#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
RASL11B	65997	broad.mit.edu	37	4	53731672	53731672	+	Silent	SNP	C	C	T			TCGA-QR-A6H6-01A-11D-A35D-08	TCGA-QR-A6H6-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac18eca3-999a-48c2-9f96-76b69e4b8395	ef2fc228-103c-4c7e-b676-179029a08831	g.chr4:53731672C>T	ENST00000248706.3	+	4	665	c.447C>T	c.(445-447)gtC>gtT	p.V149V	RASL11B_ENST00000505041.1_3'UTR	NM_023940.2	NP_076429.1			RAS-like, family 11, member B											autonomic_ganglia(1)|central_nervous_system(1)|lung(5)|ovary(1)|stomach(1)	9			LUSC - Lung squamous cell carcinoma(32;0.0302)			CTGTGGTGGTCGTGGCCAACA	0.547																																						ENST00000248706.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|lung(5)|ovary(1)|stomach(1)	9						c.(445-447)gtC>gtT		RAS-like, family 11, member B							108.0	100.0	103.0					4																	53731672		2203	4300	6503	SO:0001819	synonymous_variant	65997				small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity	g.chr4:53731672C>T	BK001672	CCDS3490.1	4q12	2014-05-09			ENSG00000128045	ENSG00000128045			23804	protein-coding gene	gene with protein product		612404					Standard	NM_023940		Approved		uc003gzt.3	Q9BPW5	OTTHUMG00000102097	ENST00000248706.3:c.447C>T	4.37:g.53731672C>T						RASL11B_ENST00000505041.1_3'UTR	p.V149V	NM_023940.2	NP_076429.1	Q9BPW5	RSLBB_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.0302)		4	665	+			149			Small GTPase-like.			Silent	SNP	ENST00000248706.3	37	c.447C>T	CCDS3490.1																																																																																				0.547	RASL11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219931.2	NM_023940		5	138	0	0	0	1	0	5	138				
HRNR	388697	broad.mit.edu	37	1	152192788	152192788	+	Silent	SNP	G	G	A			TCGA-QR-A6H6-01A-11D-A35D-08	TCGA-QR-A6H6-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac18eca3-999a-48c2-9f96-76b69e4b8395	ef2fc228-103c-4c7e-b676-179029a08831	g.chr1:152192788G>A	ENST00000368801.2	-	3	1392	c.1317C>T	c.(1315-1317)tcC>tcT	p.S439S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	439					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATGTTGGCCGGAGCTGGGAG	0.617																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(1315-1317)tcC>tcT		hornerin							93.0	97.0	96.0					1																	152192788		2203	4300	6503	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152192788G>A	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1317C>T	1.37:g.152192788G>A						FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.S439S	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1392	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		439					Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.1317C>T	CCDS30859.1																																																																																				0.617	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		4	131	0	0	0	1	0	4	131				
ANKRD36	375248	broad.mit.edu	37	2	97869931	97869931	+	Missense_Mutation	SNP	A	A	T	rs76309140		TCGA-QR-A6H6-01A-11D-A35D-08	TCGA-QR-A6H6-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac18eca3-999a-48c2-9f96-76b69e4b8395	ef2fc228-103c-4c7e-b676-179029a08831	g.chr2:97869931A>T	ENST00000461153.2	+	50	3236	c.2992A>T	c.(2992-2994)Aca>Tca	p.T998S	ANKRD36_ENST00000420699.2_Missense_Mutation_p.T998S			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	998								p.T998S(13)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CATTCAGGCTACAAGTGATGA	0.289																																						ENST00000420699.2																			13	Substitution - Missense(13)	p.T998S(13)	kidney(6)|endometrium(4)|prostate(3)	endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(2992-2994)Aca>Tca		ankyrin repeat domain 36							37.0	44.0	42.0					2																	97869931		692	1587	2279	SO:0001583	missense	375248							g.chr2:97869931A>T	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.2992A>T	2.37:g.97869931A>T	ENSP00000419530:p.Thr998Ser					ANKRD36_ENST00000461153.2_Missense_Mutation_p.T998S	p.T998S	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN			50	3236	+			998					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	ENST00000461153.2	37	c.2992A>T	CCDS54379.1	.	.	.	.	.	.	.	.	.	.	.	3.819	-0.038219	0.07497	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000461694	T;T	0.32753	1.44;1.44	0.63	-0.824	0.10812	.	.	.	.	.	T	0.14056	0.0340	L	0.27053	0.805	0.09310	N	1	P	0.40476	0.718	B	0.28849	0.095	T	0.12837	-1.0532	8	0.38643	T	0.18	.	.	.	.	.	998	A6QL64	AN36A_HUMAN	S	998;998;360	ENSP00000419530:T998S;ENSP00000391950:T998S	ENSP00000391950:T998S	T	+	1	0	ANKRD36	97233658	0.019000	0.18553	0.011000	0.14972	0.022000	0.10575	-0.850000	0.04317	-0.324000	0.08589	0.147000	0.16070	ACA		0.289	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			4	22	0	0	0	1	0	4	22				
LOC645752	645752	broad.mit.edu	37	15	78211548	78211548	+	lincRNA	SNP	T	T	C			TCGA-QR-A6H6-01A-11D-A35D-08	TCGA-QR-A6H6-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac18eca3-999a-48c2-9f96-76b69e4b8395	ef2fc228-103c-4c7e-b676-179029a08831	g.chr15:78211548T>C	ENST00000565869.1	+	0	111				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_RNA																							CCACCTGGGATTGGAGCTTTC	0.562																																						ENST00000565869.1																			0																																																			645752							g.chr15:78211548T>C																													15.37:g.78211548T>C						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.562	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			4	135	0	0	0	1	0	4	135				
MROH2B	133558	broad.mit.edu	37	5	41038870	41038870	+	Missense_Mutation	SNP	G	G	T	rs202186507		TCGA-QR-A6H6-01A-11D-A35D-08	TCGA-QR-A6H6-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac18eca3-999a-48c2-9f96-76b69e4b8395	ef2fc228-103c-4c7e-b676-179029a08831	g.chr5:41038870G>T	ENST00000399564.4	-	21	2632	c.2182C>A	c.(2182-2184)Caa>Aaa	p.Q728K	MROH2B_ENST00000506092.2_Missense_Mutation_p.Q283K	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	728																	GACAGGACTTGGGATATGATA	0.517																																						ENST00000399564.4																			0											c.(2182-2184)Caa>Aaa		maestro heat-like repeat family member 2B							66.0	67.0	67.0					5																	41038870		1948	4146	6094	SO:0001583	missense	133558							g.chr5:41038870G>T		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.2182C>A	5.37:g.41038870G>T	ENSP00000382476:p.Gln728Lys					MROH2B_ENST00000506092.2_Missense_Mutation_p.Q283K	p.Q728K	NM_173489.4	NP_775760.3					21	2632	-								Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.2182C>A	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	G	8.168	0.791127	0.16258	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.05996	3.36;3.36	5.73	5.73	0.89815	Armadillo-type fold (1);	0.270105	0.26796	N	0.022444	T	0.04137	0.0115	N	0.15975	0.35	0.31701	N	0.640711	P	0.36837	0.571	B	0.35770	0.21	T	0.10314	-1.0635	10	0.05721	T	0.95	.	15.7506	0.77983	0.0:0.0:1.0:0.0	.	728	Q7Z745	HTRB2_HUMAN	K	283;433;728	ENSP00000441504:Q283K;ENSP00000382476:Q728K	ENSP00000296803:Q433K	Q	-	1	0	HEATR7B2	41074627	0.998000	0.40836	0.975000	0.42487	0.116000	0.19942	3.036000	0.49767	2.861000	0.98227	0.655000	0.94253	CAA		0.517	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		3	33	1	0	0.115264	1	0.115264	3	33				
ZSCAN31	64288	broad.mit.edu	37	6	28294493	28294493	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A6H6-01A-11D-A35D-08	TCGA-QR-A6H6-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac18eca3-999a-48c2-9f96-76b69e4b8395	ef2fc228-103c-4c7e-b676-179029a08831	g.chr6:28294493C>T	ENST00000414429.1	-	8	1574	c.671G>A	c.(670-672)aGc>aAc	p.S224N	ZSCAN31_ENST00000439158.1_Missense_Mutation_p.S224N|ZSCAN31_ENST00000396838.2_Missense_Mutation_p.S224N|ZSCAN31_ENST00000344279.6_Missense_Mutation_p.S224N|ZSCAN31_ENST00000446474.1_Missense_Mutation_p.S65N|ZSCAN31_ENST00000481934.1_5'UTR			Q96LW9	ZSC31_HUMAN	zinc finger and SCAN domain containing 31	224					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TTCTGCCTTGCTGTCTCGTTT	0.423																																						ENST00000414429.1																			0											c.(670-672)aGc>aAc		zinc finger and SCAN domain containing 31							135.0	128.0	131.0					6																	28294493		2203	4300	6503	SO:0001583	missense	64288							g.chr6:28294493C>T		CCDS4649.1, CCDS59001.1	6p	2013-01-09	2013-01-08	2013-01-08	ENSG00000235109	ENSG00000235109		"""-"", ""Zinc fingers, C2H2-type"""	14097	protein-coding gene	gene with protein product		610794	"""zinc finger protein 310 pseudogene"", ""zinc finger protein 323"""	ZNF310P, ZNF323			Standard	NM_001135216		Approved		uc003nla.3	Q96LW9	OTTHUMG00000014518	ENST00000414429.1:c.671G>A	6.37:g.28294493C>T	ENSP00000390076:p.Ser224Asn					ZSCAN31_ENST00000396838.2_Missense_Mutation_p.S224N|ZSCAN31_ENST00000481934.1_5'UTR|ZSCAN31_ENST00000446474.1_Missense_Mutation_p.S65N|ZSCAN31_ENST00000439158.1_Missense_Mutation_p.S224N|ZSCAN31_ENST00000344279.6_Missense_Mutation_p.S224N	p.S224N							8	1574	-								Q6P178|Q8WWS5	Missense_Mutation	SNP	ENST00000414429.1	37	c.671G>A	CCDS4649.1	.	.	.	.	.	.	.	.	.	.	C	5.059	0.196595	0.09599	.	.	ENSG00000235109	ENST00000396838;ENST00000439158;ENST00000414429;ENST00000446474;ENST00000344279;ENST00000435857;ENST00000414431	T;T;T;T;T;T;T	0.05925	3.37;3.37;3.37;3.37;3.37;3.43;5.83	4.13	0.973	0.19710	.	.	.	.	.	T	0.01661	0.0053	L	0.39397	1.21	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.45440	-0.9261	9	0.32370	T	0.25	.	6.5351	0.22348	0.3082:0.5959:0.0:0.0959	.	224	Q96LW9	ZN323_HUMAN	N	224;224;224;65;224;65;65	ENSP00000380050:S224N;ENSP00000413705:S224N;ENSP00000390076:S224N;ENSP00000402937:S65N;ENSP00000345339:S224N;ENSP00000391235:S65N;ENSP00000407529:S65N	ENSP00000345339:S224N	S	-	2	0	ZNF323	28402472	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	-0.315000	0.08081	0.292000	0.22492	-0.518000	0.04402	AGC		0.423	ZSCAN31-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346804.1	NM_030899		6	124	0	0	0	1	0	6	124				
TEAD4	7004	broad.mit.edu	37	12	3131089	3131089	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A6H6-01A-11D-A35D-08	TCGA-QR-A6H6-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac18eca3-999a-48c2-9f96-76b69e4b8395	ef2fc228-103c-4c7e-b676-179029a08831	g.chr12:3131089G>A	ENST00000397122.2	+	8	701	c.416G>A	c.(415-417)cGc>cAc	p.R139H	TEAD4_ENST00000359864.2_Missense_Mutation_p.R268H|TEAD4_ENST00000358409.2_Missense_Mutation_p.R225H	NM_201443.2	NP_958851.1	Q15561	TEAD4_HUMAN	TEA domain family member 4	268					gene expression (GO:0010467)|hippo signaling (GO:0035329)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			GTGGACATCCGCCAAATCTAT	0.527																																						ENST00000359864.2																			0				endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10						c.(802-804)cGc>cAc		TEA domain family member 4							142.0	144.0	143.0					12																	3131089		2203	4300	6503	SO:0001583	missense	7004				hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:3131089G>A	X94438	CCDS31729.1, CCDS31730.1, CCDS41737.1	12p13.3-p13.2	2008-05-14				ENSG00000197905			11717	protein-coding gene	gene with protein product		601714		TCF13L1		9889009, 8921372	Standard	NM_003213		Approved	TEF-3, TEFR-1, EFTR-2, RTEF-1	uc010sej.2	Q15561		ENST00000397122.2:c.416G>A	12.37:g.3131089G>A	ENSP00000380311:p.Arg139His					TEAD4_ENST00000397122.2_Missense_Mutation_p.R139H|TEAD4_ENST00000358409.2_Missense_Mutation_p.R225H	p.R268H	NM_003213.3	NP_003204.2	Q15561	TEAD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)		10	993	+	Ovarian(42;0.211)		268					H0Y308|Q6MZR9|Q8NEV5|Q92883|Q96BK2	Missense_Mutation	SNP	ENST00000397122.2	37	c.803G>A	CCDS41737.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.986426	0.35036	.	.	ENSG00000197905	ENST00000358409;ENST00000359864;ENST00000397122	T;T;T	0.35236	1.32;1.32;1.32	4.19	1.08	0.20341	.	0.423325	0.25068	N	0.033385	T	0.38878	0.1057	M	0.82517	2.595	0.58432	D	0.999995	B	0.11235	0.004	B	0.04013	0.001	T	0.39901	-0.9591	10	0.66056	D	0.02	-10.1873	9.3324	0.38030	0.2884:0.0:0.7116:0.0	.	268	Q15561	TEAD4_HUMAN	H	225;268;139	ENSP00000351184:R225H;ENSP00000352926:R268H;ENSP00000380311:R139H	ENSP00000351184:R225H	R	+	2	0	TEAD4	3001350	1.000000	0.71417	1.000000	0.80357	0.305000	0.27757	3.876000	0.56115	0.426000	0.26116	-0.136000	0.14681	CGC		0.527	TEAD4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398477.1	NM_003213		5	151	0	0	0	1	0	5	151				
OR6T1	219874	broad.mit.edu	37	11	123814297	123814297	+	Silent	SNP	G	G	A	rs371540555		TCGA-QR-A6H6-01A-11D-A35D-08	TCGA-QR-A6H6-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac18eca3-999a-48c2-9f96-76b69e4b8395	ef2fc228-103c-4c7e-b676-179029a08831	g.chr11:123814297G>A	ENST00000321252.2	-	1	283	c.249C>T	c.(247-249)gtC>gtT	p.V83V		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	83						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V83V(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TGAGGATGACGACAAGCATCT	0.507																																						ENST00000321252.2																			1	Substitution - coding silent(1)	p.V83V(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(247-249)gtC>gtT		olfactory receptor, family 6, subfamily T, member 1		G		2,4402	4.2+/-10.8	0,2,2200	123.0	103.0	110.0		249	-0.4	0.0	11		110	1,8597		0,1,4298	no	coding-synonymous	OR6T1	NM_001005187.1		0,3,6498	AA,AG,GG		0.0116,0.0454,0.0231		83/324	123814297	3,12999	2202	4299	6501	SO:0001819	synonymous_variant	219874				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123814297G>A	AB065759	CCDS31700.1	11q24.1	2012-08-09			ENSG00000181499	ENSG00000181499		"""GPCR / Class A : Olfactory receptors"""	14848	protein-coding gene	gene with protein product							Standard	NM_001005187		Approved		uc010sab.2	Q8NGN1	OTTHUMG00000165962	ENST00000321252.2:c.249C>T	11.37:g.123814297G>A							p.V83V	NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	283	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	83					Q6IFE7	Silent	SNP	ENST00000321252.2	37	c.249C>T	CCDS31700.1																																																																																				0.507	OR6T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387264.1	NM_001005187		4	75	0	0	0	1	0	4	75				
SCAF8	22828	broad.mit.edu	37	6	155154083	155154083	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A6H6-01A-11D-A35D-08	TCGA-QR-A6H6-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac18eca3-999a-48c2-9f96-76b69e4b8395	ef2fc228-103c-4c7e-b676-179029a08831	g.chr6:155154083C>T	ENST00000367178.3	+	20	3946	c.3370C>T	c.(3370-3372)Cgg>Tgg	p.R1124W	TIAM2_ENST00000461783.3_5'UTR|SCAF8_ENST00000417268.1_Missense_Mutation_p.R1124W|SCAF8_ENST00000367186.4_Missense_Mutation_p.R1190W	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	1124	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						AGGTAGATTTCGGTCTGGAAA	0.478																																						ENST00000367178.3																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						c.(3370-3372)Cgg>Tgg		SR-related CTD-associated factor 8							75.0	82.0	80.0					6																	155154083		2203	4300	6503	SO:0001583	missense	22828				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding	g.chr6:155154083C>T	AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"""RNA binding motif (RRM) containing"""	20959	protein-coding gene	gene with protein product			"""RNA binding motif protein 16"""	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.3370C>T	6.37:g.155154083C>T	ENSP00000356146:p.Arg1124Trp					SCAF8_ENST00000417268.1_Missense_Mutation_p.R1124W|TIAM2_ENST00000461783.3_5'UTR|SCAF8_ENST00000367186.4_Missense_Mutation_p.R1190W	p.R1124W	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN			20	3946	+			1124			Arg-rich.		B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Missense_Mutation	SNP	ENST00000367178.3	37	c.3370C>T	CCDS5247.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.109876	0.56398	.	.	ENSG00000213079;ENSG00000213079;ENSG00000213079;ENSG00000146426	ENST00000367178;ENST00000417268;ENST00000367186;ENST00000528928	T;T;T	0.47869	0.85;0.85;0.83	5.79	4.84	0.62591	.	0.852335	0.09913	U	0.739508	T	0.48390	0.1497	N	0.24115	0.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.64687	0.928;0.928;0.874	T	0.52193	-0.8608	10	0.66056	D	0.02	.	17.566	0.87920	0.132:0.868:0.0:0.0	.	1169;1190;1124	B7Z876;B7Z888;Q9UPN6	.;.;SCAF8_HUMAN	W	1124;1124;1190;85	ENSP00000356146:R1124W;ENSP00000413098:R1124W;ENSP00000356154:R1190W	ENSP00000356146:R1124W	R	+	1	2	TIAM2;SCAF8	155195775	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.233000	0.58651	2.726000	0.93360	0.655000	0.94253	CGG		0.478	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042798.1	NM_014892		23	39	0	0	0	1	0	23	39				
DIS3L	115752	broad.mit.edu	37	15	66607419	66607419	+	Missense_Mutation	SNP	G	G	A	rs200076422		TCGA-QR-A6H6-01A-11D-A35D-08	TCGA-QR-A6H6-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac18eca3-999a-48c2-9f96-76b69e4b8395	ef2fc228-103c-4c7e-b676-179029a08831	g.chr15:66607419G>A	ENST00000319212.4	+	7	910	c.860G>A	c.(859-861)cGc>cAc	p.R287H	DIS3L_ENST00000319194.5_Missense_Mutation_p.R204H|RP11-352G18.2_ENST00000565993.1_RNA|DIS3L_ENST00000441424.2_Missense_Mutation_p.R153H	NM_001143688.1	NP_001137160.1	Q8TF46	DI3L1_HUMAN	DIS3 like exosome 3'-5' exoribonuclease	287					RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)	cytoplasmic exosome (RNase complex) (GO:0000177)	3'-5'-exoribonuclease activity (GO:0000175)|enzyme binding (GO:0019899)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GCTCGAAACCGCTCAATTCAT	0.478																																						ENST00000319194.5																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(610-612)cGc>cAc		DIS3 mitotic control homolog (S. cerevisiae)-like							144.0	125.0	131.0					15																	66607419		2201	4299	6500	SO:0001583	missense	115752				rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding	g.chr15:66607419G>A		CCDS10214.1, CCDS45286.1	15q22.31	2014-03-05	2014-03-05		ENSG00000166938	ENSG00000166938			28698	protein-coding gene	gene with protein product		614183	"""DIS3 mitotic control homolog (S. cerevisiae)-like"""			20531386	Standard	NM_001143688		Approved	MGC4562, FLJ38088, KIAA1955, DIS3L1	uc010ujm.2	Q8TF46	OTTHUMG00000133181	ENST00000319212.4:c.860G>A	15.37:g.66607419G>A	ENSP00000321711:p.Arg287His					DIS3L_ENST00000441424.2_Missense_Mutation_p.R153H|RP11-352G18.2_ENST00000565993.1_RNA|DIS3L_ENST00000319212.4_Missense_Mutation_p.R287H	p.R204H	NM_133375.3	NP_588616.1	Q8TF46	DI3L1_HUMAN			7	872	+			287					Q8N1N8|Q8WTU9|Q96CM7	Missense_Mutation	SNP	ENST00000319212.4	37	c.611G>A	CCDS45286.1	.	.	.	.	.	.	.	.	.	.	G	36	5.664037	0.96745	.	.	ENSG00000166938	ENST00000319194;ENST00000441424;ENST00000319212	T;T;T	0.36699	1.24;1.24;1.24	5.34	5.34	0.76211	.	0.156269	0.56097	D	0.000038	T	0.72566	0.3476	H	0.95260	3.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	T	0.81061	-0.1103	10	0.66056	D	0.02	-15.751	18.3807	0.90449	0.0:0.0:1.0:0.0	.	287;287	Q8TF46;Q8TF46-3	DI3L1_HUMAN;.	H	204;153;287	ENSP00000321583:R204H;ENSP00000388980:R153H;ENSP00000321711:R287H	ENSP00000321583:R204H	R	+	2	0	DIS3L	64394473	1.000000	0.71417	0.993000	0.49108	0.963000	0.63663	9.386000	0.97228	2.655000	0.90218	0.561000	0.74099	CGC		0.478	DIS3L-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382792.2	NM_133375		4	100	0	0	0	1	0	4	100				
DNM1P47	100216544	broad.mit.edu	37	15	102303120	102303120	+	RNA	SNP	C	C	G	rs547715901	byFrequency	TCGA-QR-A6H6-01A-11D-A35D-08	TCGA-QR-A6H6-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac18eca3-999a-48c2-9f96-76b69e4b8395	ef2fc228-103c-4c7e-b676-179029a08831	g.chr15:102303120C>G	ENST00000561463.1	+	0	11166									DNM1 pseudogene 47																		CTTCTCAGAGCTGCTGTCCAA	0.592													.|||	3	0.000599042	0.0015	0.0014	5008	,	,		36190	0.0		0.0	False		,,,				2504	0.0					ENST00000561463.1																			0																																																			100216544							g.chr15:102303120C>G	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102303120C>G														0	11166	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.592	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		5	36	0	0	0	1	0	5	36				
COL21A1	81578	broad.mit.edu	37	6	56044743	56044743	+	Silent	SNP	G	G	A	rs182718262		TCGA-QR-A6H6-01A-11D-A35D-08	TCGA-QR-A6H6-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac18eca3-999a-48c2-9f96-76b69e4b8395	ef2fc228-103c-4c7e-b676-179029a08831	g.chr6:56044743G>A	ENST00000244728.5	-	3	670	c.273C>T	c.(271-273)ctC>ctT	p.L91L	COL21A1_ENST00000370819.1_Silent_p.L91L|COL21A1_ENST00000535941.1_Silent_p.L91L	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	91	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CATAGCTTCCGAGAGGAATCT	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		19698	0.0		0.001	False		,,,				2504	0.0					ENST00000244728.5																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41						c.(271-273)ctC>ctT		collagen, type XXI, alpha 1							63.0	61.0	61.0					6																	56044743		1894	4118	6012	SO:0001819	synonymous_variant	81578				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr6:56044743G>A	AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"""Collagens"""	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.273C>T	6.37:g.56044743G>A						COL21A1_ENST00000370819.1_Silent_p.L91L|COL21A1_ENST00000535941.1_Silent_p.L91L	p.L91L	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		3	670	-	Lung NSC(77;0.0483)		91			VWFA.		A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Silent	SNP	ENST00000244728.5	37	c.273C>T	CCDS55025.1																																																																																				0.453	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2			9	22	0	0	0	1	0	9	22				
WBSCR17	64409	broad.mit.edu	37	7	71142222	71142222	+	Silent	SNP	C	C	A			TCGA-QR-A6H6-01A-11D-A35D-08	TCGA-QR-A6H6-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac18eca3-999a-48c2-9f96-76b69e4b8395	ef2fc228-103c-4c7e-b676-179029a08831	g.chr7:71142222C>A	ENST00000333538.5	+	9	2065	c.1431C>A	c.(1429-1431)gtC>gtA	p.V477V	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	477	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CAAAAGACGTCTGCTTGGACC	0.542																																						ENST00000333538.5																			0				NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100						c.(1429-1431)gtC>gtA		Williams-Beuren syndrome chromosome region 17							234.0	232.0	232.0					7																	71142222		2203	4300	6503	SO:0001819	synonymous_variant	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:71142222C>A	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.1431C>A	7.37:g.71142222C>A						WBSCR17_ENST00000498380.2_3'UTR	p.V477V	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN			9	2065	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	477			Ricin B-type lectin.		Q8NFV9|Q9NTA8	Silent	SNP	ENST00000333538.5	37	c.1431C>A	CCDS5540.1																																																																																				0.542	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		5	262	1	0	2.0095e-06	1	2.08127e-06	5	262				
FKBP8	23770	broad.mit.edu	37	19	18648510	18648510	+	Silent	SNP	C	C	T	rs146804732	byFrequency	TCGA-QR-A6H6-01A-11D-A35D-08	TCGA-QR-A6H6-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac18eca3-999a-48c2-9f96-76b69e4b8395	ef2fc228-103c-4c7e-b676-179029a08831	g.chr19:18648510C>T	ENST00000596558.2	-	6	952	c.843G>A	c.(841-843)tcG>tcA	p.S281S	FKBP8_ENST00000222308.4_Silent_p.S281S|AC005387.2_ENST00000596596.1_RNA|FKBP8_ENST00000453489.2_Silent_p.S310S|FKBP8_ENST00000610101.1_Silent_p.S122S|FKBP8_ENST00000597960.3_Silent_p.S282S|FKBP8_ENST00000608443.1_Silent_p.S282S			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	281					apoptotic process (GO:0006915)|camera-type eye development (GO:0043010)|cell fate specification (GO:0001708)|chaperone-mediated protein folding (GO:0061077)|dorsal/ventral neural tube patterning (GO:0021904)|intracellular signal transduction (GO:0035556)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|positive regulation of BMP signaling pathway (GO:0030513)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of gene expression (GO:0010468)|smoothened signaling pathway (GO:0007224)|viral process (GO:0016032)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	FK506 binding (GO:0005528)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						GCTTCAGCTGCGAGGCCGCCA	0.617													C|||	3	0.000599042	0.0023	0.0	5008	,	,		18452	0.0		0.0	False		,,,				2504	0.0					ENST00000597960.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						c.(844-846)tcG>tcA		FK506 binding protein 8, 38kDa		C		4,4402	8.1+/-20.4	0,4,2199	83.0	65.0	71.0		846	-9.3	0.2	19	dbSNP_134	71	0,8600		0,0,4300	no	coding-synonymous	FKBP8	NM_012181.3		0,4,6499	TT,TC,CC		0.0,0.0908,0.0308		282/414	18648510	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	23770				apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding	g.chr19:18648510C>T	L37033	CCDS32961.1	19p12	2013-01-10	2002-08-29		ENSG00000105701	ENSG00000105701		"""Tetratricopeptide (TTC) repeat domain containing"""	3724	protein-coding gene	gene with protein product	"""FK506-binding protein 8 (38kD)"""	604840	"""FK506-binding protein 8 (38kD)"""			7543869	Standard	NM_012181		Approved	FKBP38, FKBPr38	uc002njj.1	Q14318		ENST00000596558.2:c.843G>A	19.37:g.18648510C>T						FKBP8_ENST00000222308.3_Silent_p.S282S|FKBP8_ENST00000544835.2_Silent_p.S122S|FKBP8_ENST00000453489.2_Silent_p.S310S|FKBP8_ENST00000596558.1_Silent_p.S281S	p.S282S			Q14318	FKBP8_HUMAN			6	966	-			281					C8C9T5|Q53GU3|Q7Z349|Q86YK6	Silent	SNP	ENST00000596558.2	37	c.846G>A																																																																																					0.617	FKBP8-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000466374.3	NM_012181		22	62	0	0	0	1	0	22	62				
IGHG3	3502	broad.mit.edu	37	14	106237582	106237582	+	RNA	SNP	C	C	T	rs2983776		TCGA-QR-A6H6-01A-11D-A35D-08	TCGA-QR-A6H6-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac18eca3-999a-48c2-9f96-76b69e4b8395	ef2fc228-103c-4c7e-b676-179029a08831	g.chr14:106237582C>T	ENST00000390551.2	-	0	160							P01860	IGHG3_HUMAN	immunoglobulin heavy constant gamma 3 (G3m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										GTAGGACAGCCGGGAAGGTGT	0.637																																						ENST00000390551.2																			0																				44.0	41.0	42.0					14																	106237582		1903	4068	5971			3502							g.chr14:106237582C>T	M12958		14q32.33	2012-10-02			ENSG00000211897	ENSG00000211897		"""Immunoglobulins / IGH locus"""	5527	other	immunoglobulin gene		147120				6808505	Standard	NG_001019		Approved			P01860	OTTHUMG00000152539		14.37:g.106237582C>T														0	160	-								A2NU35	RNA	SNP	ENST00000390551.2	37																																																																																						0.637	IGHG3-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326654.1	NG_001019		4	64	0	0	0	1	0	4	64				
POLR3B	55703	broad.mit.edu	37	12	106820975	106820975	+	Splice_Site	SNP	C	C	T	rs201079775		TCGA-QR-A6H6-01A-11D-A35D-08	TCGA-QR-A6H6-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac18eca3-999a-48c2-9f96-76b69e4b8395	ef2fc228-103c-4c7e-b676-179029a08831	g.chr12:106820975C>T	ENST00000228347.4	+	13	1324	c.1102C>T	c.(1102-1104)Ctt>Ttt	p.L368F	POLR3B_ENST00000549195.1_3'UTR|POLR3B_ENST00000539066.1_Splice_Site_p.L310F	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	368					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	p.L368F(4)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTTTTTTTAGCTTTTATCTCT	0.274																																						ENST00000228347.4																			4	Substitution - Missense(4)	p.L368F(4)	kidney(3)|lung(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						c.e13-1		polymerase (RNA) III (DNA directed) polypeptide B							10.0	11.0	10.0					12																	106820975		2176	4287	6463	SO:0001630	splice_region_variant	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106820975C>T	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.1102-1C>T	12.37:g.106820975C>T						POLR3B_ENST00000539066.1_Splice_Site_p.L310_splice|POLR3B_ENST00000549195.1_3'UTR	p.L368_splice	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN			13	1324	+			368					A8K6H0|B3KV73|F5H1E6|Q9NW59	Splice_Site	SNP	ENST00000228347.4	37	c.1101_splice	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929826	0.92389	.	.	ENSG00000013503	ENST00000228347;ENST00000551370;ENST00000539066;ENST00000549569;ENST00000549195	T;T;D	0.81996	-1.44;-1.44;-1.56	5.62	5.62	0.85841	RNA polymerase, beta subunit, protrusion (1);	0.000000	0.85682	D	0.000000	D	0.93818	0.8023	H	0.97682	4.055	0.80722	D	1	B	0.33807	0.426	P	0.49597	0.616	D	0.93705	0.7019	9	.	.	.	-18.9461	20.02	0.97489	0.0:1.0:0.0:0.0	.	368	Q9NW08	RPC2_HUMAN	F	368;368;310;126;31	ENSP00000228347:L368F;ENSP00000445721:L310F;ENSP00000448398:L126F	.	L	+	1	0	POLR3B	105345105	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.150000	0.77403	2.809000	0.96659	0.557000	0.71058	CTT		0.274	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082	Missense_Mutation	6	14	0	0	0	1	0	6	14				
STK11IP	114790	broad.mit.edu	37	2	220466101	220466101	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A6H6-01A-11D-A35D-08	TCGA-QR-A6H6-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac18eca3-999a-48c2-9f96-76b69e4b8395	ef2fc228-103c-4c7e-b676-179029a08831	g.chr2:220466101C>T	ENST00000456909.1	+	3	296	c.206C>T	c.(205-207)tCc>tTc	p.S69F	STK11IP_ENST00000295641.10_Missense_Mutation_p.S80F|STK11IP_ENST00000459692.1_3'UTR			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	80					protein localization (GO:0008104)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)	protein kinase binding (GO:0019901)			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTGCCGACTCCCCTGTTATT	0.567																																						ENST00000456909.1																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23						c.(205-207)tCc>tTc		serine/threonine kinase 11 interacting protein							62.0	65.0	64.0					2																	220466101		2088	4228	6316	SO:0001583	missense	114790				protein localization	cytoplasm	protein kinase binding	g.chr2:220466101C>T	AF450267	CCDS46521.1	2q35	2008-06-03			ENSG00000144589	ENSG00000144589			19184	protein-coding gene	gene with protein product	"""LKB1 interacting protein"""	607172				11741830	Standard	NM_052902		Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	Q8N1F8	OTTHUMG00000059239	ENST00000456909.1:c.206C>T	2.37:g.220466101C>T	ENSP00000389383:p.Ser69Phe					STK11IP_ENST00000295641.10_Missense_Mutation_p.S80F|STK11IP_ENST00000459692.1_3'UTR	p.S69F			Q8N1F8	S11IP_HUMAN		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	296	+		Renal(207;0.0183)	80					Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Missense_Mutation	SNP	ENST00000456909.1	37	c.206C>T		.	.	.	.	.	.	.	.	.	.	C	15.28	2.787082	0.49997	.	.	ENSG00000144589	ENST00000456909;ENST00000426736;ENST00000295641	T;T	0.06687	3.28;3.27	4.83	4.83	0.62350	.	0.142496	0.44688	D	0.000427	T	0.23410	0.0566	L	0.55743	1.74	0.51767	D	0.999936	D;D;D;D;D	0.76494	0.999;0.998;0.999;0.999;0.999	D;D;D;D;D	0.76071	0.98;0.923;0.974;0.987;0.981	T	0.00169	-1.1962	10	0.87932	D	0	-19.9789	13.4775	0.61316	0.0:0.843:0.157:0.0	.	80;80;69;80;80	B4DUE4;B4DII2;E7ERV2;Q8N1F8-2;Q8N1F8	.;.;.;.;S11IP_HUMAN	F	69;80;80	ENSP00000389383:S69F;ENSP00000295641:S80F	ENSP00000295641:S80F	S	+	2	0	STK11IP	220174345	1.000000	0.71417	0.937000	0.37676	0.120000	0.20174	5.275000	0.65575	2.511000	0.84671	0.650000	0.86243	TCC		0.567	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000131432.1	NM_052902		5	37	0	0	0	1	0	5	37				
SHC1	6464	broad.mit.edu	37	1	154940727	154940727	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A6H6-01A-11D-A35D-08	TCGA-QR-A6H6-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac18eca3-999a-48c2-9f96-76b69e4b8395	ef2fc228-103c-4c7e-b676-179029a08831	g.chr1:154940727C>T	ENST00000368445.5	-	5	971	c.757G>A	c.(757-759)Gcc>Acc	p.A253T	SHC1_ENST00000368449.4_Missense_Mutation_p.A24T|SHC1_ENST00000368453.4_Missense_Mutation_p.A143T|SHC1_ENST00000448116.2_Missense_Mutation_p.A253T|SHC1_ENST00000606391.1_Missense_Mutation_p.A54T|SHC1_ENST00000490667.1_5'Flank|SHC1_ENST00000368450.1_Missense_Mutation_p.A143T	NM_183001.4	NP_892113.4	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	253	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|Ras protein signal transduction (GO:0007265)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of growth (GO:0040008)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|Shc-EGFR complex (GO:0070435)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phospholipid binding (GO:0005543)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGGTGGTTGGCGATGATCTGA	0.567																																					NSCLC(4;32 234 1864 2492 3259 13747 17376)	ENST00000448116.2																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20						c.(757-759)Gcc>Acc		SHC (Src homology 2 domain containing) transforming protein 1							242.0	237.0	239.0					1																	154940727		2203	4300	6503	SO:0001583	missense	6464				activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr1:154940727C>T	U73377	CCDS1076.1, CCDS30881.1, CCDS44233.1, CCDS44234.1	1q21	2013-02-14	2002-01-14		ENSG00000160691	ENSG00000160691		"""SH2 domain containing"""	10840	protein-coding gene	gene with protein product		600560	"""SHC (Src homology 2 domain-containing) transforming protein 1"""	SHC		1623525	Standard	NM_003029		Approved	p66	uc001ffw.3	P29353	OTTHUMG00000037295	ENST00000368445.5:c.757G>A	1.37:g.154940727C>T	ENSP00000357430:p.Ala253Thr					SHC1_ENST00000368450.1_Missense_Mutation_p.A143T|SHC1_ENST00000368445.5_Missense_Mutation_p.A253T|SHC1_ENST00000368449.4_Missense_Mutation_p.A24T|SHC1_ENST00000606391.1_Missense_Mutation_p.A54T|SHC1_ENST00000368453.4_Missense_Mutation_p.A143T	p.A253T	NM_001130040.1	NP_001123512.1	P29353	SHC1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		5	977	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		253			PID.		B5BU19|D3DV78|O15290|Q5T180|Q5T183|Q5T184|Q5T185|Q5T186|Q8N4K5|Q96CL1	Missense_Mutation	SNP	ENST00000368445.5	37	c.757G>A	CCDS30881.1	.	.	.	.	.	.	.	.	.	.	C	35	5.539305	0.96474	.	.	ENSG00000160691	ENST00000368445;ENST00000448116;ENST00000368449;ENST00000368453;ENST00000368450;ENST00000368443;ENST00000444179	T;T;T;T;T;T	0.21191	2.02;2.02;2.02;2.02;2.02;2.02	4.97	4.97	0.65823	Phosphotyrosine interaction (PID/PI) (1);Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.122077	0.53938	D	0.000053	T	0.45796	0.1360	M	0.90650	3.135	0.80722	D	1	D;P;P	0.76494	0.999;0.875;0.897	P;P;P	0.62435	0.902;0.692;0.502	T	0.56559	-0.7959	10	0.59425	D	0.04	-21.1739	18.4191	0.90582	0.0:1.0:0.0:0.0	.	32;253;253	Q59HB0;P29353-6;P29353	.;.;SHC1_HUMAN	T	253;253;54;143;143;189;24	ENSP00000357430:A253T;ENSP00000401303:A253T;ENSP00000357434:A54T;ENSP00000357438:A143T;ENSP00000357435:A143T;ENSP00000398864:A24T	ENSP00000357428:A189T	A	-	1	0	SHC1	153207351	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.307000	0.78920	2.574000	0.86865	0.563000	0.77884	GCC		0.567	SHC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090781.2	NM_183001		5	279	0	0	0	1	0	5	279				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-QR-A6H6-01A-11D-A35D-08	TCGA-QR-A6H6-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac18eca3-999a-48c2-9f96-76b69e4b8395	ef2fc228-103c-4c7e-b676-179029a08831	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			158160							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		4	57	0	0	0	1	0	4	57				
CDKN2A	1029	broad.mit.edu	37	9	21970988	21970988	+	Missense_Mutation	SNP	G	G	A	rs34170727	byFrequency	TCGA-QR-A6H6-01A-11D-A35D-08	TCGA-QR-A6H6-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac18eca3-999a-48c2-9f96-76b69e4b8395	ef2fc228-103c-4c7e-b676-179029a08831	g.chr9:21970988G>A	ENST00000304494.5	-	2	640	c.370C>T	c.(370-372)Cgc>Tgc	p.R124C	CDKN2A_ENST00000578845.2_Missense_Mutation_p.R73C|CDKN2A_ENST00000494262.1_Missense_Mutation_p.R73C|CDKN2A_ENST00000579122.1_Missense_Mutation_p.R124C|CDKN2A_ENST00000497750.1_Missense_Mutation_p.R73C|CDKN2A_ENST00000446177.1_Missense_Mutation_p.R124C|CDKN2A_ENST00000530628.2_3'UTR|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Missense_Mutation_p.R73C|CDKN2A_ENST00000579755.1_3'UTR|CDKN2A_ENST00000498124.1_Missense_Mutation_p.R124C|CDKN2A_ENST00000361570.3_3'UTR|CDKN2A_ENST00000479692.2_Missense_Mutation_p.R73C	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	124			R -> C (in dbSNP:rs34170727).|R -> H (in an esophagus tumor).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(13)|p.R124fs*22(2)|p.0(1)|p.A118fs*10(1)|p.L121fs*21(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCGACATCGCGATGGCCCAGC	0.711		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			G|||	4	0.000798722	0.0	0.0	5008	,	,		6904	0.0		0.001	False		,,,				2504	0.0031					ENST00000304494.5		17																	1333	Whole gene deletion(1316)|Unknown(13)|Deletion - Frameshift(4)	p.0?(1315)|p.?(13)|p.R124fs*22(2)|p.0(1)|p.A118fs*10(1)|p.L121fs*21(1)	haematopoietic_and_lymphoid_tissue(278)|skin(168)|central_nervous_system(164)|lung(143)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(51)|oesophagus(49)|upper_aerodigestive_tract(48)|ovary(34)|kidney(30)|breast(30)|pancreas(29)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CM056562	CDKN2A	M	rs34170727	c.(370-372)Cgc>Tgc		cyclin-dependent kinase inhibitor 2A							27.0	29.0	29.0					9																	21970988		2202	4298	6500	SO:0001583	missense	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21970988G>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.370C>T	9.37:g.21970988G>A	ENSP00000307101:p.Arg124Cys	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000530628.2_3'UTR|CDKN2A_ENST00000497750.1_Missense_Mutation_p.R73C|CDKN2A_ENST00000494262.1_Missense_Mutation_p.R73C|CDKN2A_ENST00000579122.1_Missense_Mutation_p.R124C|CDKN2A_ENST00000498124.1_Missense_Mutation_p.R124C|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Missense_Mutation_p.R73C|CDKN2A_ENST00000361570.3_3'UTR|CDKN2A_ENST00000579755.1_3'UTR|CDKN2A_ENST00000446177.1_Missense_Mutation_p.R124C|CDKN2A_ENST00000578845.2_Missense_Mutation_p.R73C|CDKN2A_ENST00000479692.2_Missense_Mutation_p.R73C	p.R124C	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	640	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	124		R -> C (in dbSNP:rs34170727).|R -> H (in an esophagus tumor).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	c.370C>T	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	G	4.724	0.134560	0.09032	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	D;D	0.93859	-3.3;-3.3	5.93	1.0	0.19881	Ankyrin repeat-containing domain (4);	.	.	.	.	D	0.87493	0.6191	L	0.50847	1.595	0.39731	D	0.971609	B	0.16396	0.017	B	0.08055	0.003	T	0.77122	-0.2704	9	0.44086	T	0.13	-3.998	1.7222	0.02914	0.292:0.1279:0.4484:0.1317	rs34170727	124	P42771	CD2A1_HUMAN	C	124	ENSP00000307101:R124C;ENSP00000394932:R124C	ENSP00000307101:R124C	R	-	1	0	CDKN2A	21960988	0.005000	0.15991	0.030000	0.17652	0.027000	0.11550	-0.044000	0.12023	-0.074000	0.12820	-0.812000	0.03155	CGC		0.711	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		21	21	0	0	0	1	0	21	21				
GOLGA1	2800	broad.mit.edu	37	9	127674230	127674230	+	Missense_Mutation	SNP	G	G	C			TCGA-QR-A6H6-01A-11D-A35D-08	TCGA-QR-A6H6-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac18eca3-999a-48c2-9f96-76b69e4b8395	ef2fc228-103c-4c7e-b676-179029a08831	g.chr9:127674230G>C	ENST00000373555.4	-	11	1252	c.919C>G	c.(919-921)Cta>Gta	p.L307V		NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	307					protein targeting to Golgi (GO:0000042)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						TTCTGTTCTAGTCTCTTCTCC	0.453																																						ENST00000373555.4																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						c.(919-921)Cta>Gta		golgin A1							239.0	211.0	220.0					9																	127674230		2203	4300	6503	SO:0001583	missense	2800					Golgi cisterna membrane		g.chr9:127674230G>C	U51587	CCDS6860.1	9q34.11	2010-02-12	2010-02-12		ENSG00000136935	ENSG00000136935			4424	protein-coding gene	gene with protein product		602502	"""golgi autoantigen, golgin subfamily a, 1"""			9324025	Standard	NM_002077		Approved	golgin-97, MGC33154	uc004bpc.3	Q92805	OTTHUMG00000020665	ENST00000373555.4:c.919C>G	9.37:g.127674230G>C	ENSP00000362656:p.Leu307Val						p.L307V	NM_002077.3	NP_002068.1	Q92805	GOGA1_HUMAN			11	1252	-			307					Q5T164|Q8IYZ9	Missense_Mutation	SNP	ENST00000373555.4	37	c.919C>G	CCDS6860.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.463920	0.63513	.	.	ENSG00000136935	ENST00000373555	T	0.78595	-1.19	5.84	2.97	0.34412	.	0.000000	0.34435	U	0.003972	D	0.84151	0.5409	M	0.76002	2.32	0.53688	D	0.999975	D;D	0.71674	0.998;0.997	D;D	0.83275	0.996;0.991	T	0.81829	-0.0753	10	0.49607	T	0.09	-4.5618	5.8189	0.18516	0.2241:0.1441:0.6318:0.0	.	206;307	Q59HA1;Q92805	.;GOGA1_HUMAN	V	307	ENSP00000362656:L307V	ENSP00000362656:L307V	L	-	1	2	GOLGA1	126714051	0.998000	0.40836	1.000000	0.80357	0.986000	0.74619	0.736000	0.26130	0.806000	0.34183	0.643000	0.83706	CTA		0.453	GOLGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054049.1	NM_002077		7	66	0	0	0	1	0	7	66				
RPL32P3	132241	broad.mit.edu	37	3	129116038	129116038	+	RNA	SNP	C	C	T			TCGA-QR-A6H6-01A-11D-A35D-08	TCGA-QR-A6H6-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac18eca3-999a-48c2-9f96-76b69e4b8395	ef2fc228-103c-4c7e-b676-179029a08831	g.chr3:129116038C>T	ENST00000514355.1	-	0	412				SNORA7B_ENST00000384360.1_RNA					ribosomal protein L32 pseudogene 3											lung(1)	1						GAGGCTTTCCCGCCCAGGGAC	0.567																																						ENST00000514355.1																			0				lung(1)	1															146.0	143.0	144.0					3																	129116038		876	1991	2867			132241							g.chr3:129116038C>T	AK096589, AL117606		3q21.3	2014-03-20			ENSG00000251474	ENSG00000251474			27024	pseudogene	pseudogene						12477932	Standard	NR_003111		Approved		uc003ema.4		OTTHUMG00000159465		3.37:g.129116038C>T														0	412	-									RNA	SNP	ENST00000514355.1	37																																																																																						0.567	RPL32P3-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000355880.1			4	98	0	0	0	1	0	4	98				
CTC-260E6.6	0	broad.mit.edu	37	19	20369997	20369997	+	RNA	SNP	C	C	T			TCGA-QR-A6H6-01A-11D-A35D-08	TCGA-QR-A6H6-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac18eca3-999a-48c2-9f96-76b69e4b8395	ef2fc228-103c-4c7e-b676-179029a08831	g.chr19:20369997C>T	ENST00000593655.1	-	0	199																											ACGGTTGAAACGAGAACTTAA	0.413																																						ENST00000593655.1																			0																																																			0							g.chr19:20369997C>T																													19.37:g.20369997C>T														0	199	-									RNA	SNP	ENST00000593655.1	37																																																																																						0.413	CTC-260E6.6-006	KNOWN	basic	antisense	antisense	OTTHUMT00000462901.1			7	88	0	0	0	1	0	7	88				
IL18BP	10068	broad.mit.edu	37	11	71715362	71715362	+	IGR	DEL	G	G	-			TCGA-QR-A6H6-01A-11D-A35D-08	TCGA-QR-A6H6-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac18eca3-999a-48c2-9f96-76b69e4b8395	ef2fc228-103c-4c7e-b676-179029a08831	g.chr11:71715362delG	ENST00000393703.4	+	0	1788				NUMA1_ENST00000351960.6_Frame_Shift_Del_p.P875fs|NUMA1_ENST00000358965.6_Frame_Shift_Del_p.P1997fs|NUMA1_ENST00000393695.3_Frame_Shift_Del_p.P2011fs	NM_001039660.1	NP_001034749.1	O95998	I18BP_HUMAN	interleukin 18 binding protein						cellular response to hydrogen peroxide (GO:0070301)|cellular response to tumor necrosis factor (GO:0071356)|extracellular negative regulation of signal transduction (GO:1900116)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	interleukin-18 binding (GO:0042007)|receptor antagonist activity (GO:0048019)			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						CATGGGGCGTGGGAAACAGCT	0.542																																						ENST00000393695.3										T					RARA		APL		0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(6031-6033)cafs		nuclear mitotic apparatus protein 1							146.0	136.0	140.0					11																	71715362		2200	4293	6493	SO:0001628	intergenic_variant	4926				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71715362delG	AF110798	CCDS8206.2, CCDS44666.1	11q13	2013-01-11			ENSG00000137496	ENSG00000137496		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5987	protein-coding gene	gene with protein product	"""MC51L-53L-54L homolog gene product"""	604113				10023777	Standard	NM_001145055		Approved	IL18BPa	uc001orf.1	O95998	OTTHUMG00000133713		11.37:g.71715362delG						NUMA1_ENST00000358965.6_Frame_Shift_Del_p.P1997fs|NUMA1_ENST00000351960.6_Frame_Shift_Del_p.P875fs	p.P2011fs	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN			25	6363	-			2011					B3KUZ0|B7WPK4|O95993|O96027|Q9NZA9|Q9UBR7	Frame_Shift_Del	DEL	ENST00000393703.4	37	c.6032delC	CCDS8206.2																																																																																				0.542	IL18BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000258012.2	NM_173042		21	49						21	49	---	---	---	---
PREX1	57580	broad.mit.edu	37	20	47444201	47444201	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QR-A6H6-01A-11D-A35D-08	TCGA-QR-A6H6-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac18eca3-999a-48c2-9f96-76b69e4b8395	ef2fc228-103c-4c7e-b676-179029a08831	g.chr20:47444201delC	ENST00000371941.3	-	1	219	c.197delG	c.(196-198)ggcfs	p.G66fs	PREX1_ENST00000396220.1_Frame_Shift_Del_p.G66fs	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	66	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GCGCAAGGTGCCCACGTAGTC	0.716																																						ENST00000396220.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110						c.(196-198)gcfs		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1							12.0	15.0	14.0					20																	47444201		2190	4290	6480	SO:0001589	frameshift_variant	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47444201delC	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.197delG	20.37:g.47444201delC	ENSP00000361009:p.Gly66fs					PREX1_ENST00000371941.3_Frame_Shift_Del_p.G66fs	p.G66fs			Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		1	219	-			66			DH.		E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Frame_Shift_Del	DEL	ENST00000371941.3	37	c.197delG	CCDS13410.1																																																																																				0.716	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		2	4						2	4	---	---	---	---
