#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
ZNF702P	79986	broad.mit.edu	37	19	53472914	53472914	+	RNA	SNP	A	A	G			TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chr19:53472914A>G	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA																							TTTGATTTTCAATTAAAAACC	0.338																																						ENST00000600068.1																			0																																																			0							g.chr19:53472914A>G																													19.37:g.53472914A>G						ZNF702P_ENST00000270443.4_RNA								0	489	-									RNA	SNP	ENST00000600068.1	37																																																																																						0.338	CTD-2620I22.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000463881.1			4	20	0	0	0	1	0	4	20				
DNM1P47	100216544	broad.mit.edu	37	15	102293008	102293008	+	RNA	SNP	A	A	G	rs373885613		TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chr15:102293008A>G	ENST00000561463.1	+	0	1054									DNM1 pseudogene 47									p.K171E(1)									GCGTGGGAACAAGAAGACACT	0.582																																						ENST00000561463.1																			1	Substitution - Missense(1)	p.K171E(1)	kidney(1)																																																0							g.chr15:102293008A>G	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102293008A>G														0	1054	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.582	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	11	0	0	0	1	0	3	11				
ALMS1	7840	broad.mit.edu	37	2	73717486	73717486	+	Silent	SNP	T	T	A			TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chr2:73717486T>A	ENST00000264448.6	+	10	8508	c.8397T>A	c.(8395-8397)gtT>gtA	p.V2799V	AC096546.1_ENST00000408160.1_RNA|ALMS1_ENST00000409009.1_Silent_p.V2757V	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2799					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AATTACCTGTTGATTTTGAGC	0.363																																						ENST00000264448.6																			0				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(8395-8397)gtT>gtA		Alstrom syndrome 1							57.0	55.0	55.0					2																	73717486		1812	4074	5886	SO:0001819	synonymous_variant	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73717486T>A	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.8397T>A	2.37:g.73717486T>A						ALMS1_ENST00000409009.1_Silent_p.V2757V	p.V2799V	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			10	8508	+			2799					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP	ENST00000264448.6	37	c.8397T>A	CCDS42697.1																																																																																				0.363	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		9	36	0	0	0	1	0	9	36				
FBXL17	64839	broad.mit.edu	37	5	107700657	107700657	+	Missense_Mutation	SNP	G	G	T			TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chr5:107700657G>T	ENST00000542267.1	-	3	1562	c.1156C>A	c.(1156-1158)Cag>Aag	p.Q386K	FBXL17_ENST00000496714.1_5'UTR|FBXL17_ENST00000359660.5_5'UTR	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	386										endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		ATTATATTCTGACTTCTTGAT	0.303																																						ENST00000542267.1																			0				endometrium(1)|large_intestine(4)|lung(1)	6						c.(1156-1158)Cag>Aag		F-box and leucine-rich repeat protein 17							62.0	63.0	62.0					5																	107700657		2202	4298	6500	SO:0001583	missense	64839							g.chr5:107700657G>T	AL133602	CCDS54886.1	5q21.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000145743	ENSG00000145743		"""F-boxes / Leucine-rich repeats"""	13615	protein-coding gene	gene with protein product		609083	"""F-box only protein 13"""	FBXO13			Standard	NM_001163315		Approved	DKFZP434C1715, Fbx13, Fbl17	uc011cvc.2	Q9UF56	OTTHUMG00000159785	ENST00000542267.1:c.1156C>A	5.37:g.107700657G>T	ENSP00000437464:p.Gln386Lys					FBXL17_ENST00000496714.1_5'UTR|FBXL17_ENST00000359660.5_5'UTR	p.Q386K	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)	3	1562	-		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)	386					A1A4E3	Missense_Mutation	SNP	ENST00000542267.1	37	c.1156C>A	CCDS54886.1	.	.	.	.	.	.	.	.	.	.	G	19.98	3.926756	0.73327	.	.	ENSG00000145743	ENST00000542267	T	0.02236	4.38	5.48	5.48	0.80851	.	.	.	.	.	T	0.01940	0.0061	N	0.14661	0.345	0.80722	D	1	B	0.30824	0.296	B	0.26094	0.066	T	0.61559	-0.7038	9	0.09590	T	0.72	.	19.7187	0.96134	0.0:0.0:1.0:0.0	.	386	Q9UF56	FXL17_HUMAN	K	386	ENSP00000437464:Q386K	ENSP00000437464:Q386K	Q	-	1	0	FBXL17	107728556	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.378000	0.97191	2.731000	0.93534	0.585000	0.79938	CAG		0.303	FBXL17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				16	51	1	0	4.7546e-09	1	5.00485e-09	16	51				
SERINC3	10955	broad.mit.edu	37	20	43141574	43141574	+	Missense_Mutation	SNP	T	T	A			TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chr20:43141574T>A	ENST00000342374.4	-	3	420	c.263A>T	c.(262-264)gAt>gTt	p.D88V	SERINC3_ENST00000255175.1_Missense_Mutation_p.D88V|SERINC3_ENST00000541235.1_Missense_Mutation_p.D33V|SERINC3_ENST00000468234.1_5'Flank	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	88					phosphatidylserine metabolic process (GO:0006658)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			CACATCACAATCTTTATCTGC	0.363																																						ENST00000342374.4																			0				endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18						c.(262-264)gAt>gTt		serine incorporator 3							151.0	146.0	148.0					20																	43141574		2203	4300	6503	SO:0001583	missense	10955					integral to membrane|plasma membrane	protein binding	g.chr20:43141574T>A	U49188	CCDS13333.1	20q13.12	2008-05-14	2005-11-15	2005-11-15	ENSG00000132824	ENSG00000132824			11699	protein-coding gene	gene with protein product		607165	"""tumor differentially expressed 1"""	TDE1		10559794	Standard	NM_006811		Approved	DIFF33, TDE, SBBI99, TMS-1, AIGP1	uc002xme.3	Q13530	OTTHUMG00000033087	ENST00000342374.4:c.263A>T	20.37:g.43141574T>A	ENSP00000340243:p.Asp88Val					SERINC3_ENST00000255175.1_Missense_Mutation_p.D88V|SERINC3_ENST00000541235.1_Missense_Mutation_p.D33V	p.D88V	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)		3	420	-		Myeloproliferative disorder(115;0.0122)	88					B4DUE9|O43717|Q9BR33	Missense_Mutation	SNP	ENST00000342374.4	37	c.263A>T	CCDS13333.1	.	.	.	.	.	.	.	.	.	.	T	11.46	1.646502	0.29246	.	.	ENSG00000132824	ENST00000255175;ENST00000342374;ENST00000538937;ENST00000541235	T;T;T	0.14893	2.47;2.47;2.47	4.87	-0.796	0.10912	.	0.703249	0.14602	N	0.309588	T	0.16938	0.0407	M	0.80847	2.515	0.51012	D	0.999909	B;B	0.30727	0.017;0.292	B;B	0.29267	0.026;0.1	T	0.10870	-1.0611	10	0.54805	T	0.06	.	1.9647	0.03393	0.1228:0.2769:0.126:0.4743	.	88;88	Q53GK8;Q13530	.;SERC3_HUMAN	V	88;88;55;33	ENSP00000255175:D88V;ENSP00000340243:D88V;ENSP00000440966:D33V	ENSP00000255175:D88V	D	-	2	0	SERINC3	42574988	1.000000	0.71417	0.004000	0.12327	0.415000	0.31203	2.111000	0.41883	0.034000	0.15491	0.460000	0.39030	GAT		0.363	SERINC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080544.3	NM_006811		4	53	0	0	0	1	0	4	53				
ASB4	51666	broad.mit.edu	37	7	95167003	95167003	+	Missense_Mutation	SNP	C	C	T	rs267601648		TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chr7:95167003C>T	ENST00000325885.5	+	5	1284	c.1213C>T	c.(1213-1215)Cct>Tct	p.P405S		NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	405	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|positive regulation of vasculogenesis (GO:2001214)|protein autoubiquitination (GO:0051865)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)	p.P405S(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			TAGAGCAATTCCTTTGCTTTC	0.413																																						ENST00000325885.5																			1	Substitution - Missense(1)	p.P405S(1)	lung(1)	central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20						c.(1213-1215)Cct>Tct		ankyrin repeat and SOCS box containing 4							185.0	170.0	175.0					7																	95167003		2203	4300	6503	SO:0001583	missense	51666				intracellular signal transduction			g.chr7:95167003C>T	AF156779	CCDS5641.1, CCDS5642.1	7q21-q22	2013-01-10	2011-01-25		ENSG00000005981	ENSG00000005981		"""Ankyrin repeat domain containing"""	16009	protein-coding gene	gene with protein product		605761	"""ankyrin repeat and SOCS box-containing 4"""				Standard	NM_145872		Approved	ASB-4	uc011kij.2	Q9Y574	OTTHUMG00000153960	ENST00000325885.5:c.1213C>T	7.37:g.95167003C>T	ENSP00000321388:p.Pro405Ser						p.P405S	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		5	1284	+	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		405			SOCS box.		A4D1H6|O14586|Q14D68|Q8TBT2	Missense_Mutation	SNP	ENST00000325885.5	37	c.1213C>T	CCDS5641.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.361286	0.41801	.	.	ENSG00000005981	ENST00000325885	T	0.42131	0.98	4.96	4.96	0.65561	SOCS protein, C-terminal (3);	0.190371	0.45867	D	0.000331	T	0.50752	0.1634	N	0.21097	0.63	0.80722	D	1	D	0.65815	0.995	D	0.64506	0.926	T	0.54944	-0.8217	10	0.56958	D	0.05	-43.4295	18.6112	0.91285	0.0:1.0:0.0:0.0	.	405	Q9Y574	ASB4_HUMAN	S	405	ENSP00000321388:P405S	ENSP00000321388:P405S	P	+	1	0	ASB4	95004939	0.997000	0.39634	1.000000	0.80357	0.381000	0.30169	3.812000	0.55628	2.471000	0.83476	0.591000	0.81541	CCT		0.413	ASB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333225.2	NM_016116		10	73	0	0	0	1	0	10	73				
PCDHGA3	56112	broad.mit.edu	37	5	140723674	140723674	+	Missense_Mutation	SNP	A	A	T			TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chr5:140723674A>T	ENST00000253812.6	+	1	74	c.74A>T	c.(73-75)gAa>gTa	p.E25V	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	25					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCTGTGCGAAACAGGATCC	0.572											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000253812.6																			0				breast(1)	1						c.(73-75)gAa>gTa									121.0	133.0	129.0					5																	140723674		2087	4254	6341	SO:0001583	missense	0							g.chr5:140723674A>T	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.74A>T	5.37:g.140723674A>T	ENSP00000253812:p.Glu25Val		OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1658	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.E25V	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	74	+								Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	37	c.74A>T	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	3.656	-0.070619	0.07228	.	.	ENSG00000254245	ENST00000253812	T	0.50277	0.75	5.54	4.36	0.52297	Cadherin (1);	0.987069	0.08179	U	0.985774	T	0.50171	0.1600	M	0.62266	1.93	0.09310	N	1	B;B	0.30455	0.156;0.28	B;B	0.32805	0.153;0.117	T	0.43605	-0.9381	10	0.42905	T	0.14	.	12.423	0.55529	0.8544:0.1456:0.0:0.0	.	25;25	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	V	25	ENSP00000253812:E25V	ENSP00000253812:E25V	E	+	2	0	PCDHGA3	140703858	0.014000	0.17966	0.001000	0.08648	0.070000	0.16714	0.153000	0.16323	1.011000	0.39340	0.533000	0.62120	GAA		0.572	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		26	121	0	0	0	1	0	26	121				
SOS1	6654	broad.mit.edu	37	2	39262596	39262596	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chr2:39262596G>A	ENST00000426016.1	-	8	996	c.910C>T	c.(910-912)Cga>Tga	p.R304*	SOS1_ENST00000428721.2_Nonsense_Mutation_p.R247*|SOS1_ENST00000402219.2_Nonsense_Mutation_p.R304*|SOS1_ENST00000395038.2_Nonsense_Mutation_p.R304*			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	304	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				AAACCAGGTCGCAAAATATCT	0.338									Noonan syndrome																													ENST00000426016.1																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75						c.(910-912)Cga>Tga		son of sevenless homolog 1 (Drosophila)							72.0	75.0	74.0					2																	39262596		2203	4300	6503	SO:0001587	stop_gained	6654	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr2:39262596G>A	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.910C>T	2.37:g.39262596G>A	ENSP00000387784:p.Arg304*					SOS1_ENST00000428721.2_Nonsense_Mutation_p.R247*|SOS1_ENST00000402219.2_Nonsense_Mutation_p.R304*|SOS1_ENST00000395038.2_Nonsense_Mutation_p.R304*	p.R304*			Q07889	SOS1_HUMAN			8	996	-		all_hematologic(82;0.21)	304			DH.		A8K2G3|B4DXG2	Nonsense_Mutation	SNP	ENST00000426016.1	37	c.910C>T	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	G	37	6.010878	0.97200	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038;ENST00000263879;ENST00000428721	.	.	.	5.55	5.55	0.83447	.	0.065812	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	19.5053	0.95113	0.0:0.0:1.0:0.0	.	.	.	.	X	304;304;36;304;304;247	.	ENSP00000263879:R304X	R	-	1	2	SOS1	39116100	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.982000	0.76173	2.613000	0.88420	0.650000	0.86243	CGA		0.338	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		4	59	0	0	0	1	0	4	59				
ANKRD28	23243	broad.mit.edu	37	3	15749534	15749534	+	Missense_Mutation	SNP	G	G	C			TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chr3:15749534G>C	ENST00000399451.2	-	14	1721	c.1354C>G	c.(1354-1356)Cag>Gag	p.Q452E	ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Missense_Mutation_p.Q485E	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	452						nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						AACAGGCACTGGTAATTGCAG	0.458																																						ENST00000399451.2																			0				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						c.(1354-1356)Cag>Gag		ankyrin repeat domain 28							87.0	87.0	87.0					3																	15749534		2051	4199	6250	SO:0001583	missense	23243					nucleoplasm	protein binding	g.chr3:15749534G>C	AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	29024	protein-coding gene	gene with protein product	"""phosphatase interactor targeting K protein"", ""protein phosphatase 6 ankyrin repeat subunit A"", ""protein phosphatase 1, regulatory subunit 65"""	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.1354C>G	3.37:g.15749534G>C	ENSP00000382379:p.Gln452Glu					ANKRD28_ENST00000383777.1_Missense_Mutation_p.Q485E|ANKRD28_ENST00000497037.1_5'UTR	p.Q452E	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN			14	1721	-			452					B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Missense_Mutation	SNP	ENST00000399451.2	37	c.1354C>G	CCDS46769.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.037253	0.93630	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	T;T;T	0.57273	0.41;0.41;0.41	5.83	5.83	0.93111	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.35682	0.0940	N	0.00859	-1.14	0.80722	D	1	D;P;P	0.54964	0.969;0.935;0.863	P;P;P	0.52031	0.688;0.476;0.61	T	0.53443	-0.8438	10	0.19590	T	0.45	.	20.1338	0.98010	0.0:0.0:1.0:0.0	.	485;482;452	O15084-1;O15084-4;O15084	.;.;ANR28_HUMAN	E	452;485;452	ENSP00000382379:Q452E;ENSP00000373287:Q485E;ENSP00000397341:Q452E	ENSP00000373287:Q485E	Q	-	1	0	ANKRD28	15724538	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.770000	0.95276	0.655000	0.94253	CAG		0.458	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339758.1	NM_015199		4	8	0	0	0	1	0	4	8				
SASH1	23328	broad.mit.edu	37	6	148865285	148865285	+	Silent	SNP	A	A	T			TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chr6:148865285A>T	ENST00000367467.3	+	18	3154	c.2679A>T	c.(2677-2679)ctA>ctT	p.L893L		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	893					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		ATGCATTGCTACTGACCCAAA	0.552																																						ENST00000367467.3																			0				breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(2677-2679)ctA>ctT		SAM and SH3 domain containing 1							125.0	139.0	134.0					6																	148865285		2203	4300	6503	SO:0001819	synonymous_variant	23328						protein binding	g.chr6:148865285A>T	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.2679A>T	6.37:g.148865285A>T							p.L893L	NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	18	3154	+		Ovarian(120;0.0169)	893					Q5TGN5|Q8TAI0|Q9H7R7	Silent	SNP	ENST00000367467.3	37	c.2679A>T	CCDS5212.1																																																																																				0.552	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		32	119	0	0	0	1	0	32	119				
CHIA	27159	broad.mit.edu	37	1	111862949	111862949	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chr1:111862949C>T	ENST00000369740.1	+	12	1395	c.1292C>T	c.(1291-1293)gCt>gTt	p.A431V	CHIA_ENST00000430615.1_Missense_Mutation_p.A323V|CHIA_ENST00000353665.6_Missense_Mutation_p.A270V|CHIA_ENST00000343320.6_Missense_Mutation_p.A431V|RP5-1125M8.2_ENST00000426321.1_RNA|CHIA_ENST00000451398.2_Missense_Mutation_p.A270V|CHIA_ENST00000483391.1_Missense_Mutation_p.A270V	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	431	Chitin-binding type-2. {ECO:0000255|PROSITE-ProRule:PRU00144}.				apoptotic process (GO:0006915)|cell wall chitin metabolic process (GO:0006037)|chitin catabolic process (GO:0006032)|chitin metabolic process (GO:0006030)|digestion (GO:0007586)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|positive regulation of chemokine secretion (GO:0090197)|production of molecular mediator involved in inflammatory response (GO:0002532)|response to fungus (GO:0009620)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|chitinase activity (GO:0004568)|kinase binding (GO:0019900)|lysozyme activity (GO:0003796)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		GGATTCTGTGCTGTCAGAGCC	0.602																																						ENST00000369740.1																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23						c.(1291-1293)gCt>gTt		chitinase, acidic							68.0	62.0	64.0					1																	111862949		2203	4300	6503	SO:0001583	missense	27159				apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding	g.chr1:111862949C>T	AF290004	CCDS832.1, CCDS41368.1, CCDS58017.1	1p13.2	2008-05-14			ENSG00000134216	ENSG00000134216			17432	protein-coding gene	gene with protein product		606080				11085997	Standard	NM_021797		Approved	AMCase, TSA1902, CHIT2	uc001eas.4	Q9BZP6	OTTHUMG00000011165	ENST00000369740.1:c.1292C>T	1.37:g.111862949C>T	ENSP00000358755:p.Ala431Val					CHIA_ENST00000353665.6_Missense_Mutation_p.A270V|CHIA_ENST00000343320.6_Missense_Mutation_p.A431V|CHIA_ENST00000483391.1_Missense_Mutation_p.A270V|CHIA_ENST00000451398.2_Missense_Mutation_p.A270V|CHIA_ENST00000430615.1_Missense_Mutation_p.A323V|RP5-1125M8.2_ENST00000426321.1_RNA	p.A431V	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)	12	1395	+		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)	431			Chitin-binding type-2.		Q32W79|Q32W80|Q3B866|Q5U5Z5|Q5VUV4|Q86UD8|Q9ULY3|Q9ULY4	Missense_Mutation	SNP	ENST00000369740.1	37	c.1292C>T	CCDS41368.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.123804	0.56613	.	.	ENSG00000134216	ENST00000422815;ENST00000483391;ENST00000369740;ENST00000343320;ENST00000451398;ENST00000353665;ENST00000489524;ENST00000430615	T;T;T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47;3.58;1.47	4.77	3.84	0.44239	Chitin binding domain (5);	0.000000	0.64402	U	0.000011	T	0.18676	0.0448	M	0.65320	2	0.40733	D	0.982761	B	0.30763	0.294	B	0.35770	0.21	T	0.03875	-1.0996	10	0.37606	T	0.19	-3.9267	10.1935	0.43041	0.0:0.9005:0.0:0.0995	.	431	Q9BZP6	CHIA_HUMAN	V	375;270;431;431;270;270;270;323	ENSP00000387671:A375V;ENSP00000436946:A270V;ENSP00000358755:A431V;ENSP00000341828:A431V;ENSP00000390476:A270V;ENSP00000338970:A270V;ENSP00000433309:A270V;ENSP00000391132:A323V	ENSP00000341828:A431V	A	+	2	0	CHIA	111664472	0.763000	0.28462	0.874000	0.34290	0.991000	0.79684	1.402000	0.34600	1.331000	0.45412	0.655000	0.94253	GCT		0.602	CHIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030710.1			7	29	0	0	0	1	0	7	29				
LCE1D	353134	broad.mit.edu	37	1	152770577	152770577	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chr1:152770577G>A	ENST00000326233.6	+	2	350	c.307G>A	c.(307-309)Ggt>Agt	p.G103S		NM_178352.2	NP_848129.1	Q5T752	LCE1D_HUMAN	late cornified envelope 1D	103	Cys-rich.				cellular response to calcium ion (GO:0071277)|cognition (GO:0050890)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(1)	1	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGCTGCTGCGGTGGGGGCAG	0.632																																						ENST00000326233.6																			0				large_intestine(1)	1						c.(307-309)Ggt>Agt		late cornified envelope 1D							44.0	40.0	41.0					1																	152770577		2015	3698	5713	SO:0001583	missense	353134				cellular response to calcium ion|keratinization	cornified envelope|perinuclear region of cytoplasm		g.chr1:152770577G>A		CCDS1025.1	1q21.3	2008-02-05			ENSG00000172155	ENSG00000172155		"""Late cornified envelopes"""	29465	protein-coding gene	gene with protein product		612606				11698679	Standard	NM_178352		Approved	LEP4	uc009wnp.3	Q5T752	OTTHUMG00000012444	ENST00000326233.6:c.307G>A	1.37:g.152770577G>A	ENSP00000316737:p.Gly103Ser						p.G103S	NM_178352.2	NP_848129.1	Q5T752	LCE1D_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	350	+	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		103			Cys-rich.			Missense_Mutation	SNP	ENST00000326233.6	37	c.307G>A	CCDS1025.1	.	.	.	.	.	.	.	.	.	.	G	6.822	0.520796	0.13005	.	.	ENSG00000172155	ENST00000326233	T	0.03524	3.9	4.69	3.77	0.43336	.	.	.	.	.	T	0.02119	0.0066	L	0.28274	0.84	0.22081	N	0.999371	D	0.60160	0.987	P	0.51101	0.659	T	0.46582	-0.9181	9	0.87932	D	0	.	9.1424	0.36912	0.1039:0.0:0.8961:0.0	.	103	Q5T752	LCE1D_HUMAN	S	103	ENSP00000316737:G103S	ENSP00000316737:G103S	G	+	1	0	LCE1D	151037201	0.956000	0.32656	0.972000	0.41901	0.069000	0.16628	4.215000	0.58534	1.094000	0.41399	-0.266000	0.10368	GGT		0.632	LCE1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034657.2	NM_178352		7	12	0	0	0	1	0	7	12				
ABCB8	11194	broad.mit.edu	37	7	150738258	150738258	+	Missense_Mutation	SNP	G	G	A	rs201851187		TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chr7:150738258G>A	ENST00000297504.6	+	14	1673	c.1607G>A	c.(1606-1608)cGg>cAg	p.R536Q	ABCB8_ENST00000356058.4_3'UTR|ABCB8_ENST00000498578.1_Missense_Mutation_p.R519Q|ABCB8_ENST00000358849.4_Missense_Mutation_p.R519Q|ABCB8_ENST00000542328.1_Missense_Mutation_p.R431Q			Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	536	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Doxorubicin(DB00997)	CTGGATGGGCGGGACCTGCGC	0.677																																						ENST00000358849.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(1555-1557)cGg>cAg		ATP-binding cassette, sub-family B (MDR/TAP), member 8							60.0	57.0	58.0					7																	150738258		2203	4300	6503	SO:0001583	missense	11194					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr7:150738258G>A	AF047690	CCDS5913.1, CCDS64798.1, CCDS64799.1, CCDS64800.1	7q36.1	2012-05-16			ENSG00000197150	ENSG00000197150		"""ATP binding cassette transporters / subfamily B"""	49	protein-coding gene	gene with protein product	"""mitochondrial ABC protein"""	605464				8894702	Standard	NM_001282291		Approved	EST328128, M-ABC1, MABC1	uc003wik.4	Q9NUT2	OTTHUMG00000158686	ENST00000297504.6:c.1607G>A	7.37:g.150738258G>A	ENSP00000297504:p.Arg536Gln					ABCB8_ENST00000297504.6_Missense_Mutation_p.R536Q|ABCB8_ENST00000542328.1_Missense_Mutation_p.R431Q|ABCB8_ENST00000498578.1_Missense_Mutation_p.R519Q|ABCB8_ENST00000356058.4_3'UTR	p.R519Q	NM_007188.3	NP_009119.2	Q9NUT2	ABCB8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	13	1649	+			536			ABC transporter.		A5D8W3|B2RBL8|B3KND2|B4DG02|G3XAP3|O95787|Q53GM0	Missense_Mutation	SNP	ENST00000297504.6	37	c.1556G>A		.	.	.	.	.	.	.	.	.	.	G	10.98	1.504496	0.26949	.	.	ENSG00000197150	ENST00000358849;ENST00000360651;ENST00000297504;ENST00000542328;ENST00000498578	D;D;D;D	0.93712	-3.27;-3.27;-3.27;-3.27	4.45	-4.6	0.03390	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.876821	0.09826	N	0.750788	T	0.79851	0.4517	N	0.03294	-0.36	0.20307	N	0.999913	B;B;B;B	0.16166	0.016;0.002;0.002;0.001	B;B;B;B	0.13407	0.009;0.006;0.006;0.003	T	0.67169	-0.5738	10	0.29301	T	0.29	-24.7196	7.5956	0.28046	0.6382:0.0:0.2488:0.113	.	431;519;536;519	G3XAP3;A5D8W3;Q9NUT2;Q9NUT2-2	.;.;ABCB8_HUMAN;.	Q	519;502;536;431;519	ENSP00000351717:R519Q;ENSP00000297504:R536Q;ENSP00000438776:R431Q;ENSP00000418271:R519Q	ENSP00000297504:R536Q	R	+	2	0	ABCB8	150369191	0.000000	0.05858	0.099000	0.21106	0.805000	0.45488	0.396000	0.20867	-0.861000	0.04094	-0.672000	0.03802	CGG		0.677	ABCB8-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351733.2	NM_007188		3	38	0	0	0	1	0	3	38				
NDUFA12	55967	broad.mit.edu	37	12	95396517	95396517	+	Missense_Mutation	SNP	A	A	G			TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chr12:95396517A>G	ENST00000327772.2	-	2	256	c.167T>C	c.(166-168)tTt>tCt	p.F56S	NDUFA12_ENST00000547157.1_Intron|NDUFA12_ENST00000547986.1_Missense_Mutation_p.F56S	NM_018838.4	NP_061326.1	Q9UI09	NDUAC_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12	56					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|respiratory gaseous exchange (GO:0007585)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(1)|large_intestine(2)|lung(3)	6						GCACTCACCAAAAAATTGCTT	0.338																																						ENST00000327772.2																			0				endometrium(1)|large_intestine(2)|lung(3)	6						c.(166-168)tTt>tCt		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12	NADH(DB00157)						147.0	136.0	140.0					12																	95396517		2202	4300	6502	SO:0001583	missense	55967				respiratory electron transport chain|respiratory gaseous exchange|response to oxidative stress|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity	g.chr12:95396517A>G	BC005936	CCDS9050.1, CCDS58263.1	12q22	2011-07-04			ENSG00000184752	ENSG00000184752		"""Mitochondrial respiratory chain complex / Complex I"""	23987	protein-coding gene	gene with protein product	"""complex I B17.2 subunit"""	614530				10830904, 9827566	Standard	NM_018838		Approved	DAP13, B17.2	uc001tdl.4	Q9UI09		ENST00000327772.2:c.167T>C	12.37:g.95396517A>G	ENSP00000330737:p.Phe56Ser					NDUFA12_ENST00000547157.1_Intron|NDUFA12_ENST00000547986.1_Missense_Mutation_p.F56S	p.F56S	NM_018838.4	NP_061326.1	Q9UI09	NDUAC_HUMAN			2	256	-			56					F8VQS7|Q53XX0|Q9BRV6	Missense_Mutation	SNP	ENST00000327772.2	37	c.167T>C	CCDS9050.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.656119	0.88056	.	.	ENSG00000184752	ENST00000327772;ENST00000547986	T	0.39787	1.06	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.41811	0.1175	L	0.35723	1.085	0.80722	D	1	P	0.37548	0.599	P	0.45167	0.472	T	0.19353	-1.0308	10	0.27082	T	0.32	-21.1789	14.5089	0.67772	1.0:0.0:0.0:0.0	.	56	Q9UI09	NDUAC_HUMAN	S	56	ENSP00000330737:F56S	ENSP00000330737:F56S	F	-	2	0	NDUFA12	93920648	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.781000	0.85668	2.078000	0.62432	0.459000	0.35465	TTT		0.338	NDUFA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407245.2	NM_018838		11	36	0	0	0	1	0	11	36				
MYO10	4651	broad.mit.edu	37	5	16675127	16675127	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chr5:16675127C>T	ENST00000513610.1	-	35	5253	c.4799G>A	c.(4798-4800)cGa>cAa	p.R1600Q	MYO10_ENST00000515803.1_Missense_Mutation_p.R939Q|MYO10_ENST00000274203.9_Missense_Mutation_p.R957Q|MYO10_ENST00000427430.2_Missense_Mutation_p.R957Q|MYO10_ENST00000505695.1_Missense_Mutation_p.R939Q	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1600	MyTH4. {ECO:0000255|PROSITE- ProRule:PRU00359}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CCGCAGAGGTCGCAGGTCATG	0.542																																						ENST00000513610.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						c.(4798-4800)cGa>cAa		myosin X							83.0	81.0	81.0					5																	16675127		2050	4198	6248	SO:0001583	missense	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16675127C>T	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.4799G>A	5.37:g.16675127C>T	ENSP00000421280:p.Arg1600Gln					MYO10_ENST00000427430.2_Missense_Mutation_p.R957Q|MYO10_ENST00000505695.1_Missense_Mutation_p.R939Q|MYO10_ENST00000515803.1_Missense_Mutation_p.R939Q|MYO10_ENST00000274203.9_Missense_Mutation_p.R957Q	p.R1600Q	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN			35	5253	-			1600			MyTH4.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	c.4799G>A	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.671472	0.67814	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	D;D;D;D;D	0.91792	-2.91;-2.91;-2.91;-2.91;-2.91	5.91	5.91	0.95273	MyTH4 domain (3);	.	.	.	.	D	0.94208	0.8141	L	0.45698	1.435	0.53688	D	0.99997	D;D;D	0.76494	0.967;0.996;0.999	P;P;D	0.64506	0.555;0.878;0.926	D	0.91792	0.5444	9	0.25751	T	0.34	.	20.2983	0.98569	0.0:1.0:0.0:0.0	.	479;1240;1600	B4DIJ5;Q69YP8;Q9HD67	.;.;MYO10_HUMAN	Q	1600;939;957;939;957	ENSP00000421280:R1600Q;ENSP00000425051:R939Q;ENSP00000274203:R957Q;ENSP00000421170:R939Q;ENSP00000391106:R957Q	ENSP00000274203:R957Q	R	-	2	0	MYO10	16728127	1.000000	0.71417	0.949000	0.38748	0.544000	0.35116	4.739000	0.62080	2.802000	0.96397	0.655000	0.94253	CGA		0.542	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		3	36	0	0	0	1	0	3	36				
SMARCA4	6597	broad.mit.edu	37	19	11144059	11144059	+	Missense_Mutation	SNP	A	A	C			TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chr19:11144059A>C	ENST00000429416.3	+	27	3921	c.3640A>C	c.(3640-3642)Atc>Ctc	p.I1214L	SMARCA4_ENST00000541122.2_Missense_Mutation_p.I1214L|SMARCA4_ENST00000450717.3_Missense_Mutation_p.I1214L|SMARCA4_ENST00000589677.1_Missense_Mutation_p.I1214L|SMARCA4_ENST00000344626.4_Missense_Mutation_p.I1214L|SMARCA4_ENST00000590574.1_Missense_Mutation_p.I1214L|SMARCA4_ENST00000444061.3_Missense_Mutation_p.I1214L|SMARCA4_ENST00000413806.3_Missense_Mutation_p.I1214L|SMARCA4_ENST00000358026.2_Missense_Mutation_p.I1214L	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1214	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GGAGGAGAAGATCCTAGCTGC	0.637			"""F, N, Mis"""		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"""F, N, Mis"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(3640-3642)Atc>Ctc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							115.0	112.0	113.0					19																	11144059		2203	4300	6503	SO:0001583	missense	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11144059A>C	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3640A>C	19.37:g.11144059A>C	ENSP00000395654:p.Ile1214Leu					SMARCA4_ENST00000444061.3_Missense_Mutation_p.I1214L|SMARCA4_ENST00000590574.1_Missense_Mutation_p.I1214L|SMARCA4_ENST00000413806.3_Missense_Mutation_p.I1214L|SMARCA4_ENST00000429416.3_Missense_Mutation_p.I1214L|SMARCA4_ENST00000541122.2_Missense_Mutation_p.I1214L|SMARCA4_ENST00000344626.4_Missense_Mutation_p.I1214L|SMARCA4_ENST00000589677.1_Missense_Mutation_p.I1214L|SMARCA4_ENST00000450717.3_Missense_Mutation_p.I1214L	p.I1214L	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			26	3924	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1214			Helicase C-terminal.		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.3640A>C	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.440717	0.83993	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	T;T;T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1	4.74	4.74	0.60224	Helicase, C-terminal (1);	0.061993	0.64402	N	0.000005	D	0.86414	0.5927	M	0.81239	2.535	0.53005	D	0.999961	P;P;P;B;D;D;B	0.67145	0.866;0.866;0.947;0.07;0.989;0.996;0.002	P;P;P;B;P;P;B	0.62014	0.688;0.688;0.78;0.156;0.896;0.897;0.021	D	0.88272	0.2930	10	0.66056	D	0.02	-22.1321	13.3948	0.60846	1.0:0.0:0.0:0.0	.	1214;1214;1214;1214;1214;434;1214	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	L	1214;1214;1278;1214;1214;1214;1214;1214	ENSP00000395654:I1214L;ENSP00000350720:I1214L;ENSP00000343896:I1214L;ENSP00000445036:I1214L;ENSP00000392837:I1214L;ENSP00000397783:I1214L;ENSP00000414727:I1214L	ENSP00000343896:I1214L	I	+	1	0	SMARCA4	11005059	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	8.821000	0.92009	2.012000	0.59069	0.456000	0.33151	ATC		0.637	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		18	53	0	0	0	1	0	18	53				
KARS	3735	broad.mit.edu	37	16	75668148	75668148	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chr16:75668148C>T	ENST00000302445.3	-	7	877	c.838G>A	c.(838-840)Gcc>Acc	p.A280T	KARS_ENST00000568378.1_Intron|KARS_ENST00000319410.5_Missense_Mutation_p.A308T	NM_005548.2	NP_005539.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	280					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|lysyl-tRNA aminoacylation (GO:0006430)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)|viral process (GO:0016032)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|microtubule cytoskeleton (GO:0015630)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid binding (GO:0016597)|ATP binding (GO:0005524)|lysine-tRNA ligase activity (GO:0004824)|metal ion binding (GO:0046872)|tRNA binding (GO:0000049)			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	AAAGGCTTGGCCACGGCTCCC	0.448																																						ENST00000319410.5																			0				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18						c.(922-924)Gcc>Acc		lysyl-tRNA synthetase	L-Lysine(DB00123)						100.0	97.0	98.0					16																	75668148		2198	4300	6498	SO:0001583	missense	3735				interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding	g.chr16:75668148C>T	AF285758	CCDS10923.1, CCDS45532.1	16q23.1	2014-09-17			ENSG00000065427	ENSG00000065427	6.1.1.6	"""Aminoacyl tRNA synthetases / Class II"""	6215	protein-coding gene	gene with protein product	"""lysine tRNA ligase"""	601421	"""deafness, autosomal recessive 89"""	DFNB89		8812440, 9278442, 23768514	Standard	NM_005548		Approved	KARS2, KARS1	uc002fer.3	Q15046	OTTHUMG00000137609	ENST00000302445.3:c.838G>A	16.37:g.75668148C>T	ENSP00000303043:p.Ala280Thr					KARS_ENST00000568378.1_Intron|KARS_ENST00000302445.3_Missense_Mutation_p.A280T	p.A308T	NM_001130089.1	NP_001123561.1	Q15046	SYK_HUMAN			8	1043	-			280					A8MSK1|D3DUK4|O14946|Q96J25|Q9HB23	Missense_Mutation	SNP	ENST00000302445.3	37	c.922G>A	CCDS10923.1	.	.	.	.	.	.	.	.	.	.	C	36	5.901528	0.97087	.	.	ENSG00000065427	ENST00000319410;ENST00000302445	D;D	0.83755	-1.76;-1.76	5.7	5.7	0.88788	Lysyl-tRNA synthetase, class II, C-terminal (1);Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.000000	0.85682	D	0.000000	D	0.96084	0.8724	H	0.99937	4.99	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.989;0.998;0.997	D	0.98164	1.0448	10	0.87932	D	0	-11.6833	18.4169	0.90574	0.0:1.0:0.0:0.0	.	150;308;280	E9PDU1;Q15046-2;Q15046	.;.;SYK_HUMAN	T	308;280	ENSP00000325448:A308T;ENSP00000303043:A280T	ENSP00000303043:A280T	A	-	1	0	KARS	74225649	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.818000	0.86416	2.695000	0.91970	0.561000	0.74099	GCC		0.448	KARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269023.1	NM_005548		14	49	0	0	0	1	0	14	49				
TRBV20-1	28567	broad.mit.edu	37	7	142334684	142334684	+	RNA	SNP	G	G	A			TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chr7:142334684G>A	ENST00000390394.3	+	0	184									T cell receptor beta variable 20-1																		TGTGAAGATCGAGTGCCGTTC	0.522											OREG0018395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000390394.3																			0																				91.0	94.0	93.0					7																	142334684		1985	4155	6140			0							g.chr7:142334684G>A	M11955		7q34	2012-02-07			ENSG00000211747	ENSG00000211747		"""T cell receptors / TRB locus"""	12196	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV201, TCRBV20S1, TCRBV2S1			OTTHUMG00000158899		7.37:g.142334684G>A			OREG0018395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1670									0	184	+									RNA	SNP	ENST00000390394.3	37																																																																																						0.522	TRBV20-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352511.2	NG_001333		12	64	0	0	0	1	0	12	64				
LRRC37A4P	55073	broad.mit.edu	37	17	43625275	43625275	+	RNA	SNP	A	A	T			TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chr17:43625275A>T	ENST00000586411.1	-	0	1652				RP11-798G7.6_ENST00000586348.1_lincRNA																							TTTGGGTGTAACTTTCAGACT	0.493																																						ENST00000586348.1																			0																																																			0							g.chr17:43625275A>T																													17.37:g.43625275A>T														0	45	+									RNA	SNP	ENST00000586411.1	37																																																																																						0.493	RP11-798G7.7-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000452150.1			15	64	0	0	0	1	0	15	64				
COPG1	22820	broad.mit.edu	37	3	128990698	128990698	+	Silent	SNP	G	G	A	rs563330778		TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chr3:128990698G>A	ENST00000314797.6	+	19	2036	c.1932G>A	c.(1930-1932)acG>acA	p.T644T		NM_016128.3	NP_057212.1	Q9Y678	COPG1_HUMAN	coatomer protein complex, subunit gamma 1	644	Interaction with ZNF289/ARFGAP2.				COPI coating of Golgi vesicle (GO:0048205)|establishment of Golgi localization (GO:0051683)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|organelle transport along microtubule (GO:0072384)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)	structural molecule activity (GO:0005198)										AGTCAGAGACGGAGTATGTCA	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		19293	0.0		0.001	False		,,,				2504	0.0					ENST00000314797.6																			0											c.(1930-1932)acG>acA		coatomer protein complex, subunit gamma 1							74.0	60.0	65.0					3																	128990698		2203	4300	6503	SO:0001819	synonymous_variant	22820				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:128990698G>A	AB047846	CCDS33851.1	3q21.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000181789	ENSG00000181789			2236	protein-coding gene	gene with protein product	"""coat protein gamma-cop"""	615525	"""coatomer protein complex, subunit gamma"""	COPG		11056392	Standard	NM_016128		Approved		uc003els.3	Q9Y678	OTTHUMG00000159451	ENST00000314797.6:c.1932G>A	3.37:g.128990698G>A							p.T644T	NM_016128.3	NP_057212.1	Q9Y678	COPG_HUMAN			19	2036	+			644			Interaction with ZNF289/ARFGAP2.		A8K6M8|B3KMF6|Q54AC4	Silent	SNP	ENST00000314797.6	37	c.1932G>A	CCDS33851.1																																																																																				0.607	COPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355456.1	NM_016128		5	22	0	0	0	1	0	5	22				
CPEB4	80315	broad.mit.edu	37	5	173317158	173317158	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chr5:173317158C>A	ENST00000265085.5	+	1	1876	c.422C>A	c.(421-423)aCa>aAa	p.T141K	CPEB4_ENST00000334035.5_Missense_Mutation_p.T141K|CPEB4_ENST00000520867.1_Missense_Mutation_p.T141K|CPEB4_ENST00000519835.1_Missense_Mutation_p.T141K|CPEB4_ENST00000517880.1_5'Flank|CPEB4_ENST00000522336.1_5'Flank	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	141					cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CCAGTGTTGACAGGGTTTGAT	0.453																																						ENST00000265085.5																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20						c.(421-423)aCa>aAa		cytoplasmic polyadenylation element binding protein 4							102.0	105.0	104.0					5																	173317158		2203	4300	6503	SO:0001583	missense	80315						nucleotide binding|RNA binding	g.chr5:173317158C>A	BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"""RNA binding motif (RRM) containing"""	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.422C>A	5.37:g.173317158C>A	ENSP00000265085:p.Thr141Lys					CPEB4_ENST00000334035.5_Missense_Mutation_p.T141K|CPEB4_ENST00000519835.1_Missense_Mutation_p.T141K|CPEB4_ENST00000520867.1_Missense_Mutation_p.T141K	p.T141K	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		1	1876	+	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	141					B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Missense_Mutation	SNP	ENST00000265085.5	37	c.422C>A	CCDS4390.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.064732	0.55432	.	.	ENSG00000113742	ENST00000265085;ENST00000520867;ENST00000334035;ENST00000519835	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.32376	0.0827	N	0.19112	0.55	0.80722	D	1	B;P;P;B	0.38020	0.415;0.551;0.615;0.415	B;B;B;B	0.33454	0.079;0.164;0.164;0.079	T	0.12344	-1.0551	10	0.52906	T	0.07	-8.1042	20.422	0.99049	0.0:1.0:0.0:0.0	.	141;141;141;141	B7ZLQ8;Q17RY0-2;E5RJM0;Q17RY0	.;.;.;CPEB4_HUMAN	K	141	ENSP00000265085:T141K;ENSP00000429092:T141K;ENSP00000334533:T141K;ENSP00000429048:T141K	ENSP00000265085:T141K	T	+	2	0	CPEB4	173249764	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.456000	0.80751	2.832000	0.97577	0.655000	0.94253	ACA		0.453	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252964.2	NM_030627		6	77	1	0	4.096e-09	1	4.42811e-09	6	77				
HSF5	124535	broad.mit.edu	37	17	56557586	56557586	+	Missense_Mutation	SNP	T	T	G			TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chr17:56557586T>G	ENST00000323777.3	-	2	702	c.593A>C	c.(592-594)gAt>gCt	p.D198A		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	198					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGACAAACTATCTCGACGAAA	0.433																																						ENST00000323777.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16						c.(592-594)gAt>gCt		heat shock transcription factor family member 5							85.0	78.0	80.0					17																	56557586		2203	4300	6503	SO:0001583	missense	124535					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:56557586T>G	BC033020	CCDS32690.1	17q23.2	2006-04-25				ENSG00000176160			26862	protein-coding gene	gene with protein product							Standard	NM_001080439		Approved	FLJ40311	uc002iwi.1	Q4G112		ENST00000323777.3:c.593A>C	17.37:g.56557586T>G	ENSP00000313243:p.Asp198Ala						p.D198A	NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN			2	702	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		198					Q08EH7|Q8N7V2	Missense_Mutation	SNP	ENST00000323777.3	37	c.593A>C	CCDS32690.1	.	.	.	.	.	.	.	.	.	.	T	20.0	3.931371	0.73442	.	.	ENSG00000176160	ENST00000412540;ENST00000323777	T	0.50813	0.73	5.62	5.62	0.85841	.	0.092424	0.46145	D	0.000302	T	0.35480	0.0933	N	0.24115	0.695	0.44918	D	0.997931	P	0.44690	0.841	B	0.41374	0.355	T	0.14172	-1.0482	10	0.33940	T	0.23	.	13.1957	0.59736	0.0:0.0:0.0:1.0	.	198	Q4G112	HSF5_HUMAN	A	98;198	ENSP00000313243:D198A	ENSP00000313243:D198A	D	-	2	0	HSF5	53912585	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.439000	0.52878	2.138000	0.66242	0.533000	0.62120	GAT		0.433	HSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444719.1	XM_064190		10	20	0	0	0	1	0	10	20				
LOC101927905	101927905	broad.mit.edu	37	12	8386973	8386973	+	lincRNA	SNP	C	C	T			TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chr12:8386973C>T	ENST00000304751.9	+	0	0				FAM86FP_ENST00000427893.2_RNA																							AGCCAGCCTCCGCAGGACCCC	0.592													.|||	4	0.000798722	0.0008	0.0029	5008	,	,		-128	0.0		0.001	False		,,,				2504	0.0					ENST00000427893.2																			0																																																			0							g.chr12:8386973C>T																													12.37:g.8386973C>T														0	793	-									RNA	SNP	ENST00000304751.9	37																																																																																						0.592	RP11-266K4.9-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000400464.1			3	37	0	0	0	1	0	3	37				
ZNF34	80778	broad.mit.edu	37	8	145998934	145998934	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chr8:145998934C>A	ENST00000343459.4	-	6	1465	c.1400G>T	c.(1399-1401)aGa>aTa	p.R467I	ZNF34_ENST00000429371.2_Missense_Mutation_p.R446I			Q8IZ26	ZNF34_HUMAN	zinc finger protein 34	467					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)		TGTGTGGATTCTCTGGTGCTG	0.537																																						ENST00000429371.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						c.(1336-1338)aGa>aTa		zinc finger protein 34							88.0	88.0	88.0					8																	145998934		2203	4300	6503	SO:0001583	missense	80778				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:145998934C>A	BC028136	CCDS47945.1, CCDS69562.1	8q24	2013-01-08	2006-05-11					"""Zinc fingers, C2H2-type"", ""-"""	13098	protein-coding gene	gene with protein product		194526	"""zinc finger protein 34 (KOX 32)"""			8104631, 2014798	Standard	XM_005272349		Approved	KOX32	uc003zdy.4	Q8IZ26		ENST00000343459.4:c.1400G>T	8.37:g.145998934C>A	ENSP00000341528:p.Arg467Ile					ZNF34_ENST00000343459.4_Missense_Mutation_p.R467I	p.R446I	NM_030580.3	NP_085057.3	Q8IZ26	ZNF34_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)	6	1490	-	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	467					D3DWN1|Q9BSZ0	Missense_Mutation	SNP	ENST00000343459.4	37	c.1337G>T	CCDS47945.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.522834	0.44866	.	.	ENSG00000196378	ENST00000449516;ENST00000527190;ENST00000343459;ENST00000429371	T;T	0.24908	1.83;1.83	3.54	2.63	0.31362	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35677	N	0.003047	T	0.40372	0.1114	M	0.73753	2.245	0.44024	D	0.996748	D;D	0.60160	0.987;0.987	P;P	0.58820	0.795;0.846	T	0.24764	-1.0151	10	0.59425	D	0.04	.	6.5082	0.22206	0.0:0.706:0.1889:0.1051	.	426;467	E7EN25;Q8IZ26	.;ZNF34_HUMAN	I	426;396;467;446	ENSP00000341528:R467I;ENSP00000396894:R446I	ENSP00000341528:R467I	R	-	2	0	ZNF34	145969738	0.000000	0.05858	0.372000	0.25991	0.396000	0.30629	0.056000	0.14256	1.003000	0.39130	0.563000	0.77884	AGA		0.537	ZNF34-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000382936.1	NM_030580		4	44	1	0	1	1	1	4	44				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							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		5	41	0	0	0	1	0	5	41				
ZNF878	729747	broad.mit.edu	37	19	12155673	12155673	+	Missense_Mutation	SNP	A	A	C			TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chr19:12155673A>C	ENST00000547628.1	-	4	680	c.543T>G	c.(541-543)agT>agG	p.S181R	CTD-2006C1.10_ENST00000547473.1_Intron|ZNF878_ENST00000602107.1_Missense_Mutation_p.S228R|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	181					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AACTGGGAAAACTGAATGCTT	0.403																																						ENST00000602107.1																			0				cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(682-684)agT>agG		zinc finger protein 878							189.0	199.0	196.0					19																	12155673		2112	4260	6372	SO:0001583	missense	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12155673A>C		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"""Zinc fingers, C2H2-type"", ""-"""	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.543T>G	19.37:g.12155673A>C	ENSP00000447931:p.Ser181Arg					CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.S181R|CTD-2006C1.2_ENST00000591838.1_RNA	p.S228R			C9JN71	ZN878_HUMAN			5	683	-			181						Missense_Mutation	SNP	ENST00000547628.1	37	c.684T>G	CCDS45984.2	.	.	.	.	.	.	.	.	.	.	a	0	-2.730166	0.00089	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.07216	3.21	1.24	-2.47	0.06442	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03871	0.0109	N	0.12831	0.26	0.09310	N	1	B	0.11235	0.004	B	0.15484	0.013	T	0.39231	-0.9624	9	0.21540	T	0.41	.	5.2308	0.15420	0.5561:0.2971:0.0:0.1468	.	181	C9JN71	ZN878_HUMAN	R	181;228	ENSP00000447931:S181R	ENSP00000447931:S181R	S	-	3	2	AC022415.4;ZNF878	12016673	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.404000	0.07205	-2.785000	0.00359	-2.885000	0.00097	AGT		0.403	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		5	202	0	0	0	1	0	5	202				
PGS1	9489	broad.mit.edu	37	17	76395604	76395604	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chr17:76395604C>A	ENST00000262764.6	+	5	713	c.687C>A	c.(685-687)agC>agA	p.S229R	PGS1_ENST00000588281.1_3'UTR|SNORA30_ENST00000363193.1_RNA|PGS1_ENST00000329897.7_Missense_Mutation_p.S94R	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1	229	PLD phosphodiesterase 1. {ECO:0000255|PROSITE-ProRule:PRU00153}.				cardiolipin biosynthetic process (GO:0032049)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity (GO:0008444)			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			TCGACAACAGCGTCATCTTGA	0.597																																					Esophageal Squamous(45;182 1126 10685 43198)	ENST00000262764.6																			0				cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10						c.(685-687)agC>agA		phosphatidylglycerophosphate synthase 1							94.0	95.0	94.0					17																	76395604		2134	4242	6376	SO:0001583	missense	9489				phospholipid biosynthetic process	endoplasmic reticulum|mitochondrion	ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity	g.chr17:76395604C>A		CCDS42391.1	17q25.3	2006-02-09							30029	protein-coding gene	gene with protein product		614942				9880566	Standard	XR_243691		Approved	DKFZP762M186	uc002jvm.3	Q32NB8		ENST00000262764.6:c.687C>A	17.37:g.76395604C>A	ENSP00000262764:p.Ser229Arg					PGS1_ENST00000588281.1_3'UTR|PGS1_ENST00000329897.7_Missense_Mutation_p.S94R	p.S229R	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)		5	713	+			229			PLD phosphodiesterase 1.		B7ZA32|Q8IYK9|Q8TA85|Q96A75|Q9H7G9|Q9NPW7	Missense_Mutation	SNP	ENST00000262764.6	37	c.687C>A	CCDS42391.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.669144	0.47677	.	.	ENSG00000087157	ENST00000262764;ENST00000329897;ENST00000335081	T;T	0.19669	2.13;2.13	5.7	-11.4	0.00090	Phospholipase D/Transphosphatidylase (1);	0.285139	0.42821	D	0.000659	T	0.17831	0.0428	L	0.33485	1.01	0.09310	N	0.999992	P	0.43885	0.82	P	0.48227	0.571	T	0.50440	-0.8828	10	0.24483	T	0.36	-25.0196	21.1184	0.99946	0.0:0.3093:0.0:0.6907	.	229	Q32NB8	PGPS1_HUMAN	R	229;94;94	ENSP00000262764:S229R;ENSP00000330039:S94R	ENSP00000262764:S229R	S	+	3	2	PGS1	73907199	0.000000	0.05858	0.000000	0.03702	0.943000	0.58893	-1.140000	0.03210	-2.449000	0.00544	-0.126000	0.14955	AGC		0.597	PGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437301.1	NM_024419		4	45	1	0	0.000602214	1	0.000617656	4	45				
PCDHGA3	56112	broad.mit.edu	37	5	140723673	140723673	+	Missense_Mutation	SNP	G	G	C			TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chr5:140723673G>C	ENST00000253812.6	+	1	73	c.73G>C	c.(73-75)Gaa>Caa	p.E25Q	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	25					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGCTGTGCGAAACAGGATC	0.567											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000253812.6																			0				breast(1)	1						c.(73-75)Gaa>Caa									121.0	134.0	129.0					5																	140723673		2084	4254	6338	SO:0001583	missense	0							g.chr5:140723673G>C	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.73G>C	5.37:g.140723673G>C	ENSP00000253812:p.Glu25Gln		OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1658	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.E25Q	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	73	+								Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	37	c.73G>C	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	0.022	-1.412530	0.01145	.	.	ENSG00000254245	ENST00000253812	T	0.48522	0.81	5.54	-0.0829	0.13696	Cadherin (1);	0.987069	0.08179	U	0.985774	T	0.38585	0.1046	L	0.49778	1.585	0.09310	N	1	B;B	0.16396	0.008;0.017	B;B	0.21151	0.033;0.025	T	0.31194	-0.9952	10	0.26408	T	0.33	.	6.2094	0.20621	0.2595:0.2389:0.5016:0.0	.	25;25	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	Q	25	ENSP00000253812:E25Q	ENSP00000253812:E25Q	E	+	1	0	PCDHGA3	140703857	.	.	0.000000	0.03702	0.049000	0.14656	.	.	-0.249000	0.09569	-0.982000	0.02568	GAA		0.567	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		26	120	0	0	0	1	0	26	120				
FAT3	120114	broad.mit.edu	37	11	92085830	92085830	+	Silent	SNP	C	C	T	rs536537428	byFrequency	TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chr11:92085830C>T	ENST00000298047.6	+	1	569	c.552C>T	c.(550-552)gaC>gaT	p.D184D	FAT3_ENST00000409404.2_Silent_p.D184D|FAT3_ENST00000541502.1_Silent_p.D184D|FAT3_ENST00000525166.1_Silent_p.D34D			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	184	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D184D(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTGCAACAGACGCAGATATTG	0.423										TCGA Ovarian(4;0.039)			c|||	3	0.000599042	0.0	0.0	5008	,	,		18501	0.001		0.0	False		,,,				2504	0.002					ENST00000298047.6																			2	Substitution - coding silent(2)	p.D184D(2)	kidney(2)	NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(550-552)gaC>gaT		FAT atypical cadherin 3							61.0	60.0	61.0					11																	92085830		1870	4113	5983	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92085830C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.552C>T	11.37:g.92085830C>T		TCGA Ovarian(4;0.039)				FAT3_ENST00000525166.1_Silent_p.D34D|FAT3_ENST00000409404.2_Silent_p.D184D|FAT3_ENST00000541502.1_Silent_p.D184D	p.D184D			Q8TDW7	FAT3_HUMAN			1	569	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	184			Cadherin 2.		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.552C>T																																																																																					0.423	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		6	35	0	0	0	1	0	6	35				
ABCB1	5243	broad.mit.edu	37	7	87160785	87160785	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chr7:87160785G>A	ENST00000265724.3	-	22	2927	c.2510C>T	c.(2509-2511)aCc>aTc	p.T837I	ABCB1_ENST00000543898.1_Missense_Mutation_p.T773I|ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	837	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	TATATTCTGGGTAATTACAGC	0.328																																						ENST00000265724.3																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111						c.(2509-2511)aCc>aTc		ATP-binding cassette, sub-family B (MDR/TAP), member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						86.0	85.0	85.0					7																	87160785		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87160785G>A	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.2510C>T	7.37:g.87160785G>A	ENSP00000265724:p.Thr837Ile					ABCB1_ENST00000543898.1_Missense_Mutation_p.T773I|ABCB1_ENST00000488737.2_5'UTR	p.T837I	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN			22	2927	-	Esophageal squamous(14;0.00164)		837			ABC transmembrane type-1 2.		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.2510C>T	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.571943	0.28092	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.88509	-2.39;-2.39	5.43	4.54	0.55810	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.483231	0.23696	N	0.045468	T	0.80929	0.4718	N	0.10664	0.02	0.31589	N	0.654133	B;B	0.30361	0.004;0.277	B;B	0.39339	0.037;0.297	T	0.76950	-0.2769	10	0.15499	T	0.54	-2.3206	14.9242	0.70862	0.0704:0.0:0.9296:0.0	.	773;837	B5AK60;P08183	.;MDR1_HUMAN	I	618;837;773	ENSP00000265724:T837I;ENSP00000444095:T773I	ENSP00000265724:T837I	T	-	2	0	ABCB1	86998721	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	6.936000	0.75892	1.397000	0.46682	0.491000	0.48974	ACC		0.328	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		9	33	0	0	0	1	0	9	33				
IFRD2	7866	broad.mit.edu	37	3	50330064	50330064	+	5'Flank	SNP	G	G	A			TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chr3:50330064G>A	ENST00000429673.2	-	0	0				IFRD2_ENST00000436390.1_5'UTR|IFRD2_ENST00000336089.4_Missense_Mutation_p.R81C|IFRD2_ENST00000484043.1_5'Flank|IFRD2_ENST00000417626.2_5'Flank			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2							nucleus (GO:0005634)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		AATGCCCTGCGCGCGCCCCAG	0.662																																						ENST00000336089.4																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14						c.(241-243)Cgc>Tgc		interferon-related developmental regulator 2							41.0	43.0	42.0					3																	50330064		876	1991	2867	SO:0001631	upstream_gene_variant	7866						binding	g.chr3:50330064G>A	U09585		3p21.3	2008-07-18			ENSG00000214706	ENSG00000214706			5457	protein-coding gene	gene with protein product	"""interferon-related protein"""	602725				9050919	Standard	NM_006764		Approved	SKMc15, SM15, IFNRP	uc011bdp.2	Q12894	OTTHUMG00000156935		3.37:g.50330064G>A	Exception_encountered					IFRD2_ENST00000436390.1_5'UTR	p.R81C			Q12894	IFRD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	2	240	-			86					Q9BVB4|Q9UJ88	Missense_Mutation	SNP	ENST00000429673.2	37	c.241C>T	CCDS46831.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.861837	0.71949	.	.	ENSG00000214706	ENST00000336089	T	0.56444	0.46	5.03	-0.591	0.11675	.	1.100910	0.07083	N	0.837347	T	0.35393	0.0930	.	.	.	0.09310	N	0.999996	B	0.06786	0.001	B	0.04013	0.001	T	0.36163	-0.9759	9	0.87932	D	0	-0.9333	1.3351	0.02143	0.2012:0.3136:0.325:0.1602	.	81	Q9UJ88	.	C	81	ENSP00000336936:R81C	ENSP00000336936:R81C	R	-	1	0	IFRD2	50305068	0.000000	0.05858	0.000000	0.03702	0.232000	0.25224	-0.022000	0.12480	0.055000	0.16094	-0.137000	0.14449	CGC		0.662	IFRD2-202	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_006764		12	48	0	0	0	1	0	12	48				
DPPA5	340168	broad.mit.edu	37	6	74063897	74063897	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chr6:74063897C>T	ENST00000370370.3	-	1	121	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K		NM_001025290.2	NP_001020461.1	A6NC42	DPPA5_HUMAN	developmental pluripotency associated 5	18					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|endometrium(1)|lung(5)	7						TTCAGGTCTTCGGGAACTTTC	0.587																																						ENST00000370370.3																			0				NS(1)|endometrium(1)|lung(5)	7						c.(52-54)Gaa>Aaa		developmental pluripotency associated 5							75.0	68.0	70.0					6																	74063897		2203	4300	6503	SO:0001583	missense	340168				multicellular organismal development	cytoplasm	RNA binding	g.chr6:74063897C>T		CCDS34483.1	6q13	2014-01-28			ENSG00000203909	ENSG00000203909			19201	protein-coding gene	gene with protein product		611111					Standard	NM_001025290		Approved	Esg1	uc003pgs.2	A6NC42	OTTHUMG00000015025	ENST00000370370.3:c.52G>A	6.37:g.74063897C>T	ENSP00000359396:p.Glu18Lys						p.E18K	NM_001025290.2	NP_001020461.1	A6NC42	DPPA5_HUMAN			1	121	-			18					B2RPQ7	Missense_Mutation	SNP	ENST00000370370.3	37	c.52G>A	CCDS34483.1	.	.	.	.	.	.	.	.	.	.	C	12.51	1.959065	0.34565	.	.	ENSG00000203909	ENST00000370370	T	0.11277	2.79	3.7	3.7	0.42460	.	0.850028	0.10232	N	0.699519	T	0.01627	0.0052	N	0.11201	0.11	0.09310	N	1	P	0.39624	0.681	B	0.25291	0.059	T	0.34950	-0.9808	10	0.26408	T	0.33	.	11.3117	0.49368	0.0:1.0:0.0:0.0	.	18	A6NC42	DPPA5_HUMAN	K	18	ENSP00000359396:E18K	ENSP00000359396:E18K	E	-	1	0	DPPA5	74120618	0.011000	0.17503	0.006000	0.13384	0.079000	0.17450	0.365000	0.20348	2.392000	0.81423	0.485000	0.47835	GAA		0.587	DPPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041203.3	NM_001025290		14	50	0	0	0	1	0	14	50				
KRTAP4-8	728224	broad.mit.edu	37	17	39254054	39254054	+	Missense_Mutation	SNP	A	A	T	rs76270529		TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chr17:39254054A>T	ENST00000333822.4	-	1	339	c.283T>A	c.(283-285)Tgc>Agc	p.C95S		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	95	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.C95S(4)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						ctggagatgcagcagcTAGGG	0.677																																						ENST00000333822.4																			4	Substitution - Missense(4)	p.C95S(4)	endometrium(3)|kidney(1)	endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						c.(283-285)Tgc>Agc		keratin associated protein 4-8							7.0	11.0	10.0					17																	39254054		685	1582	2267	SO:0001583	missense	728224					keratin filament		g.chr17:39254054A>T	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"""Keratin associated proteins"""	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.283T>A	17.37:g.39254054A>T	ENSP00000328444:p.Cys95Ser						p.C95S	NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN			1	339	-			95			25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].		A8MSH3	Missense_Mutation	SNP	ENST00000333822.4	37	c.283T>A	CCDS45674.1	.	.	.	.	.	.	.	.	.	.	.	15.18	2.755714	0.49362	.	.	ENSG00000204880	ENST00000333822;ENST00000332991	T	0.02280	4.36	3.11	2.01	0.26516	.	0.000000	0.52532	U	0.000067	T	0.04497	0.0123	M	0.83223	2.63	0.25182	N	0.99019	B	0.21606	0.058	B	0.27887	0.084	T	0.21793	-1.0235	10	0.54805	T	0.06	.	6.3859	0.21559	0.8715:0.0:0.1285:0.0	.	95	Q9BYQ9	KRA48_HUMAN	S	95;80	ENSP00000328444:C95S	ENSP00000414561:C80S	C	-	1	0	KRTAP4-8	36507580	0.999000	0.42202	0.393000	0.26258	0.649000	0.38597	3.122000	0.50446	0.404000	0.25506	0.374000	0.22700	TGC		0.677	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960		4	15	0	0	0	1	0	4	15				
EMC3	55831	broad.mit.edu	37	3	10011467	10011468	+	Frame_Shift_Ins	INS	-	-	T			TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chr3:10011467_10011468insT	ENST00000245046.2	-	7	1050_1051	c.592_593insA	c.(592-594)atgfs	p.M198fs	EMC3_ENST00000497557.1_5'UTR	NM_018447.2	NP_060917.1	Q9P0I2	EMC3_HUMAN	ER membrane protein complex subunit 3	198						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											CTCCTGCATCATTCGTGATTGG	0.525																																						ENST00000245046.2																			0											c.(592-594)gatfs		ER membrane protein complex subunit 3																																				SO:0001589	frameshift_variant	55831							g.chr3:10011467_10011468insT	AF157321	CCDS2594.1	3p25.3	2012-05-23	2012-05-23	2012-05-23	ENSG00000125037	ENSG00000125037			23999	protein-coding gene	gene with protein product			"""transmembrane protein 111"""	TMEM111		19797678, 22119785	Standard	NM_018447		Approved		uc003bun.3	Q9P0I2	OTTHUMG00000128652	ENST00000245046.2:c.593dupA	3.37:g.10011469_10011469dupT	ENSP00000245046:p.Met198fs					EMC3_ENST00000497557.1_5'UTR	p.D198fs	NM_018447.2	NP_060917.1					7	1050_1051	-								B2R4Z9|Q53GH8|Q6ZMC2	Frame_Shift_Ins	INS	ENST00000245046.2	37	c.592_593insA	CCDS2594.1																																																																																				0.525	EMC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250532.1	NM_018447		20	71						20	71	---	---	---	---
EEF1A1	1915	broad.mit.edu	37	6	74228229	74228244	+	Frame_Shift_Del	DEL	CGACAGATTTTACTTC	CGACAGATTTTACTTC	-	rs200820708		TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chr6:74228229_74228244delCGACAGATTTTACTTC	ENST00000316292.9	-	5	1853_1868	c.862_877delGAAGTAAAATCTGTCG	c.(862-879)gaagtaaaatctgtcgaafs	p.EVKSVE288fs	EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000331523.2_Frame_Shift_Del_p.EVKSVE288fs|EEF1A1_ENST00000309268.6_Frame_Shift_Del_p.EVKSVE288fs	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	288					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)	p.V292V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						TGGTGCATTTCGACAGATTTTACTTCCGTTGTAACG	0.468											OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000316292.9																			1	Substitution - coding silent(1)	p.V292V(1)	kidney(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						c.(862-879)aafs		eukaryotic translation elongation factor 1 alpha 1																																				SO:0001589	frameshift_variant	1915					cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr6:74228229_74228244delCGACAGATTTTACTTC	BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"""leukocyte receptor cluster (LRC) member 7"""	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.862_877delGAAGTAAAATCTGTCG	6.37:g.74228229_74228244delCGACAGATTTTACTTC	ENSP00000339063:p.Glu288fs		OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1151	EEF1A1_ENST00000331523.2_Frame_Shift_Del_p.EVKSVE288fs|EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000309268.6_Frame_Shift_Del_p.EVKSVE288fs	p.EVKSVE288fs	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN			5	1853_1868	-			288					P04719|P04720|Q6IQ15	Frame_Shift_Del	DEL	ENST00000316292.9	37	c.862_877delGAAGTAAAATCTGTCG	CCDS4980.1																																																																																				0.468	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041210.2	NM_001402		7	33						7	33	---	---	---	---
PTEN	5728	broad.mit.edu	37	10	89653814	89653814	+	Frame_Shift_Del	DEL	C	C	-	rs587780004		TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chr10:89653814delC	ENST00000371953.3	+	2	1469	c.112delC	c.(112-114)cctfs	p.P38fs		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	38	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(8)|p.P38S(5)|p.Y27fs*1(2)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TATGGGATTTCCTGCAGAAAG	0.284		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		52	Whole gene deletion(37)|Unknown(8)|Substitution - Missense(5)|Deletion - Frameshift(2)	p.0?(37)|p.?(8)|p.P38S(5)|p.Y27fs*1(2)	prostate(14)|skin(12)|central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(4)|lung(4)|ovary(3)|breast(2)|NS(2)|soft_tissue(1)|urinary_tract(1)|kidney(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(112-114)ctfs		phosphatase and tensin homolog							112.0	112.0	112.0					10																	89653814		2203	4296	6499	SO:0001589	frameshift_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89653814delC	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.112delC	10.37:g.89653814delC	ENSP00000361021:p.Pro38fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.P38fs	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	2	1469	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	38			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	37	c.112delC	CCDS31238.1																																																																																				0.284	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		15	33						15	33	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102293062	102293064	+	RNA	DEL	CTC	CTC	-	rs4965539|rs62026972	byFrequency	TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chr15:102293062_102293064delCTC	ENST00000561463.1	+	0	1108_1110									DNM1 pseudogene 47																		AGTTCATCTTCTCAGAGCTGCTG	0.576																																						ENST00000561463.1																			0																																																			0							g.chr15:102293062_102293064delCTC	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102293062_102293064delCTC														0	1108_1110	+									RNA	DEL	ENST00000561463.1	37																																																																																						0.576	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		4	8						4	8	---	---	---	---
ZNF878	729747	broad.mit.edu	37	19	12157184	12157184	+	Splice_Site	DEL	T	T	-			TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chr19:12157184delT	ENST00000547628.1	-	3	327	c.190delA	c.(190-192)aga>ga	p.R65fs	CTD-2006C1.10_ENST00000547473.1_Splice_Site_p.R64fs|ZNF878_ENST00000602107.1_Splice_Site_p.R112fs|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	65	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						GCCAGTTACCTTAGGTTTCTC	0.348																																						ENST00000602107.1																			0				cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.e4+1		zinc finger protein 878							138.0	116.0	123.0					19																	12157184		1842	4086	5928	SO:0001630	splice_region_variant	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12157184delT		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"""Zinc fingers, C2H2-type"", ""-"""	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.191+1A>-	19.37:g.12157184delT						ZNF878_ENST00000547628.1_Splice_Site_p.R65_splice|CTD-2006C1.10_ENST00000547473.1_Splice_Site_p.R64_splice	p.R112_splice			C9JN71	ZN878_HUMAN			4	330	-			65						Splice_Site	DEL	ENST00000547628.1	37	c.332_splice	CCDS45984.2																																																																																				0.348	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404	Frame_Shift_Del	2	4						2	4	---	---	---	---
IRGQ	126298	broad.mit.edu	37	19	44096566	44096568	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chr19:44096566_44096568delGCC	ENST00000602269.1	-	2	1667_1669	c.1482_1484delGGC	c.(1480-1485)gcggca>gca	p.494_495AA>A	L34079.2_ENST00000594374.1_Intron|IRGQ_ENST00000422989.1_In_Frame_Del_p.494_495AA>A|IRGQ_ENST00000601520.1_Intron			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	494	Ala-rich.							p.A495delA(1)		endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				TGGGAGTGGTGCCGCCGCCGCCG	0.729																																						ENST00000422989.1																			1	Deletion - In frame(1)	p.A495delA(1)	large_intestine(1)	endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18						c.(1480-1485)gca>gc		immunity-related GTPase family, Q				20,2370		4,12,1179						-8.0	0.1			4	37,5111		2,33,2539	no	coding	IRGQ	NM_001007561.2		6,45,3718	A1A1,A1R,RR		0.7187,0.8368,0.7562				57,7481				SO:0001651	inframe_deletion	126298						protein binding	g.chr19:44096566_44096568delGCC	AF322648	CCDS33040.1	19q13.31	2013-07-03	2005-10-31	2005-10-31		ENSG00000167378			24868	protein-coding gene	gene with protein product			"""immunity-related GTPase family, Q1"""	IRGQ1		16277747	Standard	NM_001007561		Approved	FKSG27	uc010eiv.2	Q8WZA9		ENST00000602269.1:c.1482_1484delGGC	19.37:g.44096575_44096577delGCC	ENSP00000472250:p.Ala495del					L34079.2_ENST00000594374.1_Intron|IRGQ_ENST00000602269.1_In_Frame_Del_p.AA494del|IRGQ_ENST00000601520.1_Intron	p.AA494del	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN			3	1637_1639	-		Prostate(69;0.0199)	494			Ala-rich.		B2RNP3	In_Frame_Del	DEL	ENST00000602269.1	37	c.1482_1484delGGC	CCDS33040.1																																																																																				0.729	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463205.1	NM_001007561		2	4						2	4	---	---	---	---
OTC	5009	broad.mit.edu	37	X	38229085	38229086	+	Frame_Shift_Ins	INS	-	-	T			TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chrX:38229085_38229086insT	ENST00000039007.4	+	3	405_406	c.253_254insT	c.(253-255)attfs	p.I85fs	TM4SF2_ENST00000465127.1_Intron|OTC_ENST00000488812.1_3'UTR	NM_000531.5	NP_000522.3	P00480	OTC_HUMAN	ornithine carbamoyltransferase	85					ammonia homeostasis (GO:0097272)|arginine biosynthetic process (GO:0006526)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|liver development (GO:0001889)|midgut development (GO:0007494)|ornithine catabolic process (GO:0006593)|protein homotrimerization (GO:0070207)|response to biotin (GO:0070781)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|ornithine carbamoyltransferase activity (GO:0004585)|phosphate ion binding (GO:0042301)|phospholipid binding (GO:0005543)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	CTTAGGCATGATTTTTGAGAAA	0.322																																						ENST00000039007.4																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(253-255)tttfs		ornithine carbamoyltransferase	L-Citrulline(DB00155)|L-Ornithine(DB00129)																																			SO:0001589	frameshift_variant	5009				arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity	g.chrX:38229085_38229086insT	K02100	CCDS14247.1	Xp21.1	2014-06-28			ENSG00000036473	ENSG00000036473	2.1.3.3		8512	protein-coding gene	gene with protein product		300461					Standard	NM_000531		Approved		uc004def.4	P00480	OTTHUMG00000022727	ENST00000039007.4:c.258dupT	X.37:g.38229090_38229090dupT	ENSP00000039007:p.Ile85fs					OTC_ENST00000488812.1_3'UTR|TM4SF2_ENST00000465127.1_Intron	p.F85fs	NM_000531.5	NP_000522.3	P00480	OTC_HUMAN			3	405_406	+			85					A8K9P2|D3DWB0|Q3KNR1|Q6B0I1|Q9NYJ5	Frame_Shift_Ins	INS	ENST00000039007.4	37	c.253_254insT	CCDS14247.1																																																																																				0.322	OTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059006.2			20	34						20	34	---	---	---	---
CYSLTR1	10800	broad.mit.edu	37	X	77528275	77528276	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chrX:77528275_77528276insTT	ENST00000373304.3	-	3	1260_1261	c.968_969insAA	c.(967-969)aagfs	p.K323fs		NM_001282187.1|NM_001282188.1|NM_006639.3	NP_001269116.1|NP_001269117.1|NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	323					defense response (GO:0006952)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|respiratory gaseous exchange (GO:0007585)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	leukotriene receptor activity (GO:0004974)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	AAGAGGCCTTCTTTCTGGGTAC	0.366																																						ENST00000373304.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14						c.(967-969)aaafs		cysteinyl leukotriene receptor 1	Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)																																			SO:0001589	frameshift_variant	0				elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity	g.chrX:77528275_77528276insTT	AF119711	CCDS14439.1	Xq13-q21	2012-08-10			ENSG00000173198	ENSG00000173198		"""GPCR / Class A : Leukotriene receptors"""	17451	protein-coding gene	gene with protein product		300201				10391245, 10462554	Standard	NM_006639		Approved	CysLT1, CysLT(1), CYSLT1R	uc004edb.3	Q9Y271	OTTHUMG00000021889	ENST00000373304.3:c.967_968dupAA	X.37:g.77528276_77528277dupTT	ENSP00000362401:p.Lys323fs						p.K323fs	NM_006639.2	NP_006630.1	Q9Y271	CLTR1_HUMAN			3	1260_1261	-			323					B2R954|D3DTE4|Q5JS94|Q8IV19	Frame_Shift_Ins	INS	ENST00000373304.3	37	c.968_969insAA	CCDS14439.1																																																																																				0.366	CYSLTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057315.1			12	23						12	23	---	---	---	---
TXLNGY	246126	broad.mit.edu	37	Y	21758039	21758039	+	RNA	DEL	A	A	-			TCGA-ZG-A9L2-01A-31D-A41K-08	TCGA-ZG-A9L2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c18a4706-70cf-463a-be68-fffa9c36c5d6	63ce1033-5b0b-48a7-9a5c-3e0ac6cad45d	g.chrY:21758039delA	ENST00000253320.4	+	0	3120																				haematopoietic_and_lymphoid_tissue(1)	1						TACTTCTTGGAAAAAAAAAAA	0.378													GA	15	0.0125209	0.0063	0.0059	1198	,	,		6405	0.0082		0.0063	False		,,,				1198	0.0038					ENST00000253320.4																			0				haematopoietic_and_lymphoid_tissue(1)	1																																														0							g.chrY:21758039delA																													Y.37:g.21758039delA										Q9BZA5	CY15A_HUMAN			0	3120	+									RNA	DEL	ENST00000253320.4	37																																																																																						0.378	TXLNG2P-012	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000088781.1			2	4						2	4	---	---	---	---
