uc002jul.1_Missense_Mutation_p.V359G|TMC6_uc002jum.4_Missense_Mutation_p.V150G|TMC6_uc002jun.4_Missense_Mutation_p.V359G|TMC6_uc002juo.2_Missense_Mutation_p.V132G	p.V359G	NM_007267	NP_009198	Q7Z403	TMC6_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		7	1202	-			359					O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Missense_Mutation	SNP	ENST00000590602.1	37	c.1076T>G	CCDS32748.1	.	.	.	.	.	.	.	.	.	.	A	19.47	3.833637	0.71258	.	.	ENSG00000141524	ENST00000322914;ENST00000392467;ENST00000306591	T;T;T	0.66638	-0.22;-0.22;-0.22	4.34	4.34	0.51931	.	0.319446	0.28436	N	0.015355	T	0.81950	0.4931	M	0.82823	2.61	0.80722	D	1	D;D;D;D	0.89917	1.0;0.978;1.0;0.996	D;P;D;D	0.80764	0.994;0.868;0.946;0.954	D	0.84994	0.0896	10	0.87932	D	0	-28.0279	13.4805	0.61332	1.0:0.0:0.0:0.0	.	359;132;359;359	Q7Z403-2;Q7Z403-4;B3KTU5;Q7Z403	.;.;.;TMC6_HUMAN	G	359	ENSP00000313408:V359G;ENSP00000376260:V359G;ENSP00000306405:V359G	ENSP00000306405:V359G	V	-	2	0	TMC6	73631671	1.000000	0.71417	0.999000	0.59377	0.646000	0.38490	8.718000	0.91430	1.581000	0.49865	0.374000	0.22700	GTG		0.552	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437146.1		
CANT1	124583	broad.mit.edu	37	17	76989644	76989644	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr17:76989644G>C	ENST00000302345.2	-	4	1688	c.1194C>G	c.(1192-1194)atC>atG	p.I398M	CANT1_ENST00000591773.1_Missense_Mutation_p.I398M|CANT1_ENST00000392446.5_Missense_Mutation_p.I398M	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	398					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|proteoglycan biosynthetic process (GO:0030166)|signal transduction (GO:0007165)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|signal transducer activity (GO:0004871)|uridine-diphosphatase activity (GO:0045134)		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			AAATGAACTCGATGCCTTCGT	0.478			T	ETV4	prostate						OREG0024788	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002jwj.3				Dom	yes		17	17q25	124583	T	calcium activated nucleotidase 1			E	ETV4		prostate	CANT1/ETV4(3)	0				cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16						c.(1192-1194)atC>atG		Homo sapiens calcium activated nucleotidase 1 (CANT1), transcript variant 1, mRNA.							77.0	63.0	68.0					17																	76989644		2203	4300	6503	SO:0001583	missense	124583				positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity	g.chr17:76989644G>C	AJ312208	CCDS11760.1	17q25.3	2008-02-05	2004-10-12	2004-10-15		ENSG00000171302			19721	protein-coding gene	gene with protein product	"""Soluble Ca-Activated Nucleotidase, isozyme 1"""	613165				12167635	Standard	NM_138793		Approved	SHAPY, SCAN-1	uc002jwk.3	Q8WVQ1		ENST00000302345.2:c.1194C>G	17.37:g.76989644G>C	ENSP00000307674:p.Ile398Met		OREG0024788	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1172	CANT1_uc002jwn.3_Missense_Mutation_p.I398M|CANT1_uc002jwk.3_Missense_Mutation_p.I398M|CANT1_uc002jwl.2_Intron	p.I398M	NM_138793	NP_620148	Q8WVQ1	CANT1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)		3	1689	-			398					B4DJ54|Q7Z2J7|Q8NG05|Q8NHP0|Q9BSD5	Missense_Mutation	SNP	ENST00000302345.2	37	c.1194C>G	CCDS11760.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.832738	0.32421	.	.	ENSG00000171302	ENST00000302345;ENST00000392446;ENST00000339300	D;D	0.88818	-2.43;-2.43	5.16	-3.85	0.04243	.	0.235253	0.41500	D	0.000874	D	0.92241	0.7539	M	0.85197	2.74	0.43761	D	0.99627	D	0.58970	0.984	D	0.65443	0.935	D	0.89983	0.4102	10	0.72032	D	0.01	-12.4829	9.2802	0.37725	0.2907:0.0:0.5329:0.1764	.	398	Q8WVQ1	CANT1_HUMAN	M	398;398;347	ENSP00000307674:I398M;ENSP00000376241:I398M	ENSP00000307674:I398M	I	-	3	3	CANT1	74501239	0.080000	0.21391	0.007000	0.13788	0.261000	0.26267	-0.695000	0.05109	-0.688000	0.05155	-0.410000	0.06199	ATC		0.478	CANT1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437723.2	NM_138793	
RPTOR	57521	broad.mit.edu	37	17	78797000	78797000	+	Silent	SNP	G	G	A			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr17:78797000G>A	ENST00000306801.3	+	9	1475	c.1113G>A	c.(1111-1113)ccG>ccA	p.P371P	RPTOR_ENST00000537330.1_Silent_p.P186P|RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Silent_p.P371P|RPTOR_ENST00000570891.1_Silent_p.P371P	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	371					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CGCGTCTGCCGCCCACGTACA	0.562																																						uc002jyt.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						c.(1111-1113)ccG>ccA		Homo sapiens regulatory associated protein of MTOR, complex 1 (RPTOR), transcript variant 1, mRNA.							86.0	90.0	88.0					17																	78797000		2203	4300	6503	SO:0001819	synonymous_variant	57521				cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding	g.chr17:78797000G>A		CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"""WD repeat domain containing"""	30287	protein-coding gene	gene with protein product	"""regulatory associated protein of mTOR"""	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.1113G>A	17.37:g.78797000G>A						RPTOR_uc002jys.3_Silent_p.P371P|RPTOR_uc010wuf.1_Silent_p.P186P|RPTOR_uc010wug.1_Silent_p.P371P	p.P371P	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN			8	1918	+			371					B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Silent	SNP	ENST00000306801.3	37	c.1113G>A	CCDS11773.1																																																																																				0.562	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761	
TMX3	54495	broad.mit.edu	37	18	66377374	66377374	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr18:66377374G>A	ENST00000299608.2	-	4	465	c.149C>T	c.(148-150)gCg>gTg	p.A50V	TMX3_ENST00000443099.2_Missense_Mutation_p.A50V|TMX3_ENST00000562706.1_Missense_Mutation_p.A50V	NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3	50	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						ACACCATGGCGCATAAAACTT	0.323																																						uc002lkf.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						c.(148-150)gCg>gTg		Homo sapiens thioredoxin-related transmembrane protein 3 (TMX3), mRNA.							55.0	49.0	51.0					18																	66377374		2203	4300	6503	SO:0001583	missense	54495				cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr18:66377374G>A	BX647846	CCDS32840.1	18q22	2011-10-19	2009-02-23	2009-02-23		ENSG00000166479		"""Protein disulfide isomerases"""	24718	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 13"""		"""thioredoxin domain containing 10"""	TXNDC10		15623505	Standard	NM_019022		Approved	FLJ20793, KIAA1830, PDIA13	uc002lkf.3	Q96JJ7		ENST00000299608.2:c.149C>T	18.37:g.66377374G>A	ENSP00000299608:p.Ala50Val					TMX3_uc010xez.2_5'UTR|TMX3_uc010xfa.1_Missense_Mutation_p.A50V|TMX3_uc002lkg.4_Missense_Mutation_p.A50V	p.A50V	NM_019022	NP_061895	Q96JJ7	TMX3_HUMAN			3	284	-			50			Thioredoxin.		B3KV75|Q52LT7|Q8N5J0|Q9NWJ9	Missense_Mutation	SNP	ENST00000299608.2	37	c.149C>T	CCDS32840.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.916459	0.92249	.	.	ENSG00000166479	ENST00000299608;ENST00000544714;ENST00000443099	T;T;T	0.10192	2.9;2.9;2.9	5.57	5.57	0.84162	Thioredoxin domain (1);Thioredoxin, conserved site (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	T	0.47060	0.1425	H	0.94925	3.6	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.61352	-0.7080	10	0.87932	D	0	.	18.1057	0.89519	0.0:0.0:1.0:0.0	.	50;50;50	B4DIE3;Q96JJ7-2;Q96JJ7	.;.;TMX3_HUMAN	V	50	ENSP00000299608:A50V;ENSP00000444954:A50V;ENSP00000402605:A50V	ENSP00000299608:A50V	A	-	2	0	TMX3	64528354	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	9.738000	0.98835	2.619000	0.88677	0.563000	0.77884	GCG		0.323	TMX3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420155.1	NM_019022	
RTTN	25914	broad.mit.edu	37	18	67718690	67718690	+	Silent	SNP	C	C	T	rs186543005	byFrequency	TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr18:67718690C>T	ENST00000255674.6	-	39	5566	c.5280G>A	c.(5278-5280)ccG>ccA	p.P1760P	RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1760					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				CGGTAACAAACGGGAGTGTGA	0.428													C|||	3	0.000599042	0.0	0.0	5008	,	,		17025	0.001		0.001	False		,,,				2504	0.001					uc002lkp.2																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(5278-5280)ccG>ccA		Homo sapiens rotatin (RTTN), mRNA.		C		0,3834		0,0,1917	101.0	90.0	93.0		5280	-10.8	0.0	18		93	6,8268		0,6,4131	no	coding-synonymous	RTTN	NM_173630.3		0,6,6048	TT,TC,CC		0.0725,0.0,0.0496		1760/2227	67718690	6,12102	1917	4137	6054	SO:0001819	synonymous_variant	25914						binding	g.chr18:67718690C>T	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.5280G>A	18.37:g.67718690C>T						RTTN_uc002lko.2_Non-coding_Transcript|RTTN_uc010xfb.1_Silent_p.P848P|RTTN_uc010dqp.2_Silent_p.P12P	p.P1760P	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN			38	5348	-		Esophageal squamous(42;0.129)	1760					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Silent	SNP	ENST00000255674.6	37	c.5280G>A	CCDS42443.1																																																																																				0.428	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630	
ODF3L2	284451	broad.mit.edu	37	19	463966	463966	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr19:463966C>T	ENST00000315489.4	-	4	983	c.748G>A	c.(748-750)Gtg>Atg	p.V250M	ODF3L2_ENST00000382696.3_Missense_Mutation_p.V214M|SHC2_ENST00000264554.6_5'Flank	NM_182577.2	NP_872383.1	Q3SX64	OD3L2_HUMAN	outer dense fiber of sperm tails 3-like 2	250						cytoplasmic microtubule (GO:0005881)				large_intestine(1)|lung(2)	3						GCTTTGTTCACGGTGACCTGC	0.731																																						uc002lor.3																			0				large_intestine(1)|lung(2)	3						c.(748-750)Gtg>Atg		Homo sapiens outer dense fiber of sperm tails 3-like 2 (ODF3L2), mRNA.							24.0	28.0	27.0					19																	463966		2194	4290	6484	SO:0001583	missense	284451							g.chr19:463966C>T	AK097378	CCDS12027.1	19p13.3	2010-04-23	2008-07-04	2008-07-04		ENSG00000181781			26841	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 19"""	C19orf19		14702039	Standard	NM_182577		Approved	FLJ40059	uc002lor.3	Q3SX64		ENST00000315489.4:c.748G>A	19.37:g.463966C>T	ENSP00000318029:p.Val250Met					SHC2_uc002loq.4_5'Flank|ODF3L2_uc010drp.3_Missense_Mutation_p.V214M	p.V250M	NM_182577	NP_872383	Q3SX64	OD3L2_HUMAN			3	984	-			250					Q3SX65|Q8N1L2	Missense_Mutation	SNP	ENST00000315489.4	37	c.748G>A	CCDS12027.1	.	.	.	.	.	.	.	.	.	.	C	6.683	0.494544	0.12702	.	.	ENSG00000181781	ENST00000315489;ENST00000382696	T;T	0.48201	1.38;0.82	3.81	1.53	0.23141	.	0.485779	0.21166	N	0.079075	T	0.19765	0.0475	N	0.17594	0.5	0.26532	N	0.974241	B;P	0.40282	0.421;0.711	B;B	0.27715	0.023;0.082	T	0.10474	-1.0628	10	0.22706	T	0.39	-10.1304	4.9108	0.13821	0.0:0.6005:0.1793:0.2202	.	214;250	Q3SX64-2;Q3SX64	.;OD3L2_HUMAN	M	250;214	ENSP00000318029:V250M;ENSP00000372143:V214M	ENSP00000318029:V250M	V	-	1	0	ODF3L2	414966	0.000000	0.05858	0.428000	0.26697	0.440000	0.31957	0.735000	0.26115	0.712000	0.32039	0.555000	0.69702	GTG		0.731	ODF3L2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451849.2	NM_182577	
PIAS4	51588	broad.mit.edu	37	19	4012940	4012940	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr19:4012940G>A	ENST00000262971.2	+	2	162	c.47G>A	c.(46-48)cGa>cAa	p.R16Q		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	16	SAP. {ECO:0000255|PROSITE- ProRule:PRU00186, ECO:0000305}.				negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R16L(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGAGTTTTCGAGTCTCCGAC	0.597																																						uc002lzg.3																			1	Substitution - Missense(1)	p.R16L(2)	lung(1)	central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17						c.(46-48)cGa>cAa		Homo sapiens protein inhibitor of activated STAT, 4 (PIAS4), mRNA.							128.0	122.0	124.0					19																	4012940		2203	4300	6503	SO:0001583	missense	51588				positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding	g.chr19:4012940G>A	AF077952	CCDS12118.1	19p13.3	2011-10-11						"""Zinc fingers, MIZ-type"""	17002	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 6"""	605989				9724754	Standard	NM_015897		Approved	Piasg, PIASY, FLJ12419, ZMIZ6	uc002lzg.3	Q8N2W9		ENST00000262971.2:c.47G>A	19.37:g.4012940G>A	ENSP00000262971:p.Arg16Gln						p.R16Q	NM_015897	NP_056981	Q8N2W9	PIAS4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	1	57	+			16			SAP.		O75926|Q96G19|Q9UN16	Missense_Mutation	SNP	ENST00000262971.2	37	c.47G>A	CCDS12118.1	.	.	.	.	.	.	.	.	.	.	G	34	5.371786	0.95923	.	.	ENSG00000105229	ENST00000262971	T	0.57436	0.4	5.08	5.08	0.68730	DNA-binding SAP (3);	0.000000	0.85682	D	0.000000	T	0.69815	0.3153	L	0.58510	1.815	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.73151	-0.4073	10	0.87932	D	0	-7.5536	17.4313	0.87540	0.0:0.0:1.0:0.0	.	16	Q8N2W9	PIAS4_HUMAN	Q	16	ENSP00000262971:R16Q	ENSP00000262971:R16Q	R	+	2	0	PIAS4	3963940	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.808000	0.99193	2.358000	0.79984	0.561000	0.74099	CGA		0.597	PIAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457496.1	NM_015897	
ICAM4	3386	broad.mit.edu	37	19	10398368	10398368	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr19:10398368C>G	ENST00000380770.3	+	2	597	c.551C>G	c.(550-552)aCc>aGc	p.T184S	ICAM4_ENST00000340992.4_Missense_Mutation_p.H158Q|ICAM4_ENST00000393717.2_Missense_Mutation_p.T184S|ICAM5_ENST00000221980.4_5'Flank|CTD-2369P2.5_ENST00000592893.1_RNA|CTD-2369P2.8_ENST00000589379.1_RNA	NM_001544.4	NP_001535.1	Q14773	ICAM4_HUMAN	intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)	184	Ig-like C2-type 2.				extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)			breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GAGCGCTTCACCGGCCTGGAT	0.627																																						uc002mnr.2																			0				breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7						c.(472-474)caC>caG		Homo sapiens intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) (ICAM4), transcript variant 3, mRNA.							75.0	63.0	67.0					19																	10398368		2203	4300	6503	SO:0001583	missense	3386				cell-cell adhesion|regulation of immune response	extracellular region|integral to membrane|plasma membrane	integrin binding	g.chr19:10398368C>G	X93093	CCDS12232.1, CCDS32904.1, CCDS42500.1	19p13.2	2014-07-19	2006-02-23		ENSG00000105371	ENSG00000105371		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5347	protein-coding gene	gene with protein product		614088	"""intercellular adhesion molecule 4, Landsteiner-Wiener blood group"", ""Landsteiner-Wiener blood group"", ""intercellular adhesion molecule 4 (LW blood group)"""	LW		8639917, 6431896	Standard	NM_001039132		Approved	CD242	uc002mnr.2	Q14773	OTTHUMG00000180405	ENST00000380770.3:c.551C>G	19.37:g.10398368C>G	ENSP00000370147:p.Thr184Ser					ICAM4_uc002mns.2_Missense_Mutation_p.T184S|ICAM4_uc002mnt.2_Missense_Mutation_p.T184S|ICAM5_uc002mnu.4_5'Flank	p.H158Q	NM_001039132	NP_001034221	Q14773	ICAM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)		1	520	+			0			Ig-like C2-type 2.		A0M8X2|Q14771|Q14772|Q16375|Q9BWR0	Missense_Mutation	SNP	ENST00000380770.3	37	c.474C>G	CCDS12232.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.53|10.53	1.375433|1.375433	0.24857|0.24857	.|.	.|.	ENSG00000105371|ENSG00000105371	ENST00000340992|ENST00000380770;ENST00000393717	T|T;T	0.22945|0.05717	1.93|3.4;3.4	4.53|4.53	-2.53|-2.53	0.06326|0.06326	.|Immunoglobulin-like fold (1);	1.470860|.	0.04578|.	U|.	0.394513|.	T|T	0.02727|0.02727	0.0082|0.0082	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|P;P	0.19331|0.37500	0.035|0.597;0.462	B|B;B	0.12156|0.34722	0.007|0.188;0.133	T|T	0.42498|0.42498	-0.9448|-0.9448	9|8	0.72032|0.07990	D|T	0.01|0.79	-0.3872|-0.3872	8.534|8.534	0.33351|0.33351	0.5552:0.3074:0.1374:0.0|0.5552:0.3074:0.1374:0.0	.|.	158|184;184	Q9BWR0|Q14773-2;Q14773	.|.;ICAM4_HUMAN	Q|S	158|184	ENSP00000342114:H158Q|ENSP00000370147:T184S;ENSP00000377320:T184S	ENSP00000342114:H158Q|ENSP00000370147:T184S	H|T	+|+	3|2	2|0	ICAM4|ICAM4	10259368|10259368	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.014000|0.014000	0.08584|0.08584	-0.051000|-0.051000	0.11885|0.11885	-0.675000|-0.675000	0.05246|0.05246	0.462000|0.462000	0.41574|0.41574	CAC|ACC		0.627	ICAM4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451214.1	NM_001544	
RGL3	57139	broad.mit.edu	37	19	11526629	11526629	+	Silent	SNP	C	C	T			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr19:11526629C>T	ENST00000380456.3	-	5	684	c.621G>A	c.(619-621)ccG>ccA	p.P207P	RGL3_ENST00000393423.3_Silent_p.P207P	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	207					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						ACACCTGAGGCGGCTCCTCTT	0.567																																					GBM(174;751 2067 17998 27979 33959)	uc002mro.2																			0				breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						c.(619-621)ccG>ccA		Homo sapiens ral guanine nucleotide dissociation stimulator-like 3 (RGL3), transcript variant 1, mRNA.							150.0	158.0	155.0					19																	11526629		2203	4300	6503	SO:0001819	synonymous_variant	57139				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular		g.chr19:11526629C>T	BC014426	CCDS32910.1, CCDS54221.1	19p13.2	2008-02-05				ENSG00000205517			30282	protein-coding gene	gene with protein product						10869344	Standard	NM_001035223		Approved	FLJ32585	uc002mro.2	Q3MIN7		ENST00000380456.3:c.621G>A	19.37:g.11526629C>T						RGL3_uc002mrn.2_5'UTR|RGL3_uc002mrm.2_5'UTR|RGL3_uc002mrp.2_Silent_p.P207P	p.P207P	NM_001161616	NP_001155088	Q3MIN7	RGL3_HUMAN			4	685	-			207					B5ME84|B7ZL22|Q0P6G0	Silent	SNP	ENST00000380456.3	37	c.621G>A	CCDS32910.1	.	.	.	.	.	.	.	.	.	.	C	1.840	-0.467640	0.04476	.	.	ENSG00000205517	ENST00000342684	.	.	.	3.49	2.43	0.29744	.	.	.	.	.	T	0.37758	0.1015	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23511	-1.0186	5	0.39692	T	0.17	.	8.2334	0.31612	0.0:0.7834:0.0:0.2166	.	.	.	.	T	8	.	ENSP00000344665:A8T	A	-	1	0	RGL3	11387629	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	1.104000	0.31074	0.486000	0.27676	-1.203000	0.01651	GCC		0.567	RGL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421208.3	XM_290867	
ZNF91	7644	broad.mit.edu	37	19	23545038	23545038	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr19:23545038T>C	ENST00000300619.7	-	4	948	c.743A>G	c.(742-744)aAg>aGg	p.K248R	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.K216R	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	248					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TGAGAGCTGCTTAAAAGCTTT	0.363																																						uc002nre.3																			0											c.(742-744)aAg>aGg		Homo sapiens zinc finger protein 91 (ZNF91), mRNA.							97.0	108.0	104.0					19																	23545038		2172	4289	6461	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23545038T>C	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.743A>G	19.37:g.23545038T>C	ENSP00000300619:p.Lys248Arg					ZNF91_uc010xrj.2_Missense_Mutation_p.K216R	p.K248R	NM_003430	NP_003421	Q05481	ZNF91_HUMAN			3	856	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	248					A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.743A>G	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	T	0.028	-1.356943	0.01245	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.20881	2.04;2.04	1.66	-3.32	0.04973	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05868	0.0153	N	0.02391	-0.57	0.09310	N	1	B;B	0.25850	0.136;0.022	B;B	0.21546	0.035;0.022	T	0.41070	-0.9529	9	0.12430	T	0.62	.	5.4633	0.16630	0.0:0.5784:0.1867:0.2349	.	216;248	Q05481-2;Q05481	.;ZNF91_HUMAN	R	248;216	ENSP00000300619:K248R;ENSP00000380272:K216R	ENSP00000300619:K248R	K	-	2	0	ZNF91	23336878	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-5.128000	0.00148	-0.527000	0.06374	0.147000	0.16070	AAG		0.363	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430	
HIPK4	147746	broad.mit.edu	37	19	40886782	40886782	+	Silent	SNP	C	C	T	rs148513270	byFrequency	TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr19:40886782C>T	ENST00000291823.2	-	3	1400	c.1116G>A	c.(1114-1116)tcG>tcA	p.S372S		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	372					histone phosphorylation (GO:0016572)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of signal transduction by p53 class mediator (GO:1901796)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			CCACTTGCAGCGAGAGGCGGT	0.667																																						uc002onp.3																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20						c.(1114-1116)tcG>tcA		Homo sapiens homeodomain interacting protein kinase 4 (HIPK4), mRNA.		C		4,4396		0,4,2196	61.0	66.0	64.0		1116	-11.6	0.1	19	dbSNP_134	64	0,8590		0,0,4295	no	coding-synonymous	HIPK4	NM_144685.3		0,4,6491	TT,TC,CC		0.0,0.0909,0.0308		372/617	40886782	4,12986	2200	4295	6495	SO:0001819	synonymous_variant	147746					cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr19:40886782C>T	BC034501	CCDS12555.1	19q13.2	2008-02-05				ENSG00000160396			19007	protein-coding gene	gene with protein product		611712					Standard	NM_144685		Approved	FLJ32818	uc002onp.3	Q8NE63		ENST00000291823.2:c.1116G>A	19.37:g.40886782C>T							p.S372S	NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)		2	1401	-			372					A8K863|Q96M54	Silent	SNP	ENST00000291823.2	37	c.1116G>A	CCDS12555.1																																																																																				0.667	HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462593.1	NM_144685	
NLRP11	204801	broad.mit.edu	37	19	56320789	56320789	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr19:56320789C>T	ENST00000589093.1	-	3	1280	c.1187G>A	c.(1186-1188)cGt>cAt	p.R396H	NLRP11_ENST00000592953.1_Missense_Mutation_p.R297H|NLRP11_ENST00000589824.2_Missense_Mutation_p.R396H|NLRP11_ENST00000443188.1_Missense_Mutation_p.R396H|NLRP11_ENST00000360133.3_Missense_Mutation_p.R396H			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	396	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CAAACACAGACGTTTTAGGAG	0.493																																						uc010ygf.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66						c.(1186-1188)cGt>cAt		Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.							82.0	81.0	81.0					19																	56320789		2203	4300	6503	SO:0001583	missense	204801						ATP binding	g.chr19:56320789C>T	AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.1187G>A	19.37:g.56320789C>T	ENSP00000466285:p.Arg396His					NLRP11_uc002qlz.3_Missense_Mutation_p.R297H|NLRP11_uc002qmb.3_Missense_Mutation_p.R297H|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	p.R396H	NM_145007	NP_659444	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	4	1898	-		Colorectal(82;0.0002)	396			NACHT.		C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	37	c.1187G>A	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.514577	0.44763	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.74947	-0.89;-0.82	2.48	2.48	0.30137	.	.	.	.	.	T	0.75295	0.3830	L	0.38175	1.15	0.09310	N	1	D;D	0.76494	0.996;0.999	P;P	0.61201	0.771;0.885	T	0.62153	-0.6914	9	0.49607	T	0.09	.	8.568	0.33552	0.0:1.0:0.0:0.0	.	396;396	P59045;P59045-2	NAL11_HUMAN;.	H	396	ENSP00000409898:R396H;ENSP00000353251:R396H	ENSP00000353251:R396H	R	-	2	0	NLRP11	61012601	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.088000	0.11198	1.700000	0.51204	0.655000	0.94253	CGT		0.493	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007	
ZNF814	730051	broad.mit.edu	37	19	58385762	58385762	+	Silent	SNP	C	C	G	rs199732634		TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr19:58385762C>G	ENST00000435989.2	-	3	1230	c.996G>C	c.(994-996)tcG>tcC	p.S332S	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	332					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S332S(2)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTTGCTAAACGATTTCCCAC	0.358																																						uc002qqo.2																			2	Substitution - coding silent(2)	p.S332S(4)	kidney(2)	NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(994-996)tcG>tcC		Homo sapiens zinc finger protein 814 (ZNF814), mRNA.							25.0	25.0	25.0					19																	58385762		692	1589	2281	SO:0001819	synonymous_variant	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385762C>G		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.996G>C	19.37:g.58385762C>G						ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron	p.S332S	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN			2	1268	-			332					A6NF35	Silent	SNP	ENST00000435989.2	37	c.996G>C	CCDS46212.1																																																																																				0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708	
SLC3A1	6519	broad.mit.edu	37	2	44527119	44527119	+	Missense_Mutation	SNP	C	C	T	rs200001296		TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr2:44527119C>T	ENST00000260649.6	+	5	977	c.901C>T	c.(901-903)Cgg>Tgg	p.R301W	SLC3A1_ENST00000409294.1_5'Flank|SLC3A1_ENST00000409741.1_Missense_Mutation_p.R301W|SLC3A1_ENST00000409380.1_Missense_Mutation_p.R23W|SLC3A1_ENST00000410056.3_Missense_Mutation_p.R301W|SLC3A1_ENST00000409387.1_Missense_Mutation_p.R301W|SLC3A1_ENST00000409229.3_Missense_Mutation_p.R301W	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	301					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|basic amino acid transport (GO:0015802)|carbohydrate metabolic process (GO:0005975)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|vacuolar membrane (GO:0005774)	amino acid transmembrane transporter activity (GO:0015171)|basic amino acid transmembrane transporter activity (GO:0015174)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|L-cystine transmembrane transporter activity (GO:0015184)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	GGAAATTTTACGGTTCTGGCT	0.363													C|||	1	0.000199681	0.0	0.0	5008	,	,		19119	0.0		0.0	False		,,,				2504	0.001					uc002ruc.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26						c.(901-903)Cgg>Tgg		Homo sapiens solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1 (SLC3A1), mRNA.	L-Cystine(DB00138)	C	TRP/ARG	2,4404	6.2+/-15.9	0,2,2201	179.0	179.0	179.0		901	4.4	0.8	2		179	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SLC3A1	NM_000341.3	101	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	probably-damaging	301/686	44527119	3,13003	2203	4300	6503	SO:0001583	missense	6519				carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity	g.chr2:44527119C>T		CCDS1819.1	2p16.3	2013-07-19	2013-07-19		ENSG00000138079	ENSG00000138079		"""Solute carriers"""	11025	protein-coding gene	gene with protein product		104614	"""solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1"""			8486766, 9186880	Standard	NM_000341		Approved	CSNU1, D2H, RBAT, ATR1, NBAT	uc002ruc.4	Q07837	OTTHUMG00000128759	ENST00000260649.6:c.901C>T	2.37:g.44527119C>T	ENSP00000260649:p.Arg301Trp					SLC3A1_uc002rty.3_Missense_Mutation_p.R301W|SLC3A1_uc002rtz.2_Missense_Mutation_p.R301W|SLC3A1_uc002rua.3_Missense_Mutation_p.R301W|SLC3A1_uc002rub.2_Missense_Mutation_p.R301W|SLC3A1_uc002rud.4_Missense_Mutation_p.R23W	p.R301W	NM_000341	NP_000332	Q07837	SLC31_HUMAN			4	979	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	301					A8K0S1|O00658|Q15295|Q4J6B4|Q4J6B5|Q4J6B6|Q4J6B7|Q4J6B8|Q4J6B9|Q52M92|Q52M94	Missense_Mutation	SNP	ENST00000260649.6	37	c.901C>T	CCDS1819.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.219261	0.39201	4.54E-4	1.16E-4	ENSG00000138079	ENST00000260649;ENST00000409387;ENST00000540334;ENST00000410056;ENST00000409741;ENST00000409229;ENST00000541289;ENST00000409380;ENST00000427285	D;D;D;D;D;D;D	0.98493	-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96	5.36	4.4	0.53042	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.498699	0.23476	N	0.047771	D	0.98943	0.9641	M	0.92169	3.28	0.22001	N	0.999421	D;D;D;D;D	0.76494	0.994;0.997;0.999;0.997;0.999	P;P;D;P;P	0.63192	0.806;0.873;0.912;0.863;0.873	D	0.95895	0.8910	10	0.72032	D	0.01	-4.21	11.9258	0.52819	0.535:0.465:0.0:0.0	.	301;301;301;301;301	Q07837;B8ZZK1;Q4J6B5;Q4J6B6;Q4J6B8	SLC31_HUMAN;.;.;.;.	W	301;301;237;301;301;301;301;23;79	ENSP00000260649:R301W;ENSP00000387308:R301W;ENSP00000387337:R301W;ENSP00000386954:R301W;ENSP00000386620:R301W;ENSP00000386709:R23W;ENSP00000391642:R79W	ENSP00000260649:R301W	R	+	1	2	SLC3A1	44380623	0.008000	0.16893	0.811000	0.32455	0.124000	0.20399	0.621000	0.24418	1.047000	0.40274	0.655000	0.94253	CGG		0.363	SLC3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250676.1	NM_000341	
TSPYL6	388951	broad.mit.edu	37	2	54483145	54483145	+	Silent	SNP	C	C	G			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr2:54483145C>G	ENST00000317802.7	-	1	264	c.144G>C	c.(142-144)gtG>gtC	p.V48V	ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000303536.4_Intron	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN	TSPY-like 6	48					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						GCGGTGGGAACACGATTGGCT	0.607																																						uc002rxr.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						c.(142-144)gtG>gtC		Homo sapiens TSPY-like 6 (TSPYL6), mRNA.							75.0	86.0	83.0					2																	54483145		1950	4138	6088	SO:0001819	synonymous_variant	388951				nucleosome assembly	nucleus		g.chr2:54483145C>G	AK097417	CCDS42682.1	2p16.3	2007-10-22			ENSG00000178021	ENSG00000178021			14521	protein-coding gene	gene with protein product							Standard	NM_001003937		Approved		uc002rxr.2	Q8N831	OTTHUMG00000151823	ENST00000317802.7:c.144G>C	2.37:g.54483145C>G						ACYP2_uc002rxq.4_Intron	p.V48V	NM_001003937	NP_001003937	Q8N831	TSYL6_HUMAN			0	265	-			48					Q6NUJ3	Silent	SNP	ENST00000317802.7	37	c.144G>C	CCDS42682.1																																																																																				0.607	TSPYL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324069.3	XM_371494	
CATIP	375307	broad.mit.edu	37	2	219222293	219222293	+	Missense_Mutation	SNP	C	C	T	rs369378162		TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr2:219222293C>T	ENST00000289388.3	+	3	184	c.155C>T	c.(154-156)aCg>aTg	p.T52M	AC021016.8_ENST00000411433.1_RNA	NM_198559.1	NP_940961.1	Q7Z7H3	CATIP_HUMAN		52					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTCTCTGAGACGCTGGCCATG	0.577																																						uc002vhr.3																			0				endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16						c.(154-156)aCg>aTg		Homo sapiens chromosome 2 open reading frame 62 (C2orf62), mRNA.		C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	43.0	40.0	41.0		155	4.3	0.9	2		41	0,8600		0,0,4300	no	missense	C2orf62	NM_198559.1	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	52/388	219222293	1,13005	2203	4300	6503	SO:0001583	missense	375307							g.chr2:219222293C>T																												ENST00000289388.3:c.155C>T	2.37:g.219222293C>T	ENSP00000289388:p.Thr52Met						p.T52M	NM_198559	NP_940961	Q7Z7H3	CB062_HUMAN		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	184	+		Renal(207;0.0915)	52						Missense_Mutation	SNP	ENST00000289388.3	37	c.155C>T	CCDS2414.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.378286	0.42207	2.27E-4	0.0	ENSG00000158428	ENST00000289388	.	.	.	4.32	4.32	0.51571	.	0.058136	0.64402	D	0.000001	T	0.68650	0.3024	M	0.67953	2.075	0.33075	D	0.535836	D	0.89917	1.0	D	0.91635	0.999	T	0.77571	-0.2538	9	0.87932	D	0	-18.5541	12.4741	0.55803	0.0:1.0:0.0:0.0	.	52	Q7Z7H3	CB062_HUMAN	M	52	.	ENSP00000289388:T52M	T	+	2	0	C2orf62	218930537	0.953000	0.32496	0.900000	0.35374	0.025000	0.11179	2.350000	0.44063	2.398000	0.81561	0.462000	0.41574	ACG		0.577	C2orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256771.1		
DES	1674	broad.mit.edu	37	2	220290674	220290674	+	Missense_Mutation	SNP	G	G	A	rs73991549	byFrequency	TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr2:220290674G>A	ENST00000373960.3	+	9	1461	c.1375G>A	c.(1375-1377)Gtc>Atc	p.V459I	AC053503.6_ENST00000431827.1_RNA	NM_001927.3	NP_001918.3	P17661	DESM_HUMAN	desmin	459	Tail.				cytoskeleton organization (GO:0007010)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart contraction (GO:0008016)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intermediate filament (GO:0005882)|neuromuscular junction (GO:0031594)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)	p.V459I(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		TCCCCAGGTCGTCAGTGAGGC	0.607													G|||	49	0.00978435	0.0325	0.0072	5008	,	,		19604	0.0		0.001	False		,,,				2504	0.0					uc002vll.3																			1	Substitution - Missense(1)	p.V459I(2)	central_nervous_system(1)	breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18	GRCh37	CM070889	DES	M	rs73991549	c.(1375-1377)Gtc>Atc		Homo sapiens desmin (DES), mRNA.		G	ILE/VAL	157,4249	107.3+/-145.7	2,153,2048	173.0	151.0	158.0		1375	4.2	1.0	2	dbSNP_130	158	1,8599	1.2+/-3.3	0,1,4299	yes	missense	DES	NM_001927.3	29	2,154,6347	AA,AG,GG		0.0116,3.5633,1.2148	benign	459/471	220290674	158,12848	2203	4300	6503	SO:0001583	missense	1674				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	cytosol|Z disc	protein binding|structural constituent of cytoskeleton	g.chr2:220290674G>A	AF521879	CCDS33383.1	2q35	2014-09-17			ENSG00000175084	ENSG00000175084		"""Intermediate filaments type III"""	2770	protein-coding gene	gene with protein product	"""intermediate filament protein"""	125660				2673923, 9736733	Standard	NM_001927		Approved	CMD1I, CSM1, CSM2	uc002vll.3	P17661	OTTHUMG00000058924	ENST00000373960.3:c.1375G>A	2.37:g.220290674G>A	ENSP00000363071:p.Val459Ile						p.V459I	NM_001927	NP_001918	P17661	DESM_HUMAN		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)	8	1461	+		Renal(207;0.0183)	459			Tail.		Q15787|Q549R7|Q549R8|Q549R9|Q8IZR1|Q8IZR6|Q8NES2|Q8NEU6|Q8TAC4|Q8TCX2|Q8TD99|Q9UHN5|Q9UJ80	Missense_Mutation	SNP	ENST00000373960.3	37	c.1375G>A	CCDS33383.1	14	0.00641025641025641	12	0.024390243902439025	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	8.078	0.771762	0.16051	0.035633	1.16E-4	ENSG00000175084	ENST00000373960	D	0.96913	-4.17	5.17	4.23	0.50019	.	0.000000	0.35207	N	0.003373	T	0.77572	0.4150	L	0.41961	1.31	0.39176	D	0.962688	P	0.36587	0.559	B	0.31547	0.132	D	0.86120	0.1568	10	0.06891	T	0.86	.	13.8879	0.63719	0.0:0.1537:0.8463:0.0	.	459	P17661	DESM_HUMAN	I	459	ENSP00000363071:V459I	ENSP00000363071:V459I	V	+	1	0	DES	219998918	1.000000	0.71417	0.999000	0.59377	0.834000	0.47266	7.003000	0.76310	2.409000	0.81822	0.655000	0.94253	GTC		0.607	DES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130240.1	NM_001927	
SEMG1	6406	broad.mit.edu	37	20	43836290	43836290	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr20:43836290A>G	ENST00000372781.3	+	2	409	c.352A>G	c.(352-354)Aaa>Gaa	p.K118E	SEMG1_ENST00000244069.6_Missense_Mutation_p.K118E	NM_003007.3	NP_002998.1	P04279	SEMG1_HUMAN	semenogelin I	118	Repeat-rich region. {ECO:0000250}.				insemination (GO:0007320)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				AGACCATGATAAATCAAAAGG	0.408																																						uc010ggz.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36								Homo sapiens semenogelin II (SEMG2), mRNA.							109.0	96.0	101.0					20																	43836290		2203	4300	6503	SO:0001583	missense	6406				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	g.chr20:43836290A>G		CCDS13345.1	20q12-q13.2	2009-08-06			ENSG00000124233	ENSG00000124233			10742	protein-coding gene	gene with protein product	"""semen coagulating protein"", ""cancer/testis antigen 103"""	182140		SEMG		2912989, 15563730	Standard	NM_003007		Approved	CT103		P04279	OTTHUMG00000032565	ENST00000372781.3:c.352A>G	20.37:g.43836290A>G	ENSP00000361867:p.Lys118Glu					SEMG2_uc002xni.2_Missense_Mutation_p.K118E|SEMG2_uc002xnj.2_Missense_Mutation_p.K118E		NM_003008	NP_002999	Q02383	SEMG2_HUMAN					+		Myeloproliferative disorder(115;0.0122)						Q53ZV0|Q53ZV1|Q53ZV2|Q6X4I9|Q6Y809|Q6Y822|Q6Y823|Q86U64|Q96QM3	Missense_Mutation	SNP	ENST00000372781.3	37		CCDS13345.1	.	.	.	.	.	.	.	.	.	.	A	6.095	0.385814	0.11524	.	.	ENSG00000124233	ENST00000244069;ENST00000372781	T;T	0.12774	2.65;2.65	0.807	-1.44	0.08856	.	.	.	.	.	T	0.24392	0.0591	M	0.63843	1.955	0.09310	N	1	D;P;D	0.76494	0.998;0.941;0.999	D;P;D	0.83275	0.991;0.874;0.996	T	0.18713	-1.0328	9	0.21540	T	0.41	.	3.8456	0.08933	0.4648:0.0:0.5352:0.0	.	118;118;118	P04279-2;P04279;E7EPD3	.;SEMG1_HUMAN;.	E	118	ENSP00000244069:K118E;ENSP00000361867:K118E	ENSP00000244069:K118E	K	+	1	0	SEMG1	43269704	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.618000	0.05578	-0.603000	0.05767	-0.385000	0.06624	AAA		0.408	SEMG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079416.3	NM_003007	
MC3R	4159	broad.mit.edu	37	20	54824329	54824329	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr20:54824329G>A	ENST00000243911.2	+	1	542	c.430G>A	c.(430-432)Gtc>Atc	p.V144I		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	144					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CGACAGGTACGTCACCATCTT	0.582																																						uc002xxb.2																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26						c.(430-432)Gtc>Atc		Homo sapiens melanocortin 3 receptor (MC3R), mRNA.							185.0	160.0	168.0					20																	54824329		2203	4300	6503	SO:0001583	missense	4159				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding	g.chr20:54824329G>A		CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"""GPCR / Class A : Melanocortin receptors"""	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.430G>A	20.37:g.54824329G>A	ENSP00000243911:p.Val144Ile						p.V144I	NM_019888	NP_063941	P41968	MC3R_HUMAN	Colorectal(105;0.202)		0	542	+			181					Q4KN27|Q9H517	Missense_Mutation	SNP	ENST00000243911.2	37	c.430G>A	CCDS13449.2	.	.	.	.	.	.	.	.	.	.	G	2.958	-0.215335	0.06101	.	.	ENSG00000124089	ENST00000243911	T	0.19250	2.16	5.21	-0.878	0.10617	GPCR, rhodopsin-like superfamily (1);	0.282172	0.27130	N	0.020794	T	0.07324	0.0185	N	0.11154	0.105	0.31841	N	0.623423	B	0.21753	0.06	B	0.13407	0.009	T	0.44952	-0.9294	10	0.02654	T	1	.	8.6695	0.34140	0.681:0.0:0.319:0.0	.	181	P41968	MC3R_HUMAN	I	144	ENSP00000243911:V144I	ENSP00000243911:V144I	V	+	1	0	MC3R	54257736	1.000000	0.71417	0.993000	0.49108	0.947000	0.59692	3.003000	0.49505	-0.028000	0.13850	-0.157000	0.13467	GTC		0.582	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079786.2		
ITGB2	3689	broad.mit.edu	37	21	46320234	46320234	+	Splice_Site	SNP	C	C	T	rs201752283		TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr21:46320234C>T	ENST00000397850.2	-	8	1350		c.e8+1		ITGB2_ENST00000397854.3_Splice_Site|ITGB2_ENST00000397852.1_Splice_Site|ITGB2_ENST00000397857.1_Splice_Site|ITGB2_ENST00000355153.4_Splice_Site|ITGB2_ENST00000302347.5_Splice_Site			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)						apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.?(1)		breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	TGGGGACTTACGAATTCGTTG	0.632													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16834	0.0		0.0	False		,,,				2504	0.0					uc002zgd.2																			1	Unknown(1)	p.?(1)	central_nervous_system(1)	breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35	GRCh37	CS920765	ITGB2	S		c.e6+1		Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA.	Simvastatin(DB00641)						116.0	92.0	100.0					21																	46320234		2203	4300	6503	SO:0001630	splice_region_variant	3689				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	g.chr21:46320234C>T	AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"""CD molecules"", ""Complement system"", ""Integrins"""	6155	protein-coding gene	gene with protein product		600065	"""integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"""	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.897+1G>A	21.37:g.46320234C>T						ITGB2_uc002zgf.3_Splice_Site_p.F299_splice|ITGB2_uc011afl.1_Splice_Site_p.F221_splice|ITGB2_uc010gpw.2_Splice_Site_p.F242_splice|ITGB2_uc002zgg.2_Splice_Site_p.F299_splice	p.F299_splice	NM_001127491	NP_001120963	P05107	ITB2_HUMAN		Colorectal(79;0.0669)	6	941	-			299			VWFA.		B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Splice_Site	SNP	ENST00000397850.2	37	c.897_splice	CCDS13716.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	12.19	1.864750	0.32977	.	.	ENSG00000160255	ENST00000397852;ENST00000397857;ENST00000397854;ENST00000355153;ENST00000397850;ENST00000302347;ENST00000545414;ENST00000320216	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5843	0.76470	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ITGB2	45144662	1.000000	0.71417	0.779000	0.31741	0.008000	0.06430	7.108000	0.77055	2.546000	0.85860	0.591000	0.81541	.		0.632	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206566.2	NM_000211	Intron
POM121L10P	646074	broad.mit.edu	37	22	25041687	25041687	+	IGR	SNP	G	G	A			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr22:25041687G>A								GGT1 (16715 upstream) : PIWIL3 (73313 downstream)																							AGGGGTCTTCGGAGTCAAGAT	0.542																																						uc011ajv.2																			0											c.(316-318)cGg>cAg		Homo sapiens breakpoint cluster region pseudogene 3 (BCRP3), non-coding RNA.																																				SO:0001628	intergenic_variant	644165							g.chr22:25041687G>A																													22.37:g.25041687G>A						POM121L10P_uc003abc.2_Non-coding_Transcript	p.R106Q							2	674	+									Missense_Mutation	SNP		37	c.317G>A																																																																																				0	0.542								
SGSM1	129049	broad.mit.edu	37	22	25315903	25315903	+	Missense_Mutation	SNP	C	C	T	rs200983507		TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr22:25315903C>T	ENST00000400359.4	+	25	3308	c.3301C>T	c.(3301-3303)Cgt>Tgt	p.R1101C	SGSM1_ENST00000400358.4_Missense_Mutation_p.R1046C	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	1101						Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						GGAAGTCTACCGTGACATCAT	0.507																																						uc003abg.2																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						c.(3301-3303)Cgt>Tgt		Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.		C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4188		0,0,2094	99.0	94.0	96.0		3301,3136,2953,3118	4.5	1.0	22		96	4,8450		0,4,4223	yes	missense,missense,missense,missense	SGSM1	NM_001039948.2,NM_001098497.1,NM_001098498.1,NM_133454.2	180,180,180,180	0,4,6317	TT,TC,CC		0.0473,0.0,0.0316	probably-damaging,probably-damaging,probably-damaging,probably-damaging	1101/1149,1046/1094,985/1033,1040/1088	25315903	4,12638	2094	4227	6321	SO:0001583	missense	129049					Golgi apparatus	Rab GTPase activator activity	g.chr22:25315903C>T	AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"""Small G protein signaling modulators"""	29410	protein-coding gene	gene with protein product		611417	"""RUN and TBC1 domain containing 2"""	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.3301C>T	22.37:g.25315903C>T	ENSP00000383212:p.Arg1101Cys					SGSM1_uc010guu.1_Missense_Mutation_p.R1046C|SGSM1_uc003abh.2_Missense_Mutation_p.R1040C|SGSM1_uc003abj.2_Missense_Mutation_p.R985C|SGSM1_uc003abi.1_Missense_Mutation_p.R1021C	p.R1101C	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN			24	3458	+			1101					A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Missense_Mutation	SNP	ENST00000400359.4	37	c.3301C>T	CCDS46674.1	.	.	.	.	.	.	.	.	.	.	c	21.5	4.156348	0.78114	0.0	4.73E-4	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.29397	1.57;1.57	5.53	4.5	0.54988	Rab-GAP/TBC domain (3);	0.047332	0.85682	D	0.000000	T	0.64907	0.2641	M	0.92923	3.36	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.996;0.998;0.997;1.0	T	0.75923	-0.3146	10	0.87932	D	0	-7.6935	15.4182	0.74987	0.1395:0.8605:0.0:0.0	.	1046;1101;1118;1101	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1	.;.;.;SGSM1_HUMAN	C	1101;1046;1101	ENSP00000383211:R1046C;ENSP00000383212:R1101C	ENSP00000383211:R1046C	R	+	1	0	SGSM1	23645903	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	2.466000	0.45084	1.455000	0.47813	0.655000	0.94253	CGT		0.507	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	XM_059318	
THOC5	8563	broad.mit.edu	37	22	29913061	29913061	+	Silent	SNP	C	C	T			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr22:29913061C>T	ENST00000490103.1	-	17	1760	c.1638G>A	c.(1636-1638)ggG>ggA	p.G546G	THOC5_ENST00000397872.1_Silent_p.G546G|THOC5_ENST00000397871.1_Silent_p.G546G|CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397873.2_Silent_p.G546G	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	546					blastocyst development (GO:0001824)|cell morphogenesis (GO:0000902)|monocyte differentiation (GO:0030224)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of macrophage differentiation (GO:0045650)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|primitive hemopoiesis (GO:0060215)|regulation of mRNA export from nucleus (GO:0010793)|regulation of stem cell division (GO:2000035)|RNA splicing (GO:0008380)|stem cell division (GO:0017145)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	mRNA binding (GO:0003729)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GATTGGTGTCCCCAGCCAGTC	0.527																																						uc003afr.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1636-1638)ggG>ggA		Homo sapiens THO complex 5 (THOC5), transcript variant 1, mRNA.							153.0	140.0	144.0					22																	29913061		2203	4300	6503	SO:0001819	synonymous_variant	8563				intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding	g.chr22:29913061C>T	AB023200	CCDS13859.1	22q12	2013-02-11			ENSG00000100296	ENSG00000100296		"""THO complex subunits"""	19074	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 79"""	612733	"""chromosome 22 open reading frame 19"""	C22orf19		11979277, 8242058, 10231032, 19015024, 18373705	Standard	NM_003678		Approved	PK1.3, KIAA0983, Fmip, fSAP79	uc003afs.3	Q13769	OTTHUMG00000151291	ENST00000490103.1:c.1638G>A	22.37:g.29913061C>T						THOC5_uc003afq.3_Silent_p.G207G|THOC5_uc003afs.3_Silent_p.G546G|THOC5_uc003aft.3_Silent_p.G546G|THOC5_uc003afu.3_Silent_p.G546G	p.G546G	NM_001002878	NP_003669	Q13769	THOC5_HUMAN			17	1973	-			546					O60839|Q9UPZ5	Silent	SNP	ENST00000490103.1	37	c.1638G>A	CCDS13859.1																																																																																				0.527	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322097.1	NM_003678	
KCNH8	131096	broad.mit.edu	37	3	19575121	19575121	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr3:19575121A>T	ENST00000328405.2	+	16	3120	c.2854A>T	c.(2854-2856)Agt>Tgt	p.S952C		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	952	Ser-rich.				potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						ACTTTGTAGCAGTAATATCAC	0.532																																					NSCLC(124;1625 1765 8018 24930 42026)	uc003cbk.1																			0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						c.(2854-2856)Agt>Tgt		Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.							89.0	85.0	87.0					3																	19575121		2203	4300	6503	SO:0001583	missense	131096					integral to membrane	two-component sensor activity	g.chr3:19575121A>T	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.2854A>T	3.37:g.19575121A>T	ENSP00000328813:p.Ser952Cys					KCNH8_uc010hex.1_Missense_Mutation_p.S413C	p.S952C	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN			15	3049	+			952			Ser-rich.		B7Z2I7|Q59GQ6	Missense_Mutation	SNP	ENST00000328405.2	37	c.2854A>T	CCDS2632.1	.	.	.	.	.	.	.	.	.	.	A	11.19	1.567165	0.28003	.	.	ENSG00000183960	ENST00000328405	D	0.98717	-5.09	5.36	1.26	0.21427	.	0.463335	0.15322	U	0.268493	D	0.94807	0.8323	N	0.14661	0.345	0.19300	N	0.999979	P	0.45569	0.861	P	0.45138	0.471	D	0.90938	0.4795	9	.	.	.	.	5.4438	0.16523	0.4044:0.0:0.4724:0.1232	.	952	Q96L42	KCNH8_HUMAN	C	952	ENSP00000328813:S952C	.	S	+	1	0	KCNH8	19550125	0.080000	0.21391	0.001000	0.08648	0.627000	0.37826	0.264000	0.18497	-0.071000	0.12886	0.533000	0.62120	AGT		0.532	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633	
CCR8	1237	broad.mit.edu	37	3	39374303	39374303	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr3:39374303G>A	ENST00000326306.4	+	2	619	c.481G>A	c.(481-483)Gcc>Acc	p.A161T	CCR8_ENST00000545843.1_Missense_Mutation_p.A78T|CCR8_ENST00000414803.1_Missense_Mutation_p.R103H	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	161					cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|coreceptor activity (GO:0015026)			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		ATGGCTAACCGCCATTATGGC	0.488																																						uc010hhr.2																			0				NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21						c.(481-483)Gcc>Acc		Homo sapiens chemokine (C-C motif) receptor 8 (CCR8), mRNA.							179.0	166.0	171.0					3																	39374303		2203	4300	6503	SO:0001583	missense	1237				cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity	g.chr3:39374303G>A	D49919	CCDS2684.1	3p22	2012-08-08			ENSG00000179934	ENSG00000179934		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1609	protein-coding gene	gene with protein product		601834		CMKBRL2, CMKBR8		8816377, 8886020	Standard	NM_005201		Approved	CY6, TER1, CKR-L1, GPR-CY6, CDw198	uc010hhr.2	P51685	OTTHUMG00000131290	ENST00000326306.4:c.481G>A	3.37:g.39374303G>A	ENSP00000326432:p.Ala161Thr					CCR8_uc003cjm.2_Missense_Mutation_p.A78T|CCR8_uc021wwe.1_Missense_Mutation_p.A161T	p.A161T	NM_005201	NP_005192	P51685	CCR8_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)	1	619	+			161					B2RC64|Q3KNQ8|Q3KNR3|Q9BYX5	Missense_Mutation	SNP	ENST00000326306.4	37	c.481G>A	CCDS2684.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.492|2.492	-0.317204|-0.317204	0.05386|0.05386	.|.	.|.	ENSG00000179934|ENSG00000179934	ENST00000326306;ENST00000545843|ENST00000414803	T;T|T	0.41758|0.18810	0.99;0.99|2.19	4.76|4.76	2.01|2.01	0.26516|0.26516	GPCR, rhodopsin-like superfamily (1);|.	0.135777|.	0.48286|.	N|.	0.000195|.	T|T	0.38295|0.38295	0.1035|0.1035	M|M	0.86343|0.86343	2.81|2.81	0.19945|0.19945	N|N	0.999945|0.999945	B;B|.	0.16603|.	0.018;0.018|.	B;B|.	0.26864|.	0.027;0.074|.	T|T	0.24621|0.24621	-1.0155|-1.0155	10|7	0.72032|0.87932	D|D	0.01|0	.|.	6.9693|6.9693	0.24640|0.24640	0.1312:0.0:0.7226:0.1462|0.1312:0.0:0.7226:0.1462	.|.	161;78|.	P51685;Q3KNR3|.	CCR8_HUMAN;.|.	T|H	161;78|103	ENSP00000326432:A161T;ENSP00000440474:A78T|ENSP00000390104:R103H	ENSP00000326432:A161T|ENSP00000390104:R103H	A|R	+|+	1|2	0|0	CCR8|CCR8	39349307|39349307	0.210000|0.210000	0.23517|0.23517	0.002000|0.002000	0.10522|0.10522	0.002000|0.002000	0.02628|0.02628	2.089000|2.089000	0.41672|0.41672	0.240000|0.240000	0.21263|0.21263	-0.152000|-0.152000	0.13540|0.13540	GCC|CGC		0.488	CCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254058.2	NM_005201	
RNF123	63891	broad.mit.edu	37	3	49724141	49724144	+	5'Flank	DEL	CTCG	CTCG	-			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr3:49724141_49724144delCTCG	ENST00000327697.6	+	0	0				MST1_ENST00000383728.3_Frame_Shift_Del_p.RE199fs|MST1_ENST00000494828.2_5'Flank|AC099668.5_ENST00000563780.1_RNA|RNF123_ENST00000432042.1_5'Flank|MST1_ENST00000449682.2_Frame_Shift_Del_p.RE274fs|MST1_ENST00000545762.1_3'UTR	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123						protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		TCACAGAACTCTCGCTCGATCTGC	0.662																																						uc003cxg.3																			0		p.R275H(1)		NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(820-825)cgagagfs		Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) (MST1), mRNA.																																				SO:0001631	upstream_gene_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49724141_49724144delCTCG	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891		3.37:g.49724145_49724148delCTCG	Exception_encountered					MST1_uc011bcs.1_Frame_Shift_Del_p.S272fs|MST1_uc010hkx.2_Frame_Shift_Del_p.R195fs|MST1_uc011bct.1_Frame_Shift_Del_p.R274fs|MST1_uc011bcu.1_Non-coding_Transcript|RNF123_uc003cxh.3_5'Flank	p.R274fs	NM_020998	NP_066278	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	6	892_895	-			260					A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Frame_Shift_Del	DEL	ENST00000327697.6	37	c.820_823delCGAG	CCDS33758.1																																																																																				0.662	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064	
COL6A6	131873	broad.mit.edu	37	3	130284156	130284156	+	Missense_Mutation	SNP	G	G	A	rs182466724		TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr3:130284156G>A	ENST00000358511.6	+	3	1011	c.980G>A	c.(979-981)cGg>cAg	p.R327Q	COL6A6_ENST00000453409.2_Missense_Mutation_p.R327Q	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	327	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AATGGCAGTCGGAAGAATCAG	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		18807	0.001		0.0	False		,,,				2504	0.0					uc010htl.3																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(979-981)cGg>cAg		Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.							118.0	121.0	120.0					3																	130284156		1911	4122	6033	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130284156G>A	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.980G>A	3.37:g.130284156G>A	ENSP00000351310:p.Arg327Gln						p.R327Q	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			2	1011	+			327			Nonhelical region.|VWFA 2.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.980G>A	CCDS46911.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	19.59	3.856854	0.71834	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.87966	-2.32;-2.32	5.01	4.12	0.48240	von Willebrand factor, type A (3);	0.118006	0.38837	N	0.001548	D	0.95319	0.8481	H	0.95884	3.735	0.40284	D	0.978435	D	0.89917	1.0	D	0.72982	0.979	D	0.96804	0.9591	10	0.66056	D	0.02	.	14.6737	0.68964	0.0:0.0:0.8533:0.1467	.	327	A6NMZ7	CO6A6_HUMAN	Q	327	ENSP00000351310:R327Q;ENSP00000399236:R327Q	ENSP00000351310:R327Q	R	+	2	0	COL6A6	131766846	1.000000	0.71417	1.000000	0.80357	0.348000	0.29142	7.338000	0.79269	1.224000	0.43551	-0.314000	0.08810	CGG		0.532	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608	
AMBN	258	broad.mit.edu	37	4	71467259	71467259	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr4:71467259T>A	ENST00000322937.6	+	6	522	c.419T>A	c.(418-420)cTg>cAg	p.L140Q	AMBN_ENST00000449493.2_Missense_Mutation_p.L125Q	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	140					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|odontogenesis of dentin-containing tooth (GO:0042475)	proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|structural constituent of tooth enamel (GO:0030345)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			GCCACAGCACTGAAAGAAGCA	0.557											OREG0016218	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003hfl.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29						c.(418-420)cTg>cAg		Homo sapiens ameloblastin (enamel matrix protein) (AMBN), mRNA.							143.0	137.0	139.0					4																	71467259		2203	4300	6503	SO:0001583	missense	258				bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel	g.chr4:71467259T>A	AF209780	CCDS3543.1	4q21	2006-11-28	2006-04-27		ENSG00000178522	ENSG00000178522			452	protein-coding gene	gene with protein product		601259	"""ameloblastin, enamel matrix protein"""			9126491	Standard	NM_016519		Approved		uc003hfl.3	Q9NP70	OTTHUMG00000129913	ENST00000322937.6:c.419T>A	4.37:g.71467259T>A	ENSP00000313809:p.Leu140Gln		OREG0016218	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1130		p.L140Q	NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	Lung(101;0.235)		5	520	+			140					Q3B862|Q9H2X1|Q9H4L1	Missense_Mutation	SNP	ENST00000322937.6	37	c.419T>A	CCDS3543.1	.	.	.	.	.	.	.	.	.	.	T	2.049	-0.418158	0.04766	.	.	ENSG00000178522	ENST00000322937;ENST00000538728;ENST00000449493	T;T	0.27720	1.65;1.65	5.95	3.51	0.40186	.	0.388717	0.25138	N	0.032849	T	0.05135	0.0137	N	0.00067	-2.295	0.22389	N	0.999146	B	0.02656	0.0	B	0.04013	0.001	T	0.33523	-0.9865	10	0.19147	T	0.46	-4.2812	5.389	0.16234	0.7621:0.0:0.0822:0.1557	.	140	Q9NP70	AMBN_HUMAN	Q	140;140;125	ENSP00000313809:L140Q;ENSP00000391234:L125Q	ENSP00000313809:L140Q	L	+	2	0	AMBN	71501848	0.983000	0.35010	0.890000	0.34922	0.004000	0.04260	0.113000	0.15499	0.501000	0.28013	-0.389000	0.06534	CTG		0.557	AMBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252165.1	NM_016519	
ADAM29	11086	broad.mit.edu	37	4	175896768	175896768	+	Missense_Mutation	SNP	C	C	T	rs544557652		TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr4:175896768C>T	ENST00000359240.3	+	5	762	c.92C>T	c.(91-93)cCg>cTg	p.P31L	ADAM29_ENST00000404450.4_Missense_Mutation_p.P31L|ADAM29_ENST00000514159.1_Missense_Mutation_p.P31L|ADAM29_ENST00000445694.1_Missense_Mutation_p.P31L|RP13-577H12.2_ENST00000507525.1_RNA	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	31			P -> L (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.P31L(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CACAGCCCTCCGGATGTGGTG	0.517																																					Ovarian(140;1727 1835 21805 25838 41440)	uc003iuc.3																			2	Substitution - Missense(2)	p.P31L(4)	large_intestine(1)|kidney(1)	NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93						c.(91-93)cCg>cTg		Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.							82.0	81.0	81.0					4																	175896768		2203	4300	6503	SO:0001583	missense	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175896768C>T	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.92C>T	4.37:g.175896768C>T	ENSP00000352177:p.Pro31Leu					ADAM29_uc003iud.3_Missense_Mutation_p.P31L|ADAM29_uc010irr.3_Missense_Mutation_p.P31L|ADAM29_uc011cki.2_Missense_Mutation_p.P31L|ADAM29_uc021xuo.1_Missense_Mutation_p.P31L	p.P31L	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	4	762	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	31		P -> L (in a colorectal cancer sample; somatic mutation).			Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	c.92C>T	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	C	7.389	0.630296	0.14257	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000502940;ENST00000502305;ENST00000404450;ENST00000514159	T;T;T;D;T;T	0.81579	4.66;4.66;0.9;-1.51;4.66;4.66	4.36	1.46	0.22682	.	.	.	.	.	D	0.85124	0.5625	M	0.71206	2.165	0.09310	N	1	D	0.89917	1.0	D	0.76575	0.988	T	0.71580	-0.4550	8	.	.	.	.	2.5819	0.04820	0.1935:0.5128:0.1878:0.1059	.	31	Q9UKF5	ADA29_HUMAN	L	31	ENSP00000352177:P31L;ENSP00000414544:P31L;ENSP00000427674:P31L;ENSP00000422537:P31L;ENSP00000384229:P31L;ENSP00000423517:P31L	.	P	+	2	0	ADAM29	176133343	0.003000	0.15002	0.098000	0.21074	0.004000	0.04260	0.096000	0.15147	0.156000	0.19299	0.637000	0.83480	CCG		0.517	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding			
ZDHHC11	79844	broad.mit.edu	37	5	837585	837585	+	Silent	SNP	C	C	T			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr5:837585C>T	ENST00000283441.8	-	6	1178	c.795G>A	c.(793-795)aaG>aaA	p.K265K	ZDHHC11_ENST00000503758.2_5'UTR|ZDHHC11_ENST00000424784.2_Silent_p.K265K	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	265						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			AGGTGGTCATCTTCTTGGCCT	0.502																																						uc011cma.1																			0				haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21						c.(793-795)aaG>aaA		Homo sapiens zinc finger, DHHC-type containing 11 (ZDHHC11), mRNA.							143.0	160.0	154.0					5																	837585		2203	4300	6503	SO:0001819	synonymous_variant	79844					integral to membrane	acyltransferase activity|zinc ion binding	g.chr5:837585C>T	AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"""Zinc fingers, DHHC-type"""	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000283441.8:c.795G>A	5.37:g.837585C>T						ZDHHC11_uc010itd.1_Non-coding_Transcript	p.K265K	NM_024786	NP_079062	Q9H8X9	ZDH11_HUMAN	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)		5	1179	-			265					Q6UWR9	Silent	SNP	ENST00000283441.8	37	c.795G>A	CCDS3857.1																																																																																				0.502	ZDHHC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206681.3	NM_024786	
EDIL3	10085	broad.mit.edu	37	5	83433171	83433171	+	Splice_Site	SNP	G	G	A			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr5:83433171G>A	ENST00000296591.5	-	5	775	c.357C>T	c.(355-357)aaC>aaT	p.N119N	EDIL3_ENST00000380138.3_Splice_Site_p.N109N	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	119	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		ATTCATTTATGTCTAAGAAAA	0.338																																						uc003kio.1																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31						c.e5-1		Homo sapiens EGF-like repeats and discoidin I-like domains 3 (EDIL3), mRNA.							123.0	113.0	116.0					5																	83433171		2203	4300	6503	SO:0001630	splice_region_variant	10085				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding	g.chr5:83433171G>A	U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.356-1C>T	5.37:g.83433171G>A						EDIL3_uc003kip.1_Splice_Site_p.N109_splice	p.N119_splice	NM_005711	NP_005702	O43854	EDIL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)	5	775	-		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)	119			EGF-like 3.		B2R763|O43855|Q5D094|Q8N610	Silent	SNP	ENST00000296591.5	37	c.356_splice	CCDS4062.1																																																																																				0.338	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239258.1	NM_005711	Silent
PCDHGA10	56106	broad.mit.edu	37	5	140794507	140794507	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr5:140794507G>A	ENST00000398610.2	+	1	1765	c.1765G>A	c.(1765-1767)Ggc>Agc	p.G589S	PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_5'Flank|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	589	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCAGAGCCCGGCTACCTGGT	0.677																																						uc003lkl.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(1765-1767)Ggc>Agc		Homo sapiens protocadherin gamma subfamily A, 10 (PCDHGA10), transcript variant 1, mRNA.							76.0	91.0	86.0					5																	140794507		2200	4299	6499	SO:0001583	missense	56106				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140794507G>A		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"""Cadherins / Protocadherins : Clustered"""	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.1765G>A	5.37:g.140794507G>A	ENSP00000381611:p.Gly589Ser					PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc011day.2_Missense_Mutation_p.G589S|PCDHGC5_uc003lkm.3_5'Flank|PCDHGC5_uc003lkn.2_5'Flank	p.G589S	NM_018913	NP_061736	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1765	+			586			Cadherin 6.		Q9Y5E0	Missense_Mutation	SNP	ENST00000398610.2	37	c.1765G>A	CCDS47292.1	.	.	.	.	.	.	.	.	.	.	g	27.0	4.788871	0.90367	.	.	ENSG00000253846	ENST00000398610	T	0.68025	-0.3	5.63	5.63	0.86233	Cadherin (3);Cadherin-like (1);	.	.	.	.	D	0.87341	0.6153	H	0.94264	3.515	0.47584	D	0.999469	D;D	0.76494	0.996;0.999	D;D	0.74348	0.911;0.983	D	0.90246	0.4290	9	0.72032	D	0.01	.	19.3639	0.94454	0.0:0.0:1.0:0.0	.	589;589	Q9Y5H3-2;Q9Y5H3	.;PCDGA_HUMAN	S	589	ENSP00000381611:G589S	ENSP00000381611:G589S	G	+	1	0	PCDHGA10	140774691	1.000000	0.71417	0.431000	0.26735	0.980000	0.70556	6.546000	0.73887	2.673000	0.90976	0.650000	0.86243	GGC		0.677	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913	
TRIM38	10475	broad.mit.edu	37	6	25966964	25966964	+	Nonsense_Mutation	SNP	C	C	T	rs557556364		TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr6:25966964C>T	ENST00000357085.3	+	3	690	c.214C>T	c.(214-216)Cga>Tga	p.R72*	TRIM38_ENST00000349458.3_Nonsense_Mutation_p.R72*	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	72					negative regulation of defense response to virus (GO:0050687)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of viral entry into host cell (GO:0046598)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of interferon-beta production (GO:0032648)|signal transduction (GO:0007165)	intracellular (GO:0005622)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						GGATAGCCTCCGACCCAACAA	0.498													C|||	1	0.000199681	0.0	0.0	5008	,	,		18913	0.001		0.0	False		,,,				2504	0.0					uc003nfm.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						c.(214-216)Cga>Tga		Homo sapiens tripartite motif containing 38 (TRIM38), mRNA.							52.0	52.0	52.0					6																	25966964		2203	4300	6503	SO:0001587	stop_gained	10475				positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding	g.chr6:25966964C>T	U90547	CCDS4568.1	6p21.3	2011-04-20	2011-01-25	2002-06-07	ENSG00000112343	ENSG00000112343		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10059	protein-coding gene	gene with protein product			"""ring finger protein 15"", ""tripartite motif-containing 38"""	RNF15			Standard	XR_241880		Approved	RORET	uc003nfm.4	O00635	OTTHUMG00000014414	ENST00000357085.3:c.214C>T	6.37:g.25966964C>T	ENSP00000349596:p.Arg72*						p.R72*	NM_006355	NP_006346	O00635	TRI38_HUMAN			2	649	+			72					B2R862	Nonsense_Mutation	SNP	ENST00000357085.3	37	c.214C>T	CCDS4568.1	.	.	.	.	.	.	.	.	.	.	N	33	5.220727	0.95139	.	.	ENSG00000112343	ENST00000540262;ENST00000349458;ENST00000357085	.	.	.	4.37	0.212	0.15240	.	0.000000	0.38058	N	0.001830	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.4852	0.27427	0.4463:0.2787:0.2749:0.0	.	.	.	.	X	72	.	ENSP00000230099:R72X	R	+	1	2	TRIM38	26074943	0.000000	0.05858	0.022000	0.16811	0.002000	0.02628	-1.407000	0.02488	0.018000	0.15052	-0.238000	0.12139	CGA		0.498	TRIM38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040076.2		
HLA-F	3134	broad.mit.edu	37	6	29694676	29694676	+	IGR	SNP	C	C	T			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr6:29694676C>T	ENST00000376861.1	+	0	1544				HLA-F_ENST00000259951.7_Silent_p.S351S|HLA-F_ENST00000475996.1_Intron|HLA-F_ENST00000440587.2_Silent_p.S222S			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F						antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						CAGTGGTCAGCGGAAACTTGA	0.493																																						uc003nno.4																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(1051-1053)agC>agT		Homo sapiens major histocompatibility complex, class I, F (HLA-F), transcript variant 1, mRNA.							108.0	124.0	118.0					6																	29694676		1481	2692	4173	SO:0001628	intergenic_variant	3134				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29694676C>T	AY253269	CCDS43437.1, CCDS43438.1, CCDS43439.1	6p21.3	2013-01-11			ENSG00000204642	ENSG00000204642		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4963	protein-coding gene	gene with protein product		143110				1688605	Standard	NM_018950		Approved		uc003nno.4	P30511	OTTHUMG00000031156		6.37:g.29694676C>T						HLA-F_uc011dlx.1_Silent_p.S351S|HLA-F_uc011dly.1_Non-coding_Transcript|HLA-F-AS1_uc003nnp.2_Non-coding_Transcript|HLA-F-AS1_uc011dlz.1_Non-coding_Transcript	p.S351S	NM_001098479	NP_001091949	P30511	HLAF_HUMAN			6	1177	+			0					Q5JQI8|Q5JQJ1|Q5SPT5|Q860R0|Q8MGQ1|Q8WLP5|Q95HC0|Q9TP68	Silent	SNP	ENST00000376861.1	37	c.1053C>T	CCDS43438.1	.	.	.	.	.	.	.	.	.	.	.	1.465	-0.561381	0.03939	.	.	ENSG00000204642	ENST00000444621	.	.	.	0.62	-1.24	0.09435	.	.	.	.	.	T	0.24314	0.0589	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30851	-0.9964	4	.	.	.	.	3.1797	0.06581	0.0:0.2495:0.2869:0.4637	.	.	.	.	V	33	.	.	A	+	2	0	HLA-F	29802655	0.934000	0.31675	0.053000	0.19242	0.004000	0.04260	-0.142000	0.10311	-1.635000	0.01535	-1.891000	0.00535	GCG		0.493	HLA-F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195083.1	NM_018950	
CRISP3	10321	broad.mit.edu	37	6	49704218	49704218	+	Silent	SNP	A	A	G			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr6:49704218A>G	ENST00000393666.1	-	2	81	c.75T>C	c.(73-75)gaT>gaC	p.D25D	CRISP3_ENST00000423399.2_Intron|CRISP3_ENST00000433368.2_Silent_p.D48D|CRISP3_ENST00000371159.4_Silent_p.D56D|CRISP3_ENST00000263045.4_Silent_p.D38D			P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	25					defense response (GO:0006952)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|specific granule (GO:0042581)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TAAAAGCGGGATCCTAAGGGA	0.363																																						uc021zai.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27						c.(142-144)gaT>gaC		Homo sapiens cysteine-rich secretory protein 3 (CRISP3), transcript variant 2, mRNA.							155.0	150.0	152.0					6																	49704218		2203	4300	6503	SO:0001819	synonymous_variant	10321				innate immune response	proteinaceous extracellular matrix|specific granule		g.chr6:49704218A>G	X94323	CCDS4929.1, CCDS4929.2, CCDS55019.1	6p12.3	2008-02-05			ENSG00000096006	ENSG00000096006			16904	protein-coding gene	gene with protein product						8665901, 12223513	Standard	NM_006061		Approved	SGP28, CRISP-3, CRS3, dJ442L6.3, Aeg2	uc003ozs.3	P54108	OTTHUMG00000014823	ENST00000393666.1:c.75T>C	6.37:g.49704218A>G						CRISP3_uc003ozs.3_Silent_p.D38D	p.D48D	NM_001190986	NP_001177915	P54108	CRIS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)		2	232	-	Lung NSC(77;0.0161)		25					A8K9S1|B2R8I8|Q15512|Q3MJ82|Q53FA9|Q5JW83|Q9H108	Silent	SNP	ENST00000393666.1	37	c.144T>C																																																																																					0.363	CRISP3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006061	
POM121L12	285877	broad.mit.edu	37	7	53103391	53103391	+	Silent	SNP	C	C	T			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr7:53103391C>T	ENST00000408890.4	+	1	43	c.27C>T	c.(25-27)tcC>tcT	p.S9S		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	9										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CGGCCGAGTCCGCAGACCTCG	0.697																																						uc003tpz.3																			0				endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						c.(25-27)tcC>tcT		Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.							8.0	12.0	11.0					7																	53103391		1999	4128	6127	SO:0001819	synonymous_variant	285877							g.chr7:53103391C>T		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.27C>T	7.37:g.53103391C>T							p.S9S	NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN			0	43	+			9					Q8NDI9	Silent	SNP	ENST00000408890.4	37	c.27C>T	CCDS43584.1																																																																																				0.697	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595	
EGFR	1956	broad.mit.edu	37	7	55211080	55211080	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr7:55211080G>A	ENST00000275493.2	+	3	500	c.323G>A	c.(322-324)aGa>aAa	p.R108K	EGFR_ENST00000442591.1_Missense_Mutation_p.R108K|EGFR_ENST00000455089.1_Missense_Mutation_p.R108K|EGFR_ENST00000454757.2_Missense_Mutation_p.R55K|EGFR_ENST00000342916.3_Missense_Mutation_p.R108K|EGFR_ENST00000420316.2_Missense_Mutation_p.R108K|EGFR_ENST00000344576.2_Missense_Mutation_p.R108K	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	108			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.R108K(6)		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)	CAGATCATCAGAGGAAATATG	0.423		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		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"""		6	Substitution - Missense(6)	p.R108K(13)|p.V30_R297>G(5)	central_nervous_system(6)	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.(322-324)aGa>aAa		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						118.0	119.0	119.0					7																	55211080		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.chr7:55211080G>A		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.323G>A	7.37:g.55211080G>A	ENSP00000275493:p.Arg108Lys	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.R108K|EGFR_uc003tqi.3_Missense_Mutation_p.R108K|EGFR_uc003tqj.3_Missense_Mutation_p.R108K|EGFR_uc022adm.1_Missense_Mutation_p.R108K|EGFR_uc010kzg.2_Missense_Mutation_p.R108K|EGFR_uc022adn.1_Missense_Mutation_p.R108K|EGFR_uc011kco.2_Missense_Mutation_p.R55K	p.R108K	NM_005228	NP_005219	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	569	+	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)		108					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.323G>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	35	5.513495	0.96402	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000450046;ENST00000454757	T;T;T;T;T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44;-1.44;-1.44;-1.44;-1.44	5.31	5.31	0.75309	EGF receptor, L domain (1);	0.000000	0.85682	D	0.000000	D	0.91422	0.7293	M	0.88570	2.965	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;0.99	D	0.92718	0.6189	10	0.87932	D	0	.	17.9014	0.88905	0.0:0.0:1.0:0.0	.	108;108;108;108;108	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	K	108;108;108;108;108;108;55;55	ENSP00000415559:R108K;ENSP00000342376:R108K;ENSP00000345973:R108K;ENSP00000413843:R108K;ENSP00000275493:R108K;ENSP00000410031:R108K;ENSP00000413354:R55K;ENSP00000395243:R55K	ENSP00000275493:R108K	R	+	2	0	EGFR	55178574	1.000000	0.71417	0.772000	0.31596	0.940000	0.58332	9.785000	0.99042	2.656000	0.90262	0.655000	0.94253	AGA		0.423	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
EGFR	1956	broad.mit.edu	37	7	55233036	55233036	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr7:55233036C>T	ENST00000275493.2	+	15	1963	c.1786C>T	c.(1786-1788)Ccg>Tcg	p.P596S	EGFR_ENST00000442591.1_Missense_Mutation_p.P596S|EGFR_ENST00000455089.1_Missense_Mutation_p.P551S|EGFR_ENST00000454757.2_Missense_Mutation_p.P543S|EGFR_ENST00000342916.3_Missense_Mutation_p.P596S|EGFR_ENST00000344576.2_Missense_Mutation_p.P596S	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	596					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)			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)	CAAGACCTGCCCGGCAGGAGT	0.567		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		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"""		0		p.P596L(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						c.(1786-1788)Ccg>Tcg		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						92.0	80.0	84.0					7																	55233036		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.chr7:55233036C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1786C>T	7.37:g.55233036C>T	ENSP00000275493:p.Pro596Ser	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqi.3_Missense_Mutation_p.P596S|EGFR_uc003tqj.3_Missense_Mutation_p.P596S|EGFR_uc022adm.1_Missense_Mutation_p.P596S|EGFR_uc010kzg.2_Missense_Mutation_p.P551S|EGFR_uc022adn.1_Missense_Mutation_p.P551S|EGFR_uc011kco.2_Missense_Mutation_p.P543S|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	p.P596S	NM_005228	NP_005219	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)		14	2032	+	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)		596					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1786C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	34	5.407764	0.96051	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35;-0.35	5.87	5.87	0.94306	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.80969	0.4726	M	0.70787	2.145	0.80722	D	1	D;D;D;D	0.76494	0.997;0.999;0.999;0.999	P;P;D;P	0.64410	0.702;0.824;0.925;0.844	T	0.81780	-0.0776	10	0.72032	D	0.01	.	18.7698	0.91887	0.0:1.0:0.0:0.0	.	551;596;596;596	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	S	551;596;466;596;596;596;543;390	ENSP00000415559:P551S;ENSP00000342376:P596S;ENSP00000345973:P596S;ENSP00000275493:P596S;ENSP00000410031:P596S;ENSP00000395243:P543S	ENSP00000275493:P596S	P	+	1	0	EGFR	55200530	1.000000	0.71417	0.999000	0.59377	0.812000	0.45895	7.738000	0.84966	2.785000	0.95823	0.655000	0.94253	CCG		0.567	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
EGFR	1956	broad.mit.edu	37	7	55233043	55233043	+	Missense_Mutation	SNP	G	G	C	rs139236063		TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr7:55233043G>C	ENST00000275493.2	+	15	1970	c.1793G>C	c.(1792-1794)gGa>gCa	p.G598A	EGFR_ENST00000442591.1_Missense_Mutation_p.G598A|EGFR_ENST00000455089.1_Missense_Mutation_p.G553A|EGFR_ENST00000454757.2_Missense_Mutation_p.G545A|EGFR_ENST00000342916.3_Missense_Mutation_p.G598A|EGFR_ENST00000344576.2_Missense_Mutation_p.G598A	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	598					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.G598V(15)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		15	Substitution - Missense(15)	p.G598V(31)|p.A597T(1)|p.A597P(1)	central_nervous_system(15)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(1792-1794)gGa>gCa		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						96.0	84.0	88.0					7																	55233043		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55233043G>C		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1793G>C	7.37:g.55233043G>C	ENSP00000275493:p.Gly598Ala	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqi.3_Missense_Mutation_p.G598A|EGFR_uc003tqj.3_Missense_Mutation_p.G598A|EGFR_uc022adm.1_Missense_Mutation_p.G598A|EGFR_uc010kzg.2_Missense_Mutation_p.G553A|EGFR_uc022adn.1_Missense_Mutation_p.G553A|EGFR_uc011kco.2_Missense_Mutation_p.G545A|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	p.G598A	NM_005228	NP_005219	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)		14	2039	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		598					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1793G>C	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.727885	0.89390	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1;1.1	5.87	5.87	0.94306	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.70850	0.3271	M	0.87038	2.855	0.80722	D	1	D;D;D;D	0.89917	0.991;0.999;0.996;1.0	P;D;D;D	0.79108	0.557;0.952;0.95;0.992	T	0.74748	-0.3560	10	0.72032	D	0.01	.	18.7698	0.91887	0.0:0.0:1.0:0.0	.	553;598;598;598	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	A	553;598;468;598;598;598;545;392	ENSP00000415559:G553A;ENSP00000342376:G598A;ENSP00000345973:G598A;ENSP00000275493:G598A;ENSP00000410031:G598A;ENSP00000395243:G545A	ENSP00000275493:G598A	G	+	2	0	EGFR	55200537	1.000000	0.71417	0.454000	0.27019	0.665000	0.39181	7.905000	0.87416	2.785000	0.95823	0.655000	0.94253	GGA		0.567	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
PCLO	27445	broad.mit.edu	37	7	82764904	82764904	+	Silent	SNP	C	C	T	rs377565205		TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr7:82764904C>T	ENST00000333891.9	-	3	2299	c.1962G>A	c.(1960-1962)ccG>ccA	p.P654P	PCLO_ENST00000423517.2_Silent_p.P654P	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.P654P(2)|p.P600P(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGGGTGATGACGGAACTGGAG	0.478																																						uc003uhx.2																			3	Substitution - coding silent(3)	p.P654P(3)|p.P600P(1)	endometrium(3)	breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(1960-1962)ccG>ccA		Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.		C	,	1,3991		0,1,1995	82.0	82.0	82.0		1962,1962	-9.0	0.3	7		82	0,8322		0,0,4161	no	coding-synonymous,coding-synonymous	PCLO	NM_014510.2,NM_033026.5	,	0,1,6156	TT,TC,CC		0.0,0.0251,0.0081	,	654/4936,654/5143	82764904	1,12313	1996	4161	6157	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82764904C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.1962G>A	7.37:g.82764904C>T						PCLO_uc003uhv.2_Silent_p.P654P	p.P654P	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			2	2251	-			600			Pro-rich.			Silent	SNP	ENST00000333891.9	37	c.1962G>A	CCDS47630.1																																																																																				0.478	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
NPTX2	4885	broad.mit.edu	37	7	98254472	98254472	+	Silent	SNP	C	C	T	rs149672697		TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr7:98254472C>T	ENST00000265634.3	+	3	1047	c.882C>T	c.(880-882)aaC>aaT	p.N294N		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	294	Pentaxin.				synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.N294N(1)		breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			TGCTCATCAACGACAAGGTGA	0.667																																						uc003upl.2																			1	Substitution - coding silent(1)	p.N294N(2)	central_nervous_system(1)	breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(880-882)aaC>aaT		Homo sapiens neuronal pentraxin II (NPTX2), mRNA.		C		0,4406		0,0,2203	58.0	48.0	51.0		882	-9.3	0.6	7	dbSNP_134	51	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	NPTX2	NM_002523.2		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		294/432	98254472	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	4885				synaptic transmission	extracellular region	metal ion binding|sugar binding	g.chr7:98254472C>T		CCDS5657.1	7q21.3-q22.1	2008-04-30			ENSG00000106236	ENSG00000106236			7953	protein-coding gene	gene with protein product	"""apexin"""	600750				8530029	Standard	NM_002523		Approved		uc003upl.2	P47972	OTTHUMG00000154369	ENST00000265634.3:c.882C>T	7.37:g.98254472C>T							p.N294N	NM_002523	NP_002514	P47972	NPTX2_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		2	1059	+	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		294			Pentaxin.		A4D267|Q86XV7|Q96G70	Silent	SNP	ENST00000265634.3	37	c.882C>T	CCDS5657.1																																																																																				0.667	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334982.1	NM_002523	
LAMB1	3912	broad.mit.edu	37	7	107600136	107600136	+	Splice_Site	SNP	G	G	A	rs140619520		TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr7:107600136G>A	ENST00000222399.6	-	19	2688	c.2458C>T	c.(2458-2460)Cct>Tct	p.P820S	LAMB1_ENST00000393561.1_Splice_Site_p.P844S|LAMB1_ENST00000393560.1_Missense_Mutation_p.R820C	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	820	Laminin EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)	p.P820S(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						AGGAACCTACGTTTGCATCCA	0.527																																						uc003vev.2																			1	Substitution - Missense(1)	p.P820S(1)	prostate(1)	NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						c.e17+1		Homo sapiens laminin, beta 1 (LAMB1), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	G	SER/PRO	0,4406		0,0,2203	64.0	62.0	63.0		2458	0.1	1.0	7	dbSNP_134	63	2,8598	2.2+/-6.3	0,2,4298	yes	missense-near-splice	LAMB1	NM_002291.2	74	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	820/1787	107600136	2,13004	2203	4300	6503	SO:0001630	splice_region_variant	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107600136G>A	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.2458+1C>T	7.37:g.107600136G>A						LAMB1_uc003vew.2_Splice_Site_p.P820_splice|LAMB1_uc003vex.3_Missense_Mutation_p.R820C	p.P844_splice	NM_002291	NP_002282	P07942	LAMB1_HUMAN			17	2691	-			820			Laminin EGF-like 7.		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	c.2530_splice	CCDS5750.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.628|8.628	0.893092|0.893092	0.17613|0.17613	0.0|0.0	2.33E-4|2.33E-4	ENSG00000091136|ENSG00000091136	ENST00000393561;ENST00000222399|ENST00000393560	T;T|T	0.55413|0.39997	0.52;0.52|1.05	5.13|5.13	0.14|0.14	0.14804|0.14804	EGF-like, laminin (2);|.	.|.	.|.	.|.	.|.	T|T	0.31670|0.31670	0.0804|0.0804	L|L	0.48260|0.48260	1.515|1.515	0.33301|0.33301	D|D	0.56488|0.56488	P;P|B	0.45044|0.09022	0.812;0.849|0.002	B;B|B	0.33750|0.04013	0.103;0.169|0.001	T|T	0.24048|0.24048	-1.0171|-1.0171	9|9	0.18710|0.44086	T|T	0.47|0.13	.|.	6.5584|6.5584	0.22474|0.22474	0.2551:0.2162:0.5287:0.0|0.2551:0.2162:0.5287:0.0	.|.	820;844|820	P07942;G3XAI2|E7EPA6	LAMB1_HUMAN;.|.	S|C	844;820|820	ENSP00000377191:P844S;ENSP00000222399:P820S|ENSP00000377190:R820C	ENSP00000222399:P820S|ENSP00000377190:R820C	P|R	-|-	1|1	0|0	LAMB1|LAMB1	107387372|107387372	0.950000|0.950000	0.32346|0.32346	0.980000|0.980000	0.43619|0.43619	0.330000|0.330000	0.28571|0.28571	0.007000|0.007000	0.13174|0.13174	-0.147000|-0.147000	0.11254|0.11254	-0.217000|-0.217000	0.12591|0.12591	CCT|CGT		0.527	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291	Missense_Mutation
ASB15	142685	broad.mit.edu	37	7	123276864	123276864	+	Splice_Site	SNP	G	G	A			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr7:123276864G>A	ENST00000451558.1	+	14	2117	c.1596G>A	c.(1594-1596)gaG>gaA	p.E532E	ASB15_ENST00000434204.1_Splice_Site_p.E532E|ASB15_ENST00000540573.1_Splice_Site_p.E532E|ASB15_ENST00000451215.1_Splice_Site_p.E532E|ASB15_ENST00000275699.3_Splice_Site_p.E532E			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	532	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						TTCTTTTAGAGAATCCTTGTT	0.383																																						uc003vku.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						c.e12-1		Homo sapiens ankyrin repeat and SOCS box containing 15 (ASB15), mRNA.							55.0	64.0	61.0					7																	123276864		2203	4299	6502	SO:0001630	splice_region_variant	142685				intracellular signal transduction			g.chr7:123276864G>A	AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809		"""Ankyrin repeat domain containing"""	19767	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 15"""			12076535	Standard	XM_005250149		Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.1595-1G>A	7.37:g.123276864G>A						ASB15_uc003vkw.1_Splice_Site_p.E532_splice	p.E532_splice	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN			12	1887	+			532			SOCS box.		Q3ZCP3|Q3ZCP5|Q68D37	Silent	SNP	ENST00000451558.1	37	c.1595_splice	CCDS34742.1																																																																																				0.383	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347493.1		Silent
NUP205	23165	broad.mit.edu	37	7	135300745	135300745	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr7:135300745G>A	ENST00000285968.6	+	24	3418	c.3392G>A	c.(3391-3393)cGt>cAt	p.R1131H		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1131					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TCTCTGAATCGTCAGCGGTCA	0.403																																						uc003vsw.3																			0				breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(3391-3393)cGt>cAt		Homo sapiens nucleoporin 205kDa (NUP205), mRNA.							143.0	129.0	134.0					7																	135300745		2203	4300	6503	SO:0001583	missense	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135300745G>A	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.3392G>A	7.37:g.135300745G>A	ENSP00000285968:p.Arg1131His						p.R1131H	NM_015135	NP_055950	Q92621	NU205_HUMAN			23	3423	+			1131					A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	c.3392G>A	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	G	36	5.690300	0.96793	.	.	ENSG00000155561	ENST00000285968	T	0.32988	1.43	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.54532	0.1864	L	0.56769	1.78	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.32851	-0.9891	10	0.37606	T	0.19	-6.877	20.8598	0.99761	0.0:0.0:1.0:0.0	.	1131	Q92621	NU205_HUMAN	H	1131	ENSP00000285968:R1131H	ENSP00000285968:R1131H	R	+	2	0	NUP205	134951285	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	9.410000	0.97335	2.937000	0.99478	0.650000	0.86243	CGT		0.403	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1		
TRPA1	8989	broad.mit.edu	37	8	72948640	72948640	+	Missense_Mutation	SNP	G	G	A	rs538354055		TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr8:72948640G>A	ENST00000262209.4	-	21	2645	c.2438C>T	c.(2437-2439)aCg>aTg	p.T813M	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000537896.1_Intron|TRPA1_ENST00000519720.1_5'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	813					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GATGCCCGTCGTGTAGATAAT	0.363													G|||	1	0.000199681	0.0	0.0	5008	,	,		18138	0.0		0.001	False		,,,				2504	0.0					uc003xza.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98						c.(2437-2439)aCg>aTg		Homo sapiens transient receptor potential cation channel, subfamily A, member 1 (TRPA1), mRNA.	Menthol(DB00825)						60.0	60.0	60.0					8																	72948640		2203	4300	6503	SO:0001583	missense	8989					integral to plasma membrane		g.chr8:72948640G>A	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.2438C>T	8.37:g.72948640G>A	ENSP00000262209:p.Thr813Met					LOC100132891_uc011lff.2_Intron|LOC100132891_uc022avt.1_Intron|LOC100132891_uc003xyy.3_Intron	p.T813M	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		20	2613	-			813					A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.2438C>T	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	G	9.315	1.056535	0.19907	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.32753	1.44;1.44	4.83	3.96	0.45880	Ion transport (1);	0.257775	0.38381	N	0.001705	T	0.49660	0.1570	M	0.73598	2.24	0.32639	N	0.520996	D	0.89917	1.0	D	0.72982	0.979	T	0.61322	-0.7086	10	0.59425	D	0.04	-10.7696	6.7065	0.23254	0.1594:0.1466:0.694:0.0	.	813	O75762	TRPA1_HUMAN	M	665;813	ENSP00000428151:T665M;ENSP00000262209:T813M	ENSP00000262209:T813M	T	-	2	0	TRPA1	73111194	0.996000	0.38824	0.891000	0.34965	0.085000	0.17905	2.223000	0.42936	1.023000	0.39654	0.460000	0.39030	ACG		0.363	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332	
SPTAN1	6709	broad.mit.edu	37	9	131395212	131395212	+	Missense_Mutation	SNP	T	T	A	rs148173166		TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr9:131395212T>A	ENST00000372731.4	+	55	7381	c.7271T>A	c.(7270-7272)gTg>gAg	p.V2424E	SPTAN1_ENST00000358161.5_Missense_Mutation_p.V2429E|SPTAN1_ENST00000372739.3_Missense_Mutation_p.V2429E|WDR34_ENST00000483181.1_5'Flank	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	2424	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						AAGCCTTACGTGACCAAGGAG	0.547																																					NSCLC(120;833 1744 2558 35612 37579)	uc004bvl.4																			0				NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						c.(7270-7272)gTg>gAg		Homo sapiens spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) (SPTAN1), transcript variant 2, mRNA.							86.0	92.0	90.0					9																	131395212		2203	4300	6503	SO:0001583	missense	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131395212T>A	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.7271T>A	9.37:g.131395212T>A	ENSP00000361816:p.Val2424Glu					SPTAN1_uc004bvm.4_Missense_Mutation_p.V2429E|SPTAN1_uc004bvn.4_Missense_Mutation_p.V2404E|SPTAN1_uc004bvo.4_Missense_Mutation_p.V191E	p.V2424E	NM_003127	NP_003118	Q13813	SPTA2_HUMAN			54	7413	+			2424			EF-hand 3.		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.7271T>A	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	T	33	5.237549	0.95240	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.61158	0.13;0.13;0.13	5.69	5.69	0.88448	EF-hand, Ca insensitive (1);EF-hand-like domain (1);	0.133431	0.50627	D	0.000111	T	0.72374	0.3452	M	0.86178	2.8	0.80722	D	1	D;D;B	0.58620	0.983;0.983;0.01	P;P;B	0.52267	0.694;0.694;0.027	T	0.78643	-0.2124	10	0.87932	D	0	.	15.9404	0.79750	0.0:0.0:0.0:1.0	.	2404;2429;2424	Q13813-3;Q13813-2;Q13813	.;.;SPTA2_HUMAN	E	2429;2424;2429;2404	ENSP00000350882:V2429E;ENSP00000361816:V2424E;ENSP00000361824:V2429E	ENSP00000350882:V2429E	V	+	2	0	SPTAN1	130435033	1.000000	0.71417	0.992000	0.48379	0.992000	0.81027	7.497000	0.81536	2.171000	0.68590	0.459000	0.35465	GTG		0.547	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127	
C9orf171	389799	broad.mit.edu	37	9	135374872	135374872	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr9:135374872G>C	ENST00000343036.2	+	4	565	c.517G>C	c.(517-519)Gag>Cag	p.E173Q	C9orf171_ENST00000393216.2_Missense_Mutation_p.E137Q|C9orf171_ENST00000393215.3_Missense_Mutation_p.E137Q	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	173										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						GACTGCCCGGGAGAACTTGCT	0.592																																						uc004cbn.3																			0		p.R172W(1)		large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						c.(517-519)Gag>Cag		Homo sapiens chromosome 9 open reading frame 171 (C9orf171), mRNA.							86.0	86.0	86.0					9																	135374872		2203	4300	6503	SO:0001583	missense	389799							g.chr9:135374872G>C	AK128819	CCDS6949.1, CCDS65167.1	9q34.13	2012-04-03			ENSG00000188523	ENSG00000188523			33776	protein-coding gene	gene with protein product							Standard	NM_207417		Approved	FLJ46082	uc004cbn.3	Q6ZQR2	OTTHUMG00000131684	ENST00000343036.2:c.517G>C	9.37:g.135374872G>C	ENSP00000343290:p.Glu173Gln					C9orf171_uc004cbo.3_Missense_Mutation_p.E137Q	p.E173Q	NM_207417	NP_997300	Q6ZQR2	CI171_HUMAN			3	565	+			173					Q147X1	Missense_Mutation	SNP	ENST00000343036.2	37	c.517G>C	CCDS6949.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.675064	0.67928	.	.	ENSG00000188523	ENST00000393215;ENST00000343036;ENST00000393216	T;T;T	0.29655	1.56;1.56;1.56	5.26	5.26	0.73747	.	0.127315	0.49916	D	0.000126	T	0.44891	0.1315	L	0.46157	1.445	0.35463	D	0.796658	D;D	0.71674	0.998;0.992	P;P	0.59424	0.799;0.857	T	0.53975	-0.8362	10	0.54805	T	0.06	.	15.4305	0.75092	0.0:0.139:0.861:0.0	.	137;173	Q6ZQR2-2;Q6ZQR2	.;CI171_HUMAN	Q	137;173;137	ENSP00000376908:E137Q;ENSP00000343290:E173Q;ENSP00000376909:E137Q	ENSP00000343290:E173Q	E	+	1	0	C9orf171	134364693	1.000000	0.71417	0.995000	0.50966	0.760000	0.43138	4.895000	0.63214	2.618000	0.88619	0.561000	0.74099	GAG		0.592	C9orf171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254589.1	NM_207417	
FAM46D	169966	broad.mit.edu	37	X	79699116	79699116	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chrX:79699116A>T	ENST00000308293.5	+	3	1317	c.1078A>T	c.(1078-1080)Agg>Tgg	p.R360W	FAM46D_ENST00000538312.1_Missense_Mutation_p.R360W	NM_152630.4	NP_689843.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	360										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						AGCTGAGGCAAGGTACCCTAT	0.428																																						uc022bzm.1																			0				kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(1078-1080)Agg>Tgg		Homo sapiens family with sequence similarity 46, member D (FAM46D), transcript variant 2, mRNA.							67.0	59.0	61.0					X																	79699116		2202	4298	6500	SO:0001583	missense	169966							g.chrX:79699116A>T	BX537938	CCDS14446.1	Xq21.1	2009-08-18			ENSG00000174016	ENSG00000174016			28399	protein-coding gene	gene with protein product	"""cancer/testis antigen 112"""					12477932	Standard	NM_152630		Approved	MGC26999, CT1.26, CT112	uc004edl.1	Q8NEK8	OTTHUMG00000021902	ENST00000308293.5:c.1078A>T	X.37:g.79699116A>T	ENSP00000308575:p.Arg360Trp					FAM46D_uc004edl.1_Missense_Mutation_p.R360W|FAM46D_uc004edm.2_Missense_Mutation_p.R360W	p.R360W	NM_152630	NP_689843	Q8NEK8	FA46D_HUMAN			0	1078	+			360					B2R9Q6|Q7Z3F6|Q8NHU1	Missense_Mutation	SNP	ENST00000308293.5	37	c.1078A>T	CCDS14446.1	.	.	.	.	.	.	.	.	.	.	G	2.901	-0.227441	0.06022	.	.	ENSG00000174016	ENST00000538312;ENST00000308293	T;T	0.22945	1.93;1.93	4.69	2.34	0.29019	.	0.578475	0.16488	U	0.212251	T	0.13372	0.0324	N	0.08118	0	0.09310	N	1	B	0.26002	0.139	B	0.32393	0.145	T	0.28396	-1.0045	10	0.39692	T	0.17	0.4408	6.9851	0.24723	0.6721:0.0:0.3279:0.0	.	360	Q8NEK8	FA46D_HUMAN	W	360	ENSP00000443410:R360W;ENSP00000308575:R360W	ENSP00000308575:R360W	R	+	1	2	FAM46D	79585772	0.121000	0.22262	0.001000	0.08648	0.003000	0.03518	0.587000	0.23909	-0.014000	0.14175	-0.180000	0.13094	AGG		0.428	FAM46D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057338.1	NM_152630	
SPRY3	10251	broad.mit.edu	37	X	155004303	155004303	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chrX:155004303G>A	ENST00000302805.2	+	2	1201	c.770G>A	c.(769-771)cGa>cAa	p.R257Q		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	257	Cys-rich.|SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				multicellular organismal development (GO:0007275)|regulation of signal transduction (GO:0009966)	cytoplasm (GO:0005737)|membrane (GO:0016020)						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AGCCTCCGGCGACCAGGCTGC	0.582																																						uc022cio.1																			0											c.(769-771)cGa>cAa		Homo sapiens sprouty homolog 3 (Drosophila) (SPRY3), mRNA.							155.0	149.0	151.0					X																	155004303		2203	4296	6499	SO:0001583	missense	10251				multicellular organismal development|regulation of signal transduction	cytoplasm|membrane		g.chrX:155004303G>A	AF041038	CCDS14769.4	Xq28 and Yq12	2008-02-05	2001-11-28		ENSG00000168939	ENSG00000168939		"""Pseudoautosomal regions / PAR2"""	11271	protein-coding gene	gene with protein product	"""antagonist of FGF signaling"""	300531	"""sprouty (Drosophila) homolog 2"""			9458049	Standard	NM_005840		Approved	HSPRY3	uc004fnq.1	O43610	OTTHUMG00000022675	ENST00000302805.2:c.770G>A	X.37:g.155004303G>A	ENSP00000302978:p.Arg257Gln					SPRY3_uc004fnq.1_Missense_Mutation_p.R257Q	p.R257Q	NM_005840	NP_005831	O43610	SPY3_HUMAN			0	770	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		257			Cys-rich.|SPR.		A8K0H8	Missense_Mutation	SNP	ENST00000302805.2	37	c.770G>A	CCDS14769.4	.	.	.	.	.	.	.	.	.	.	G	20.3	3.975182	0.74360	.	.	ENSG00000168939	ENST00000302805	T	0.61040	0.14	2.94	2.94	0.34122	.	0.000000	0.64402	D	0.000007	T	0.71492	0.3346	.	.	.	0.09310	N	1	D	0.65815	0.995	D	0.76575	0.988	T	0.61598	-0.7030	9	0.72032	D	0.01	-18.0774	10.9825	0.47504	0.0:0.0:1.0:0.0	.	257	O43610	SPY3_HUMAN	Q	257	ENSP00000302978:R257Q	ENSP00000302978:R257Q	R	+	2	0	SPRY3	154657497	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.117000	0.94347	1.494000	0.48533	0.279000	0.19357	CGA		0.582	SPRY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058823.2	NM_005840	
