#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
MECOM	2122	broad.mit.edu	37	3	168838969	168838969	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr3:168838969C>T	ENST00000464456.1	-	6	1643	c.443G>A	c.(442-444)cGg>cAg	p.R148Q	MECOM_ENST00000472280.1_Missense_Mutation_p.R149Q|MECOM_ENST00000392736.3_Missense_Mutation_p.R148Q|MECOM_ENST00000460814.1_Missense_Mutation_p.R148Q|MECOM_ENST00000494292.1_Missense_Mutation_p.R336Q|MECOM_ENST00000433243.2_Missense_Mutation_p.R149Q|MECOM_ENST00000264674.3_Missense_Mutation_p.R213Q|MECOM_ENST00000468789.1_Missense_Mutation_p.R148Q	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GCGAATGTGCCGCTGAAGGTT	0.517																																						ENST00000464456.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						c.(442-444)cGg>cAg		MDS1 and EVI1 complex locus							83.0	80.0	81.0					3																	168838969		2203	4300	6503	SO:0001583	missense	2122						sequence-specific DNA binding transcription factor activity	g.chr3:168838969C>T	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.443G>A	3.37:g.168838969C>T	ENSP00000419770:p.Arg148Gln					MECOM_ENST00000494292.1_Missense_Mutation_p.R336Q|MECOM_ENST00000468789.1_Missense_Mutation_p.R148Q|MECOM_ENST00000472280.1_Missense_Mutation_p.R149Q|MECOM_ENST00000392736.3_Missense_Mutation_p.R148Q|MECOM_ENST00000264674.3_Missense_Mutation_p.R213Q|MECOM_ENST00000460814.1_Missense_Mutation_p.R148Q|MECOM_ENST00000433243.2_Missense_Mutation_p.R149Q	p.R148Q	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN			6	1643	-			0					Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	c.443G>A	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	C	36	5.898251	0.97081	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243;ENST00000492586	T;T;T;T;T;T;T;T;T	0.55052	1.75;0.54;0.54;1.75;0.54;0.54;0.54;1.75;0.54	5.76	5.76	0.90799	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.342455	0.20777	N	0.085864	T	0.70211	0.3198	L	0.52823	1.66	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.996;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.996;0.987;0.998;0.996;0.998	T	0.65668	-0.6112	10	0.38643	T	0.18	-6.2431	19.9574	0.97228	0.0:1.0:0.0:0.0	.	336;149;336;213;148	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	Q	213;148;148;149;336;148;148;149;123	ENSP00000264674:R213Q;ENSP00000376493:R148Q;ENSP00000419770:R148Q;ENSP00000420048:R149Q;ENSP00000417899:R336Q;ENSP00000419995:R148Q;ENSP00000420466:R148Q;ENSP00000394302:R149Q;ENSP00000417506:R123Q	ENSP00000264674:R213Q	R	-	2	0	MECOM	170321663	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.715000	0.92844	0.561000	0.74099	CGG		0.517	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		25	36	0	0	0	0.091800	0	25	36				
POM121L9P	29774	broad.mit.edu	37	22	24659512	24659512	+	RNA	SNP	A	A	G	rs546151905		TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr22:24659512A>G	ENST00000414583.2	+	0	3037					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		TGCCTGGGCCATGGAGCACTC	0.473																																						ENST00000414583.2																			0																																																			0							g.chr22:24659512A>G	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659512A>G								NR_003714.1						0	3037	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.473	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		5	6	0	0	0	0.014758	0	5	6				
SERPINB7	8710	broad.mit.edu	37	18	61449685	61449685	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr18:61449685A>T	ENST00000398019.2	+	2	404	c.79A>T	c.(79-81)Aat>Tat	p.N27Y	SERPINB7_ENST00000546027.1_Missense_Mutation_p.N27Y|SERPINB7_ENST00000336429.2_Missense_Mutation_p.N27Y|SERPINB7_ENST00000540675.1_Missense_Mutation_p.N27Y	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	27					negative regulation of endopeptidase activity (GO:0010951)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				AGGAAATGGAAATGTGTTCTT	0.507																																						ENST00000398019.2																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27						c.(79-81)Aat>Tat		serpin peptidase inhibitor, clade B (ovalbumin), member 7							129.0	102.0	111.0					18																	61449685		2203	4300	6503	SO:0001583	missense	8710				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	g.chr18:61449685A>T	AF027866	CCDS11988.1, CCDS58633.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166396	ENSG00000166396		"""Serine (or cysteine) peptidase inhibitors"""	13902	protein-coding gene	gene with protein product		603357	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 7"""			24172014	Standard	NM_003784		Approved	MEGSIN	uc002ljl.4	O75635	OTTHUMG00000060591	ENST00000398019.2:c.79A>T	18.37:g.61449685A>T	ENSP00000381101:p.Asn27Tyr					SERPINB7_ENST00000540675.1_Missense_Mutation_p.N27Y|SERPINB7_ENST00000336429.2_Missense_Mutation_p.N27Y|SERPINB7_ENST00000546027.1_Missense_Mutation_p.N27Y	p.N27Y	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN			2	404	+		Esophageal squamous(42;0.129)	27					B4DUW8|F5GZC0|Q1ED45|Q3KPG4	Missense_Mutation	SNP	ENST00000398019.2	37	c.79A>T	CCDS11988.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.255430	0.80135	.	.	ENSG00000166396	ENST00000425392;ENST00000336429;ENST00000398019;ENST00000540675;ENST00000447428;ENST00000546027;ENST00000431370	D;D;D;D;D;D;D	0.92495	-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05	5.88	5.88	0.94601	Serpin domain (3);	0.000000	0.56097	D	0.000030	D	0.97804	0.9279	H	0.98833	4.345	0.48087	D	0.99958	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.99113	1.0847	10	0.87932	D	0	.	14.2372	0.65934	1.0:0.0:0.0:0.0	.	27;27	F5GZC0;O75635	.;SPB7_HUMAN	Y	27	ENSP00000397301:N27Y;ENSP00000337212:N27Y;ENSP00000381101:N27Y;ENSP00000444572:N27Y;ENSP00000402362:N27Y;ENSP00000444861:N27Y;ENSP00000393947:N27Y	ENSP00000337212:N27Y	N	+	1	0	SERPINB7	59600665	1.000000	0.71417	0.952000	0.39060	0.905000	0.53344	7.326000	0.79133	2.252000	0.74401	0.402000	0.26972	AAT		0.507	SERPINB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134007.1	NM_003784		34	76	0	0	0	0.064281	0	34	76				
UNC5CL	222643	broad.mit.edu	37	6	41002808	41002808	+	Silent	SNP	G	G	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr6:41002808G>A	ENST00000373164.1	-	1	66	c.6C>T	c.(4-6)tgC>tgT	p.C2C	UNC5CL_ENST00000244565.3_Silent_p.C2C|UNC5CL_ENST00000470102.1_5'Flank			Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	2					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|proteolysis (GO:0006508)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	peptidase activity (GO:0008233)			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					TCTCCTGGGGGCACATTCGCC	0.602																																						ENST00000244565.3																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13						c.(4-6)tgC>tgT		unc-5 homolog C (C. elegans)-like							53.0	48.0	50.0					6																	41002808		2203	4300	6503	SO:0001819	synonymous_variant	222643				signal transduction	cytoplasm|integral to membrane		g.chr6:41002808G>A	BC035284	CCDS4847.1	6p21.1	2013-10-15			ENSG00000124602	ENSG00000124602			21203	protein-coding gene	gene with protein product	"""ZU5 and death domain containing"""					14769797	Standard	NM_173561		Approved	MGC34763, ZUD	uc003opi.3	Q8IV45	OTTHUMG00000014665	ENST00000373164.1:c.6C>T	6.37:g.41002808G>A						UNC5CL_ENST00000373164.1_Silent_p.C2C	p.C2C	NM_173561.2	NP_775832.2	Q8IV45	UN5CL_HUMAN			2	94	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		2					Q5TGU1	Silent	SNP	ENST00000373164.1	37	c.6C>T	CCDS4847.1																																																																																				0.602	UNC5CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040491.1	NM_173561		4	67	0	0	0	0.009096	0	4	67				
EP400	57634	broad.mit.edu	37	12	132466657	132466657	+	Silent	SNP	G	G	T	rs368365311		TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr12:132466657G>T	ENST00000333577.4	+	6	1780	c.1671G>T	c.(1669-1671)ccG>ccT	p.P557P	EP400_ENST00000389561.2_Silent_p.P521P|EP400_ENST00000389562.2_Silent_p.P520P|EP400_ENST00000332482.4_Silent_p.P484P|EP400_ENST00000330386.6_Silent_p.P521P			Q96L91	EP400_HUMAN	E1A binding protein p400	557					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCCCCACGCCGCAGGCCGCGC	0.592																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(1669-1671)ccG>ccT		E1A binding protein p400							114.0	130.0	125.0					12																	132466657		2187	4264	6451	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132466657G>T	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.1671G>T	12.37:g.132466657G>T						EP400_ENST00000330386.6_Silent_p.P521P|EP400_ENST00000389562.2_Silent_p.P520P|EP400_ENST00000332482.4_Silent_p.P484P|EP400_ENST00000389561.2_Silent_p.P521P	p.P557P			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	6	1780	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	557					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.1671G>T																																																																																					0.592	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		100	176	1	0	6.09681e-45	0.048971	7.00598e-45	100	176				
BLK	640	broad.mit.edu	37	8	11414294	11414294	+	Silent	SNP	C	C	T	rs139994406	byFrequency	TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr8:11414294C>T	ENST00000259089.4	+	9	1492	c.900C>T	c.(898-900)taC>taT	p.Y300Y	BLK_ENST00000529894.1_Silent_p.Y229Y|RP11-148O21.3_ENST00000527922.1_RNA|RP11-148O21.2_ENST00000533322.1_RNA|RP11-148O21.4_ENST00000528629.1_RNA	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	BLK proto-oncogene, Src family tyrosine kinase	300	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell receptor signaling pathway (GO:0050853)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of insulin secretion (GO:0032024)	plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.Y300Y(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		TCCGACTCTACGCAGTGGTCA	0.617													C|||	2	0.000399361	0.0	0.0	5008	,	,		16603	0.001		0.0	False		,,,				2504	0.001					ENST00000259089.4																			1	Substitution - coding silent(1)	p.Y300Y(1)	lung(1)	endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27						c.(898-900)taC>taT		B lymphoid tyrosine kinase		C		0,4406		0,0,2203	82.0	67.0	72.0		900	-1.4	1.0	8	dbSNP_134	72	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BLK	NM_001715.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		300/506	11414294	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	640				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:11414294C>T	BC004473	CCDS5982.1	8p23-p22	2014-06-25	2014-06-25		ENSG00000136573	ENSG00000136573		"""SH2 domain containing"""	1057	protein-coding gene	gene with protein product		191305	"""B lymphoid tyrosine kinase"""			7845672	Standard	NM_001715		Approved	MGC10442	uc003wty.3	P51451	OTTHUMG00000090729	ENST00000259089.4:c.900C>T	8.37:g.11414294C>T						BLK_ENST00000529894.1_Silent_p.Y229Y|RP11-148O21.4_ENST00000528629.1_RNA	p.Y300Y	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)	9	1492	+			300			Protein kinase.		Q16291|Q96IN1	Silent	SNP	ENST00000259089.4	37	c.900C>T	CCDS5982.1																																																																																				0.617	BLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207460.1			28	40	0	0	0	0.037714	0	28	40				
LRFN5	145581	broad.mit.edu	37	14	42356700	42356700	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr14:42356700G>A	ENST00000298119.4	+	3	2061	c.872G>A	c.(871-873)cGt>cAt	p.R291H	LRFN5_ENST00000554120.1_Missense_Mutation_p.R291H|LRFN5_ENST00000554171.1_Missense_Mutation_p.R291H	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	291	Ig-like.					integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CTCATTACTCGTCATACACAT	0.488										HNSCC(30;0.082)																												ENST00000554171.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120						c.(871-873)cGt>cAt		leucine rich repeat and fibronectin type III domain containing 5							114.0	110.0	111.0					14																	42356700		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42356700G>A	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.872G>A	14.37:g.42356700G>A	ENSP00000298119:p.Arg291His	HNSCC(30;0.082)				LRFN5_ENST00000298119.4_Missense_Mutation_p.R291H|LRFN5_ENST00000554120.1_Missense_Mutation_p.R291H	p.R291H			Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	5	3304	+			291			Ig-like.		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.872G>A	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.300080	0.60195	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.68331	-0.32;-0.32;-0.32	5.4	5.4	0.78164	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000037	T	0.62368	0.2422	L	0.33339	1.005	0.58432	D	0.999999	B;P	0.45957	0.38;0.869	B;P	0.45794	0.104;0.493	T	0.61277	-0.7095	10	0.35671	T	0.21	.	17.0338	0.86468	0.0:0.0:1.0:0.0	.	291;291	G3V364;Q96NI6	.;LRFN5_HUMAN	H	291	ENSP00000298119:R291H;ENSP00000451897:R291H;ENSP00000451067:R291H	ENSP00000298119:R291H	R	+	2	0	LRFN5	41426450	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	5.791000	0.69045	2.680000	0.91292	0.563000	0.77884	CGT		0.488	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		49	64	0	0	0	0.045515	0	49	64				
GRM3	2913	broad.mit.edu	37	7	86468867	86468867	+	Silent	SNP	G	G	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr7:86468867G>A	ENST00000361669.2	+	4	3136	c.2037G>A	c.(2035-2037)agG>agA	p.R679R	GRM3_ENST00000394720.2_Intron|GRM3_ENST00000546348.1_Silent_p.R271R|GRM3_ENST00000536043.1_Silent_p.R551R|GRM3_ENST00000439827.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	679					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					GCGCTCAGAGGCCAAAATTCA	0.547																																					GBM(52;969 1098 3139 52280)	ENST00000361669.2																			0				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(2035-2037)agG>agA		glutamate receptor, metabotropic 3	Acamprosate(DB00659)|Nicotine(DB00184)						79.0	77.0	78.0					7																	86468867		2203	4300	6503	SO:0001819	synonymous_variant	0				synaptic transmission	integral to plasma membrane		g.chr7:86468867G>A		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.2037G>A	7.37:g.86468867G>A						GRM3_ENST00000536043.1_Silent_p.R551R|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000546348.1_Silent_p.R271R	p.R679R	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN			4	3136	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		679					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Silent	SNP	ENST00000361669.2	37	c.2037G>A	CCDS5600.1																																																																																				0.547	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			4	127	0	0	0	0.009096	0	4	127				
MROH2B	133558	broad.mit.edu	37	5	41058282	41058282	+	Silent	SNP	G	G	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr5:41058282G>A	ENST00000399564.4	-	7	1089	c.639C>T	c.(637-639)caC>caT	p.H213H	MROH2B_ENST00000506092.2_De_novo_Start_OutOfFrame	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	213								p.H213H(2)									CCGTGGGCCCGTGGGCCTTAA	0.502																																						ENST00000506092.2																			2	Substitution - coding silent(2)	p.H213H(2)	breast(2)										maestro heat-like repeat family member 2B							56.0	55.0	55.0					5																	41058282		1914	4132	6046	SO:0001819	synonymous_variant	133558							g.chr5:41058282G>A		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.639C>T	5.37:g.41058282G>A						MROH2B_ENST00000399564.4_Silent_p.H213H								0	44	-								Q68DM1|Q7Z4U4|Q8N7X3	Translation_Start_Site	SNP	ENST00000399564.4	37		CCDS47202.1																																																																																				0.502	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		13	22	0	0	0	0.105934	0	13	22				
ZNF431	170959	broad.mit.edu	37	19	21366713	21366713	+	Missense_Mutation	SNP	G	G	C	rs369263368		TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr19:21366713G>C	ENST00000311048.7	+	5	1751	c.1607G>C	c.(1606-1608)aGa>aCa	p.R536T	ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_3'UTR	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	536					cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						ATTCATACTAGACAGAAACCC	0.323																																						ENST00000311048.7																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1606-1608)aGa>aCa		zinc finger protein 431							67.0	75.0	72.0					19																	21366713		2203	4300	6503	SO:0001583	missense	170959				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21366713G>C	AB075849	CCDS32979.1	19p12	2013-01-08				ENSG00000196705		"""Zinc fingers, C2H2-type"", ""-"""	20809	protein-coding gene	gene with protein product						11853319	Standard	NM_133473		Approved	KIAA1969	uc002npp.2	Q8TF32		ENST00000311048.7:c.1607G>C	19.37:g.21366713G>C	ENSP00000308578:p.Arg536Thr					ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_3'UTR	p.R536T	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN			5	1751	+			536					A8KAK7|Q8IWC4	Missense_Mutation	SNP	ENST00000311048.7	37	c.1607G>C	CCDS32979.1	.	.	.	.	.	.	.	.	.	.	.	7.106	0.575039	0.13623	.	.	ENSG00000196705	ENST00000311048	T	0.00958	5.5	0.421	-0.841	0.10752	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00875	0.0029	N	0.16708	0.43	0.24484	N	0.994336	B	0.12630	0.006	B	0.28849	0.095	T	0.46857	-0.9161	9	0.87932	D	0	.	6.469	0.21997	0.0:0.0:0.7118:0.2882	.	536	Q8TF32	ZN431_HUMAN	T	536	ENSP00000308578:R536T	ENSP00000308578:R536T	R	+	2	0	ZNF431	21158553	0.027000	0.19231	0.024000	0.17045	0.021000	0.10359	0.772000	0.26647	-0.494000	0.06669	-0.493000	0.04662	AGA		0.323	ZNF431-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463943.1	XM_086098		32	78	0	0	0	0.050027	0	32	78				
RP1	6101	broad.mit.edu	37	8	55538303	55538303	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr8:55538303G>A	ENST00000220676.1	+	4	2009	c.1861G>A	c.(1861-1863)Gga>Aga	p.G621R		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	621					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TAATAACTCTGGAACTGACAA	0.373																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(1861-1863)Gga>Aga		retinitis pigmentosa 1 (autosomal dominant)							54.0	57.0	56.0					8																	55538303		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55538303G>A	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.1861G>A	8.37:g.55538303G>A	ENSP00000220676:p.Gly621Arg						p.G621R	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	2009	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	621						Missense_Mutation	SNP	ENST00000220676.1	37	c.1861G>A	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	G	0.050	-1.254185	0.01457	.	.	ENSG00000104237	ENST00000220676	T	0.25749	1.78	5.39	-0.661	0.11417	.	0.700919	0.12948	N	0.426026	T	0.17746	0.0426	L	0.60455	1.87	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.30592	-0.9973	10	0.27082	T	0.32	.	0.1686	0.00111	0.2584:0.1923:0.2613:0.2879	.	621	P56715	RP1_HUMAN	R	621	ENSP00000220676:G621R	ENSP00000220676:G621R	G	+	1	0	RP1	55700856	0.000000	0.05858	0.002000	0.10522	0.049000	0.14656	-0.224000	0.09164	-0.210000	0.10140	-0.216000	0.12614	GGA		0.373	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		24	33	0	0	0	0.083992	0	24	33				
NOTCH4	4855	broad.mit.edu	37	6	32188296	32188296	+	Missense_Mutation	SNP	C	C	T	rs561687277	byFrequency	TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr6:32188296C>T	ENST00000375023.3	-	6	1183	c.1045G>A	c.(1045-1047)Ggc>Agc	p.G349S		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	349	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CAGCTTGTGCCGCCCCAGCCA	0.617													C|||	3	0.000599042	0.0	0.0	5008	,	,		17734	0.0		0.0	False		,,,				2504	0.0031					ENST00000375023.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(1045-1047)Ggc>Agc		notch 4							103.0	101.0	102.0					6																	32188296		1511	2709	4220	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32188296C>T		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.1045G>A	6.37:g.32188296C>T	ENSP00000364163:p.Gly349Ser						p.G349S	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN			6	1183	-			349			EGF-like 8; calcium-binding (Potential).		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.1045G>A	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.645490	0.67358	.	.	ENSG00000204301	ENST00000375023	D	0.99105	-5.43	4.9	2.15	0.27550	EGF-like region, conserved site (2);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.568488	0.15122	N	0.279337	D	0.98979	0.9652	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.99	D	0.98448	1.0590	10	0.87932	D	0	.	8.2311	0.31599	0.0:0.7334:0.0:0.2666	.	349;349	Q6P3V5;Q99466	.;NOTC4_HUMAN	S	349	ENSP00000364163:G349S	ENSP00000364163:G349S	G	-	1	0	NOTCH4	32296274	0.997000	0.39634	0.018000	0.16275	0.777000	0.43975	4.238000	0.58688	0.265000	0.21872	0.491000	0.48974	GGC		0.617	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			44	87	0	0	0	0.042209	0	44	87				
UBE2D4	51619	broad.mit.edu	37	7	43990260	43990260	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr7:43990260A>G	ENST00000222402.3	+	6	456	c.367A>G	c.(367-369)Ata>Gta	p.I123V	UBE2D4_ENST00000394798.4_Missense_Mutation_p.I85V|RP5-1165K10.2_ENST00000454572.1_RNA|POLR2J4_ENST00000427076.1_RNA	NM_015983.3	NP_057067.1	Q9Y2X8	UB2D4_HUMAN	ubiquitin-conjugating enzyme E2D 4 (putative)	123					protein K11-linked ubiquitination (GO:0070979)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)	5						GGTGCCAGAGATAGCACACAC	0.572																																					Esophageal Squamous(27;401 815 16344 30604)	ENST00000222402.2																			0				endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)	5						c.(367-369)Ata>Gta		ubiquitin-conjugating enzyme E2D 4 (putative)							138.0	115.0	123.0					7																	43990260		2203	4300	6503	SO:0001583	missense	51619				protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination		ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr7:43990260A>G	BC004104	CCDS5474.1	7p13	2005-08-11			ENSG00000078967	ENSG00000078967		"""Ubiquitin-conjugating enzymes E2"""	21647	protein-coding gene	gene with protein product						12690205	Standard	NM_015983		Approved	HBUCE1	uc003tja.2	Q9Y2X8	OTTHUMG00000128971	ENST00000222402.3:c.367A>G	7.37:g.43990260A>G	ENSP00000222402:p.Ile123Val					UBE2D4_ENST00000394798.4_Missense_Mutation_p.I85V|POLR2J4_ENST00000427076.1_RNA	p.I123V	NM_015983.3	NP_057067.1	Q9Y2X8	UB2D4_HUMAN			6	456	+			123					A4D1V0	Missense_Mutation	SNP	ENST00000222402.3	37	c.367A>G	CCDS5474.1	.	.	.	.	.	.	.	.	.	.	A	11.99	1.802864	0.31869	.	.	ENSG00000078967	ENST00000222402;ENST00000394798	T;T	0.71698	-0.59;-0.59	4.49	2.09	0.27110	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.56659	0.2000	L	0.34521	1.04	0.80722	D	1	B;B	0.15141	0.012;0.012	B;B	0.23018	0.035;0.043	T	0.49113	-0.8973	10	0.62326	D	0.03	.	7.3079	0.26457	0.8091:0.0:0.1909:0.0	.	85;123	Q9UQL0;Q9Y2X8	.;UB2D4_HUMAN	V	123;85	ENSP00000222402:I123V;ENSP00000378277:I85V	ENSP00000222402:I123V	I	+	1	0	UBE2D4	43956785	1.000000	0.71417	0.997000	0.53966	0.516000	0.34256	5.408000	0.66368	0.142000	0.18901	-0.274000	0.10170	ATA		0.572	UBE2D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250958.2	NM_015983		21	72	0	0	0	0.062417	0	21	72				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			0							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			4	55	0	0	0	0.009096	0	4	55				
LMTK3	114783	broad.mit.edu	37	19	49000820	49000820	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr19:49000820C>T	ENST00000600059.1	-	11	3733	c.3506G>A	c.(3505-3507)aGg>aAg	p.R1169K	LMTK3_ENST00000270238.3_Missense_Mutation_p.R1198K			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	1169	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CACCTCCGGCCTGGCTCTCGG	0.761																																						ENST00000600059.1																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16						c.(3505-3507)aGg>aAg		lemur tyrosine kinase 3							5.0	7.0	6.0					19																	49000820		1734	3821	5555	SO:0001583	missense	114783							g.chr19:49000820C>T	AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 101"""						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.3506G>A	19.37:g.49000820C>T	ENSP00000472020:p.Arg1169Lys					LMTK3_ENST00000270238.3_Missense_Mutation_p.R1198K	p.R1169K						OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)	11	3733	-		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)						Q4G0U1	Missense_Mutation	SNP	ENST00000600059.1	37	c.3506G>A		.	.	.	.	.	.	.	.	.	.	C	15.26	2.781352	0.49891	.	.	ENSG00000142235	ENST00000270238	T	0.76839	-1.05	3.14	2.06	0.26882	.	0.457369	0.19608	N	0.110218	T	0.60483	0.2272	N	0.19112	0.55	0.22787	N	0.99873	B	0.22080	0.064	B	0.15052	0.012	T	0.52320	-0.8591	10	0.42905	T	0.14	.	8.9101	0.35548	0.0:0.8807:0.0:0.1193	.	1169	Q96Q04	LMTK3_HUMAN	K	1198	ENSP00000270238:R1198K	ENSP00000270238:R1198K	R	-	2	0	LMTK3	53692632	1.000000	0.71417	0.999000	0.59377	0.822000	0.46500	0.558000	0.23469	0.868000	0.35678	0.462000	0.41574	AGG		0.761	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1	NM_052895		5	19	0	0	0	0.021553	0	5	19				
FLG2	388698	broad.mit.edu	37	1	152328212	152328212	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr1:152328212G>A	ENST00000388718.5	-	3	2122	c.2050C>T	c.(2050-2052)Cat>Tat	p.H684Y	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	684	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTAGACTCATGTTGTCCAAAA	0.473																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(2050-2052)Cat>Tat		filaggrin family member 2							302.0	302.0	302.0					1																	152328212		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152328212G>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2050C>T	1.37:g.152328212G>A	ENSP00000373370:p.His684Tyr					FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.H684Y	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2122	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		684			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.2050C>T	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	g	9.322	1.058233	0.19987	.	.	ENSG00000143520	ENST00000388718	T	0.05081	3.5	3.94	-2.66	0.06077	.	.	.	.	.	T	0.01287	0.0042	L	0.60455	1.87	0.09310	N	1	B	0.19331	0.035	B	0.12156	0.007	T	0.48969	-0.8987	9	0.10902	T	0.67	-5.1082	1.4152	0.02300	0.1788:0.138:0.4012:0.282	.	684	Q5D862	FILA2_HUMAN	Y	684	ENSP00000373370:H684Y	ENSP00000373370:H684Y	H	-	1	0	FLG2	150594836	0.690000	0.27699	0.000000	0.03702	0.053000	0.15095	0.618000	0.24373	-0.509000	0.06532	0.491000	0.48974	CAT		0.473	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		206	326	0	0	0	0.048971	0	206	326				
WNT11	7481	broad.mit.edu	37	11	75898143	75898143	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr11:75898143C>A	ENST00000322563.3	-	5	1155	c.1031G>T	c.(1030-1032)tGt>tTt	p.C344F		NM_004626.2	NP_004617.2	O96014	WNT11_HUMAN	wingless-type MMTV integration site family, member 11	344					adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|bone mineralization (GO:0030282)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|cloacal septation (GO:0060197)|embryonic skeletal system development (GO:0048706)|lung-associated mesenchyme development (GO:0060484)|mesonephric duct development (GO:0072177)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of fibroblast growth factor production (GO:0090272)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of transcription, DNA-templated (GO:0045892)|neuroendocrine cell differentiation (GO:0061101)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway (GO:0035567)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta2 production (GO:0032915)|protein localization to cell surface (GO:0034394)|protein phosphorylation (GO:0006468)|response to nutrient levels (GO:0031667)|tight junction assembly (GO:0070830)|ureteric bud morphogenesis (GO:0060675)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|protein kinase activator activity (GO:0030295)|Ras GTPase activator activity (GO:0005099)|transcription regulatory region DNA binding (GO:0044212)	p.C344Y(2)		breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						GGTACGCTCACACCTGCGGCA	0.642																																						ENST00000322563.3																			2	Substitution - Missense(2)	p.C344Y(2)	ovary(2)	breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						c.(1030-1032)tGt>tTt		wingless-type MMTV integration site family, member 11							123.0	90.0	101.0					11																	75898143		2200	4292	6492	SO:0001583	missense	7481				adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|protein kinase activator activity|Ras GTPase activator activity|transcription regulatory region DNA binding	g.chr11:75898143C>A	Y12692	CCDS8242.1	11q13.5	2008-02-05			ENSG00000085741	ENSG00000085741		"""Wingless-type MMTV integration sites"""	12776	protein-coding gene	gene with protein product		603699				9757009	Standard	NM_004626		Approved		uc001oxe.3	O96014	OTTHUMG00000165264	ENST00000322563.3:c.1031G>T	11.37:g.75898143C>A	ENSP00000325526:p.Cys344Phe						p.C344F	NM_004626.2	NP_004617.2	O96014	WNT11_HUMAN			5	1155	-			344					B2R8Z6|Q14DE8|Q8WZ98	Missense_Mutation	SNP	ENST00000322563.3	37	c.1031G>T	CCDS8242.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.307408	0.81247	.	.	ENSG00000085741	ENST00000322563	D	0.84070	-1.8	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	D	0.94443	0.8212	H	0.97682	4.055	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96386	0.9285	10	0.87932	D	0	.	17.3486	0.87316	0.0:1.0:0.0:0.0	.	344	O96014	WNT11_HUMAN	F	344	ENSP00000325526:C344F	ENSP00000325526:C344F	C	-	2	0	WNT11	75575791	1.000000	0.71417	0.898000	0.35279	0.925000	0.55904	7.705000	0.84606	2.515000	0.84797	0.305000	0.20034	TGT		0.642	WNT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383083.1	NM_004626		33	38	1	0	1.62565e-12	0.050027	1.83586e-12	33	38				
CANT1	124583	broad.mit.edu	37	17	76991223	76991223	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr17:76991223C>T	ENST00000302345.2	-	3	1206	c.712G>A	c.(712-714)Ggt>Agt	p.G238S	CANT1_ENST00000591773.1_Missense_Mutation_p.G238S|CANT1_ENST00000392446.5_Missense_Mutation_p.G238S	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	238					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|proteoglycan biosynthetic process (GO:0030166)|signal transduction (GO:0007165)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|signal transducer activity (GO:0004871)|uridine-diphosphatase activity (GO:0045134)		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			ACCACATCACCCGTAGTGGTC	0.627			T	ETV4	prostate																																	ENST00000302345.2				Dom	yes		17	17q25	124583	T	calcium activated nucleotidase 1			E	ETV4		prostate	CANT1/ETV4(3)	0				cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16						c.(712-714)Ggt>Agt		calcium activated nucleotidase 1							97.0	76.0	83.0					17																	76991223		2203	4300	6503	SO:0001583	missense	124583				positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity	g.chr17:76991223C>T	AJ312208	CCDS11760.1	17q25.3	2008-02-05	2004-10-12	2004-10-15		ENSG00000171302			19721	protein-coding gene	gene with protein product	"""Soluble Ca-Activated Nucleotidase, isozyme 1"""	613165				12167635	Standard	NM_138793		Approved	SHAPY, SCAN-1	uc002jwk.3	Q8WVQ1		ENST00000302345.2:c.712G>A	17.37:g.76991223C>T	ENSP00000307674:p.Gly238Ser					CANT1_ENST00000591773.1_Missense_Mutation_p.G238S|CANT1_ENST00000392446.5_Missense_Mutation_p.G238S	p.G238S	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)		3	1206	-			238					B4DJ54|Q7Z2J7|Q8NG05|Q8NHP0|Q9BSD5	Missense_Mutation	SNP	ENST00000302345.2	37	c.712G>A	CCDS11760.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.307080	0.81247	.	.	ENSG00000171302	ENST00000302345;ENST00000392446;ENST00000339300	D;D	0.88896	-2.44;-2.44	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	D	0.95354	0.8492	M	0.90082	3.085	0.80722	D	1	D	0.71674	0.998	D	0.72982	0.979	D	0.96543	0.9402	10	0.87932	D	0	-13.6956	17.251	0.87042	0.0:1.0:0.0:0.0	.	238	Q8WVQ1	CANT1_HUMAN	S	238;238;187	ENSP00000307674:G238S;ENSP00000376241:G238S	ENSP00000307674:G238S	G	-	1	0	CANT1	74502818	1.000000	0.71417	0.260000	0.24451	0.379000	0.30106	7.260000	0.78391	2.045000	0.60652	0.462000	0.41574	GGT		0.627	CANT1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437723.2	NM_138793		18	24	0	0	0	0.033300	0	18	24				
GPR27	2850	broad.mit.edu	37	3	71803791	71803791	+	Silent	SNP	G	G	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr3:71803791G>T	ENST00000304411.2	+	1	591	c.591G>T	c.(589-591)acG>acT	p.T197T	EIF4E3_ENST00000421769.2_Intron|EIF4E3_ENST00000448225.1_5'Flank|EIF4E3_ENST00000295612.3_5'Flank	NM_018971.1	NP_061844.1	Q9NS67	GPR27_HUMAN	G protein-coupled receptor 27	197					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			kidney(1)|lung(2)|ovary(1)|prostate(1)	5		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		TGGGCGCCACGCACCTCGTCT	0.746																																						ENST00000304411.2																			0				kidney(1)|lung(2)|ovary(1)|prostate(1)	5						c.(589-591)acG>acT		G protein-coupled receptor 27							4.0	5.0	4.0					3																	71803791		1449	2852	4301	SO:0001819	synonymous_variant	2850					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:71803791G>T	AB040799	CCDS2915.1	3p21-p14	2012-08-21			ENSG00000170837	ENSG00000170837		"""GPCR / Class A : Orphans"""	4482	protein-coding gene	gene with protein product		605187				10833454	Standard	NM_018971		Approved	SREB1	uc011bge.2	Q9NS67	OTTHUMG00000158810	ENST00000304411.2:c.591G>T	3.37:g.71803791G>T						EIF4E3_ENST00000421769.2_Intron	p.T197T	NM_018971.1	NP_061844.1	Q9NS67	GPR27_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)	1	591	+		Prostate(10;0.00899)	197						Silent	SNP	ENST00000304411.2	37	c.591G>T	CCDS2915.1																																																																																				0.746	GPR27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352303.1	NM_018971		4	3	1	0	2.56e-06	0.009096	2.84203e-06	4	3				
RNASEL	6041	broad.mit.edu	37	1	182544690	182544690	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr1:182544690G>A	ENST00000367559.3	-	7	2316	c.2063C>T	c.(2062-2064)cCt>cTt	p.P688L	RNASEL_ENST00000444138.1_Missense_Mutation_p.P688L	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	688	KEN. {ECO:0000255|PROSITE- ProRule:PRU00725}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mRNA processing (GO:0006397)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						ATACAGGGAAGGGTCTCCAAT	0.398																																						ENST00000367559.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						c.(2062-2064)cCt>cTt		ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)							87.0	83.0	84.0					1																	182544690		2203	4300	6503	SO:0001583	missense	6041				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding	g.chr1:182544690G>A	L10381	CCDS1347.1	1q25	2013-01-10			ENSG00000135828	ENSG00000135828	3.1.26.-	"""Ankyrin repeat domain containing"""	10050	protein-coding gene	gene with protein product		180435	"""prostate cancer 1"""	RNS4, PRCA1		7514564	Standard	NM_021133		Approved		uc009wxz.2	Q05823	OTTHUMG00000035213	ENST00000367559.3:c.2063C>T	1.37:g.182544690G>A	ENSP00000356530:p.Pro688Leu					RNASEL_ENST00000444138.1_Missense_Mutation_p.P688L	p.P688L	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN			7	2316	-			688			KEN.		Q5W0L2|Q6AI46	Missense_Mutation	SNP	ENST00000367559.3	37	c.2063C>T	CCDS1347.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.115133	0.56505	.	.	ENSG00000135828	ENST00000367559;ENST00000444138	T;T	0.52057	0.68;0.68	4.96	4.96	0.65561	PUG domain (1);KEN domain, ribonuclease activator (2);	0.265594	0.28176	N	0.016314	T	0.65984	0.2744	M	0.79123	2.44	0.47094	D	0.999312	D	0.76494	0.999	D	0.77557	0.99	T	0.64871	-0.6305	10	0.34782	T	0.22	-20.4028	11.2781	0.49178	0.0:0.0:0.818:0.182	.	688	Q05823	RN5A_HUMAN	L	688	ENSP00000356530:P688L;ENSP00000411147:P688L	ENSP00000356530:P688L	P	-	2	0	RNASEL	180811313	0.959000	0.32827	0.415000	0.26534	0.066000	0.16364	3.249000	0.51437	2.449000	0.82847	0.655000	0.94253	CCT		0.398	RNASEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085189.1	NM_021133		25	40	0	0	0	0.034045	0	25	40				
VEPH1	79674	broad.mit.edu	37	3	156978935	156978935	+	Silent	SNP	G	G	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr3:156978935G>A	ENST00000362010.2	-	14	2797	c.2490C>T	c.(2488-2490)acC>acT	p.T830T	RP11-550I24.2_ENST00000487238.1_RNA|RP11-550I24.2_ENST00000488040.1_RNA|VEPH1_ENST00000543418.1_Silent_p.T785T|VEPH1_ENST00000392833.2_Silent_p.T785T|RP11-550I24.2_ENST00000475102.1_RNA|VEPH1_ENST00000392832.2_Silent_p.T830T	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	830						plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			ACAGATATGTGGTTACTTCTC	0.408																																						ENST00000362010.2																			0				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(2488-2490)acC>acT		ventricular zone expressed PH domain-containing 1							153.0	143.0	146.0					3																	156978935		2203	4300	6503	SO:0001819	synonymous_variant	79674					plasma membrane		g.chr3:156978935G>A	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.2490C>T	3.37:g.156978935G>A						RP11-550I24.2_ENST00000487238.1_RNA|RP11-550I24.2_ENST00000488040.1_RNA|RP11-550I24.2_ENST00000475102.1_RNA|VEPH1_ENST00000543418.1_Silent_p.T785T|VEPH1_ENST00000392832.2_Silent_p.T830T|VEPH1_ENST00000392833.2_Silent_p.T785T	p.T830T	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		14	2797	-			830					D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Silent	SNP	ENST00000362010.2	37	c.2490C>T	CCDS3179.1																																																																																				0.408	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621		44	72	0	0	0	0.048971	0	44	72				
FAM64A	54478	broad.mit.edu	37	17	6348675	6348675	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr17:6348675T>C	ENST00000250056.8	+	2	328	c.245T>C	c.(244-246)cTc>cCc	p.L82P	FAM64A_ENST00000572595.2_Missense_Mutation_p.L82P|FAM64A_ENST00000576056.1_Missense_Mutation_p.L82P|FAM64A_ENST00000572447.1_Missense_Mutation_p.L82P|FAM64A_ENST00000570337.2_Missense_Mutation_p.L82P|FAM64A_ENST00000571373.1_Missense_Mutation_p.L82P	NM_001195228.1	NP_001182157.1	Q9BSJ6	FA64A_HUMAN	family with sequence similarity 64, member A	82					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				COAD - Colon adenocarcinoma(228;0.141)		CAGCAGGGCCTCCAGGCTGCA	0.577																																						ENST00000572447.1																			0				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						c.(244-246)cTc>cCc		family with sequence similarity 64, member A							49.0	55.0	53.0					17																	6348675		2203	4300	6503	SO:0001583	missense	54478					nucleolus	protein binding	g.chr17:6348675T>C		CCDS32541.1, CCDS56016.1	17p13.2	2013-10-11			ENSG00000129195	ENSG00000129195			25483	protein-coding gene	gene with protein product	"""CALM interacting protein expressed in thymus and spleen"""					19383357, 16491119	Standard	NM_019013		Approved	FLJ10156, FLJ10491, CATS	uc002gcw.2	Q9BSJ6	OTTHUMG00000177832	ENST00000250056.8:c.245T>C	17.37:g.6348675T>C	ENSP00000250056:p.Leu82Pro					FAM64A_ENST00000572595.2_Missense_Mutation_p.L82P|FAM64A_ENST00000571373.1_Missense_Mutation_p.L82P|FAM64A_ENST00000570337.2_Missense_Mutation_p.L82P|FAM64A_ENST00000250056.8_Missense_Mutation_p.L82P|FAM64A_ENST00000576056.1_Missense_Mutation_p.L82P	p.L82P	NM_019013.2	NP_061886.2	Q9BSJ6	FA64A_HUMAN		COAD - Colon adenocarcinoma(228;0.141)	2	354	+			82					Q96CT4|Q9NVV1|Q9NWB5	Missense_Mutation	SNP	ENST00000250056.8	37	c.245T>C	CCDS56016.1	.	.	.	.	.	.	.	.	.	.	T	16.23	3.065814	0.55539	.	.	ENSG00000129195	ENST00000250056;ENST00000308855	T	0.59772	0.24	5.08	5.08	0.68730	.	0.201657	0.33792	N	0.004555	T	0.73466	0.3590	M	0.73598	2.24	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.982	T	0.76756	-0.2842	10	0.87932	D	0	-20.1268	11.1694	0.48563	0.0:0.0:0.0:1.0	.	82;82	Q9BSJ6;Q9BSJ6-2	FA64A_HUMAN;.	P	82	ENSP00000250056:L82P	ENSP00000250056:L82P	L	+	2	0	FAM64A	6289399	0.973000	0.33851	1.000000	0.80357	0.353000	0.29299	2.341000	0.43983	2.143000	0.66587	0.533000	0.62120	CTC		0.577	FAM64A-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000439156.1	NM_019013		40	43	0	0	0	0.048971	0	40	43				
IL4I1	259307	broad.mit.edu	37	19	50393077	50393077	+	Silent	SNP	C	C	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr19:50393077C>T	ENST00000391826.2	-	8	1696	c.1554G>A	c.(1552-1554)gaG>gaA	p.E518E	IL4I1_ENST00000341114.3_Silent_p.E540E|IL4I1_ENST00000595948.1_Silent_p.E540E|MIR4750_ENST00000584564.1_RNA	NM_152899.1	NP_690863.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	518						extracellular region (GO:0005576)|lysosome (GO:0005764)	L-amino-acid oxidase activity (GO:0001716)	p.E540E(1)		endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)	Flavin adenine dinucleotide(DB03147)	ATGCGTGCCCCTCGGGGCTGG	0.687																																						ENST00000595948.1																			1	Substitution - coding silent(1)	p.E540E(1)	upper_aerodigestive_tract(1)	endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(1618-1620)gaG>gaA		interleukin 4 induced 1							52.0	52.0	52.0					19																	50393077		2202	4300	6502	SO:0001819	synonymous_variant	259307					lysosome	L-amino-acid oxidase activity	g.chr19:50393077C>T	AF293462	CCDS12786.1, CCDS12787.1	19q13.3-q13.4	2014-06-26				ENSG00000104951			19094	protein-coding gene	gene with protein product		609742				12031486	Standard	NM_152899		Approved	FIG1	uc002pqt.1	Q96RQ9		ENST00000391826.2:c.1554G>A	19.37:g.50393077C>T						IL4I1_ENST00000341114.3_Silent_p.E540E|IL4I1_ENST00000391826.2_Silent_p.E518E	p.E540E	NM_001258018.1	NP_001244947.1	Q96RQ9	OXLA_HUMAN		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)	10	2240	-		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)	518					Q1WMJ3|Q4GZN1|Q4GZN2|Q6P2Q3|Q8TEM5|Q96RQ8	Silent	SNP	ENST00000391826.2	37	c.1620G>A	CCDS12787.1																																																																																				0.687	IL4I1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466413.1			19	49	0	0	0	0.055883	0	19	49				
BTN2A1	11120	broad.mit.edu	37	6	26463544	26463544	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr6:26463544G>A	ENST00000312541.5	+	4	751	c.503G>A	c.(502-504)aGa>aAa	p.R168K	BTN2A1_ENST00000541522.1_Missense_Mutation_p.R107K|BTN2A1_ENST00000429381.1_Missense_Mutation_p.R168K|BTN2A1_ENST00000469185.1_Missense_Mutation_p.R168K	NM_007049.3|NM_078476.2	NP_008980.1|NP_510961.1	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	168					lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						TGCATATCTAGAGGGTGGTAC	0.587																																						ENST00000429381.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						c.(502-504)aGa>aAa		butyrophilin, subfamily 2, member A1							76.0	73.0	74.0					6																	26463544		2203	4300	6503	SO:0001583	missense	11120				lipid metabolic process	integral to plasma membrane		g.chr6:26463544G>A	U90543	CCDS4613.1, CCDS47390.1, CCDS56404.1, CCDS56405.1	6p22.1	2014-01-14			ENSG00000112763	ENSG00000112763		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1136	protein-coding gene	gene with protein product		613590				9382921, 9149941	Standard	NM_007049		Approved	BT2.1, BTF1, BTN2.1	uc003nib.2	Q7KYR7	OTTHUMG00000014457	ENST00000312541.5:c.503G>A	6.37:g.26463544G>A	ENSP00000312158:p.Arg168Lys					BTN2A1_ENST00000469185.1_Missense_Mutation_p.R168K|BTN2A1_ENST00000541522.1_Missense_Mutation_p.R107K|BTN2A1_ENST00000312541.5_Missense_Mutation_p.R168K	p.R168K			Q7KYR7	BT2A1_HUMAN			4	715	+			168					B4DLP9|E9PGR4|O00475|P78408|Q59EN4|Q7KYQ7|Q7Z386|Q96AV7|Q9NU62	Missense_Mutation	SNP	ENST00000312541.5	37	c.503G>A	CCDS4613.1	.	.	.	.	.	.	.	.	.	.	G	0.390	-0.923758	0.02377	.	.	ENSG00000112763	ENST00000312541;ENST00000541522;ENST00000429381;ENST00000265424;ENST00000469185	T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02	2.88	-5.7	0.02421	CD80-like, immunoglobulin C2-set (1);	1.998480	0.02218	N	0.063769	T	0.30008	0.0751	L	0.27975	0.815	0.09310	N	1	B;B	0.28933	0.228;0.074	B;B	0.30251	0.113;0.08	T	0.38415	-0.9662	10	0.06757	T	0.87	.	1.5067	0.02488	0.3532:0.3491:0.1457:0.1521	.	168;168	Q96AV7;Q7KYR7	.;BT2A1_HUMAN	K	168;107;168;168;168	ENSP00000312158:R168K;ENSP00000443909:R107K;ENSP00000416945:R168K;ENSP00000419043:R168K	ENSP00000265424:R168K	R	+	2	0	BTN2A1	26571523	0.000000	0.05858	0.087000	0.20705	0.499000	0.33736	-5.471000	0.00120	-1.550000	0.01708	0.561000	0.74099	AGA		0.587	BTN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040122.2	NM_007049		49	72	0	0	0	0.048971	0	49	72				
SHANK1	50944	broad.mit.edu	37	19	51175329	51175329	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr19:51175329G>A	ENST00000293441.1	-	21	2638	c.2620C>T	c.(2620-2622)Cgt>Tgt	p.R874C	SHANK1_ENST00000391814.1_Missense_Mutation_p.R882C|SHANK1_ENST00000359082.3_Missense_Mutation_p.R865C|SHANK1_ENST00000391813.1_Missense_Mutation_p.R261C	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	874					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)	p.R874C(1)		breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		AAAGAAGGACGCTCGTAACTT	0.577																																						ENST00000293441.1																			1	Substitution - Missense(1)	p.R874C(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(2620-2622)Cgt>Tgt		SH3 and multiple ankyrin repeat domains 1							92.0	78.0	83.0					19																	51175329		2203	4300	6503	SO:0001583	missense	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51175329G>A	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.2620C>T	19.37:g.51175329G>A	ENSP00000293441:p.Arg874Cys					SHANK1_ENST00000391814.1_Missense_Mutation_p.R882C|SHANK1_ENST00000359082.3_Missense_Mutation_p.R865C|SHANK1_ENST00000391813.1_Missense_Mutation_p.R261C	p.R874C	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	21	2638	-		all_neural(266;0.057)	874					A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	c.2620C>T	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.770050	0.49680	.	.	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	T;T;T;T	0.40756	1.14;1.57;1.13;1.02	3.87	3.87	0.44632	.	1.801580	0.03745	U	0.255586	T	0.63010	0.2475	L	0.58810	1.83	0.51482	D	0.999927	D;D	0.89917	1.0;0.999	P;D	0.70016	0.895;0.967	T	0.51513	-0.8696	10	0.87932	D	0	-7.4446	10.5052	0.44830	0.0:0.0:0.8056:0.1944	.	874;261	Q9Y566;Q9Y566-2	SHAN1_HUMAN;.	C	874;261;865;882	ENSP00000293441:R874C;ENSP00000375689:R261C;ENSP00000351984:R865C;ENSP00000375690:R882C	ENSP00000293441:R874C	R	-	1	0	SHANK1	55867141	1.000000	0.71417	0.945000	0.38365	0.992000	0.81027	3.678000	0.54627	2.161000	0.67846	0.491000	0.48974	CGT		0.577	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		15	36	0	0	0	0.038395	0	15	36				
ELTD1	64123	broad.mit.edu	37	1	79392754	79392754	+	Silent	SNP	T	T	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr1:79392754T>A	ENST00000370742.3	-	8	963	c.900A>T	c.(898-900)gtA>gtT	p.V300V		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	300			V -> L (in dbSNP:rs12754818). {ECO:0000269|PubMed:11050079, ECO:0000269|PubMed:12975309, ECO:0000269|PubMed:15489334}.		G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TCTTATAATATACAAATGCAA	0.274																																						ENST00000370742.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69						c.(898-900)gtA>gtT		EGF, latrophilin and seven transmembrane domain containing 1							56.0	52.0	53.0					1																	79392754		1795	4071	5866	SO:0001819	synonymous_variant	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79392754T>A	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.900A>T	1.37:g.79392754T>A							p.V300V	NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	8	963	-			300		V -> L (in dbSNP:rs12754818).			B1AR71|Q5KU34	Silent	SNP	ENST00000370742.3	37	c.900A>T	CCDS41352.1																																																																																				0.274	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		24	44	0	0	0	0.083992	0	24	44				
TXLNGY	246126	broad.mit.edu	37	Y	21759464	21759464	+	RNA	SNP	A	A	G			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chrY:21759464A>G	ENST00000253320.4	+	0	4545																				haematopoietic_and_lymphoid_tissue(1)	1						GTCAGAATGTATCTGTTTTCT	0.338																																						ENST00000253320.4																			0				haematopoietic_and_lymphoid_tissue(1)	1															157.0	143.0	146.0					Y																	21759464		180	797	977			0							g.chrY:21759464A>G																													Y.37:g.21759464A>G										Q9BZA5	CY15A_HUMAN			0	4545	+									RNA	SNP	ENST00000253320.4	37																																																																																						0.338	TXLNG2P-012	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000088781.1			9	1	0	0	0	0.047766	0	9	1				
COL6A3	1293	broad.mit.edu	37	2	238303658	238303658	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr2:238303658T>C	ENST00000295550.4	-	3	733	c.281A>G	c.(280-282)aAt>aGt	p.N94S	COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000392004.3_Intron|COL6A3_ENST00000347401.3_Missense_Mutation_p.N94S|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000353578.4_Intron|COL6A3_ENST00000346358.4_Missense_Mutation_p.N94S|COL6A3_ENST00000409809.1_Intron	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	94	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACGATACGTATTTAACAGGAA	0.368																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(280-282)aAt>aGt		collagen, type VI, alpha 3							85.0	88.0	87.0					2																	238303658		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238303658T>C	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.281A>G	2.37:g.238303658T>C	ENSP00000295550:p.Asn94Ser					COL6A3_ENST00000392004.3_Intron|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000347401.3_Missense_Mutation_p.N94S|COL6A3_ENST00000346358.4_Missense_Mutation_p.N94S|COL6A3_ENST00000353578.4_Intron|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000409809.1_Intron	p.N94S	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	3	733	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	94			Nonhelical region.|VWFA 1.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.281A>G	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	T	10.36	1.329277	0.24167	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000346358;ENST00000433762	D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81	4.67	3.52	0.40303	von Willebrand factor, type A (3);	0.000000	0.48286	U	0.000193	T	0.79161	0.4399	L	0.55834	1.745	0.19775	N	0.999957	B;B	0.28233	0.126;0.204	B;B	0.30105	0.111;0.111	T	0.61242	-0.7102	10	0.12103	T	0.63	.	9.9952	0.41896	0.0:0.0806:0.0:0.9194	.	94;94	E9PCV6;P12111	.;CO6A3_HUMAN	S	94	ENSP00000295550:N94S;ENSP00000315609:N94S;ENSP00000295546:N94S;ENSP00000389539:N94S	ENSP00000295550:N94S	N	-	2	0	COL6A3	237968397	1.000000	0.71417	0.936000	0.37596	0.971000	0.66376	4.863000	0.62983	0.642000	0.30620	0.374000	0.22700	AAT		0.368	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		36	49	0	0	0	0.069456	0	36	49				
PTEN	5728	broad.mit.edu	37	10	89624305	89624305	+	Splice_Site	SNP	T	T	G			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr10:89624305T>G	ENST00000371953.3	+	1	1436	c.79T>G	c.(79-81)Tat>Gat	p.Y27D	KLLN_ENST00000445946.3_5'Flank	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	27	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		Y -> S (loss of phosphatase activity towards Ins(1,3,4,5)P4).		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.?(13)|p.Y27D(2)|p.Y27N(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		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)		AGACTTGACCTGTATCCATTT	0.463		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"""		53	Whole gene deletion(37)|Unknown(13)|Substitution - Missense(3)	p.0?(37)|p.?(13)|p.Y27D(2)|p.Y27N(1)	prostate(14)|central_nervous_system(10)|skin(7)|lung(6)|ovary(3)|breast(3)|haematopoietic_and_lymphoid_tissue(2)|bone(2)|biliary_tract(1)|stomach(1)|soft_tissue(1)|endometrium(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.e1+1		phosphatase and tensin homolog							155.0	148.0	150.0					10																	89624305		2203	4300	6503	SO:0001630	splice_region_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.chr10:89624305T>G	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.79+1T>G	10.37:g.89624305T>G		HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.Y27_splice	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)	1	1436	+		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)	27		Y -> S (loss of phosphatase activity towards Ins(1,3,4,5)P4).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Splice_Site	SNP	ENST00000371953.3	37	c.79_splice	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	T	16.98	3.270894	0.59540	.	.	ENSG00000171862	ENST00000371953	D	0.98777	-5.13	5.28	5.28	0.74379	Phosphatase tensin type (1);	0.071107	0.64402	N	0.000018	D	0.98469	0.9490	H	0.94264	3.515	0.80722	D	1	B	0.10296	0.003	B	0.12156	0.007	D	0.98510	1.0618	9	.	.	.	-0.7134	14.1807	0.65572	0.0:0.0:0.0:1.0	.	27	P60484	PTEN_HUMAN	D	27	ENSP00000361021:Y27D	.	Y	+	1	0	PTEN	89614285	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.216000	0.77974	1.996000	0.58369	0.459000	0.35465	TAT		0.463	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	Missense_Mutation	42	25	0	0	0	0.104719	0	42	25				
LRRTM4	80059	broad.mit.edu	37	2	77746149	77746149	+	Silent	SNP	C	C	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr2:77746149C>T	ENST00000409093.1	-	3	1182	c.846G>A	c.(844-846)ttG>ttA	p.L282L	LRRTM4_ENST00000409884.1_Silent_p.L282L|LRRTM4_ENST00000409088.3_Silent_p.L282L|LRRTM4_ENST00000409911.1_Silent_p.L283L|LRRTM4_ENST00000409282.1_Silent_p.L283L			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	282					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)		p.L282F(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		AATCCAAATTCAATTTTTGTA	0.398																																						ENST00000409088.3																			2	Substitution - Missense(2)	p.L282F(2)	lung(2)	autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64						c.(844-846)ttG>ttA		leucine rich repeat transmembrane neuronal 4							52.0	48.0	49.0					2																	77746149		1851	4101	5952	SO:0001819	synonymous_variant	80059					integral to membrane		g.chr2:77746149C>T	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.846G>A	2.37:g.77746149C>T						LRRTM4_ENST00000409911.1_Silent_p.L283L|LRRTM4_ENST00000409282.1_Silent_p.L283L|LRRTM4_ENST00000409093.1_Silent_p.L282L|LRRTM4_ENST00000409884.1_Silent_p.L282L	p.L282L	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	1260	-			282					Q4FZ98|Q6UXJ7	Silent	SNP	ENST00000409093.1	37	c.846G>A	CCDS46346.1																																																																																				0.398	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		15	12	0	0	0	0.020292	0	15	12				
MYOF	26509	broad.mit.edu	37	10	95070355	95070355	+	Missense_Mutation	SNP	C	C	T	rs180931942		TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr10:95070355C>T	ENST00000359263.4	-	52	5934	c.5935G>A	c.(5935-5937)Gac>Aac	p.D1979N	MYOF_ENST00000371502.4_Missense_Mutation_p.D1969N|MYOF_ENST00000358334.5_Missense_Mutation_p.D1966N|MYOF_ENST00000371501.4_Missense_Mutation_p.D1979N	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1979					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GGCCTCTCGTCGGCCTCCTTC	0.493													C|||	1	0.000199681	0.0	0.0	5008	,	,		17868	0.001		0.0	False		,,,				2504	0.0					ENST00000371501.4																			0				NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(5935-5937)Gac>Aac		myoferlin							119.0	121.0	120.0					10																	95070355		1908	4112	6020	SO:0001583	missense	26509				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95070355C>T	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.5935G>A	10.37:g.95070355C>T	ENSP00000352208:p.Asp1979Asn					MYOF_ENST00000358334.5_Missense_Mutation_p.D1966N|MYOF_ENST00000371502.4_Missense_Mutation_p.D1969N|MYOF_ENST00000359263.4_Missense_Mutation_p.D1979N	p.D1979N			Q9NZM1	MYOF_HUMAN			52	6057	-			1979					B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	ENST00000359263.4	37	c.5935G>A	CCDS41551.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	27.2	4.813447	0.90790	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	D;D;D;D	0.83419	-1.72;-1.72;-1.71;-1.7	5.17	5.17	0.71159	.	0.139658	0.64402	D	0.000005	D	0.83903	0.5355	L	0.49513	1.565	0.42433	D	0.992686	P;P	0.52061	0.882;0.95	P;B	0.48030	0.564;0.372	D	0.85554	0.1223	10	0.56958	D	0.05	-25.634	18.8435	0.92194	0.0:1.0:0.0:0.0	.	1966;1979	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	N	1966;1979;1979;1969	ENSP00000351094:D1966N;ENSP00000352208:D1979N;ENSP00000360556:D1979N;ENSP00000360557:D1969N	ENSP00000351094:D1966N	D	-	1	0	MYOF	95060345	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.925000	0.70062	2.677000	0.91161	0.549000	0.68633	GAC		0.493	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		39	15	0	0	0	0.048971	0	39	15				
E4F1	1877	broad.mit.edu	37	16	2282496	2282496	+	Missense_Mutation	SNP	C	C	T	rs144383218		TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr16:2282496C>T	ENST00000301727.4	+	5	697	c.649C>T	c.(649-651)Cgc>Tgc	p.R217C	E4F1_ENST00000565090.1_Missense_Mutation_p.R217C|E4F1_ENST00000564139.1_Missense_Mutation_p.R217C	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	217	Mediates dimerization, DNA-binding, transcription repression of CCNA2 and interaction with HMGA2.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|mitotic cell cycle arrest (GO:0071850)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell cycle process (GO:0010564)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle, embryonic (GO:0009794)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			ovary(1)	1						TCACAGCAGCCGCAAGGACCA	0.697																																						ENST00000301727.4																			0				ovary(1)	1						c.(649-651)Cgc>Tgc		E4F transcription factor 1		C	CYS/ARG	1,4377		0,1,2188	33.0	29.0	30.0		649	4.7	1.0	16	dbSNP_134	30	0,8594		0,0,4297	yes	missense	E4F1	NM_004424.3	180	0,1,6485	TT,TC,CC		0.0,0.0228,0.0077	probably-damaging	217/785	2282496	1,12971	2189	4297	6486	SO:0001583	missense	1877				cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr16:2282496C>T	U87269	CCDS32370.1, CCDS73809.1, CCDS73810.1	16p13.3	2013-01-08				ENSG00000167967		"""Zinc fingers, C2H2-type"""	3121	protein-coding gene	gene with protein product		603022				9763670, 8828041	Standard	XM_005255155		Approved	E4F	uc002cpm.3	Q66K89		ENST00000301727.4:c.649C>T	16.37:g.2282496C>T	ENSP00000301727:p.Arg217Cys					E4F1_ENST00000565090.1_Missense_Mutation_p.R217C|E4F1_ENST00000564139.1_Missense_Mutation_p.R217C	p.R217C	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN			5	697	+			217			Mediates dimerization, DNA-binding, transcription repression of CCNA2 and interaction with HMGA2.		A8K2R4|O00146	Missense_Mutation	SNP	ENST00000301727.4	37	c.649C>T	CCDS32370.1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.811708	0.70797	2.28E-4	0.0	ENSG00000167967	ENST00000301727	T	0.38722	1.12	5.73	4.7	0.59300	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.223967	0.44483	D	0.000452	T	0.52108	0.1714	L	0.38531	1.155	0.49299	D	0.999777	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.69479	0.964;0.939;0.877	T	0.53165	-0.8477	10	0.87932	D	0	-41.7496	13.087	0.59146	0.2433:0.7566:0.0:0.0	.	213;217;217	E9PFZ8;E7EMF7;Q66K89	.;.;E4F1_HUMAN	C	217	ENSP00000301727:R217C	ENSP00000301727:R217C	R	+	1	0	E4F1	2222497	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.340000	0.43974	2.708000	0.92522	0.555000	0.69702	CGC		0.697	E4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435225.1	NM_004424		14	19	0	0	0	0.028581	0	14	19				
BCRP7	100133163	broad.mit.edu	37	22	18846098	18846098	+	3'UTR	SNP	G	G	A	rs9306211	byFrequency	TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr22:18846098G>A	ENST00000412938.1	+	0	3456																											ATGCCTCGGCGCTCGATCTCC	0.622																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18846098G>A																												ENST00000412938.1:c.*3453G>A	22.37:g.18846098G>A														0	3456	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.622	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			4	64	0	0	0	0.029380	0	4	64				
KCNA4	3739	broad.mit.edu	37	11	30033223	30033223	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr11:30033223C>T	ENST00000328224.6	-	2	2236	c.1003G>A	c.(1003-1005)Gac>Aac	p.D335N	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	335					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)	p.D335N(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	AGATCCCTGTCGTCCCTAAAC	0.517																																						ENST00000328224.6																			1	Substitution - Missense(1)	p.D335N(1)	large_intestine(1)	central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(1003-1005)Gac>Aac		potassium voltage-gated channel, shaker-related subfamily, member 4							86.0	78.0	81.0					11																	30033223		2048	4202	6250	SO:0001583	missense	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30033223C>T	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.1003G>A	11.37:g.30033223C>T	ENSP00000328511:p.Asp335Asn						p.D335N	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN			2	2236	-			335						Missense_Mutation	SNP	ENST00000328224.6	37	c.1003G>A	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.428234	0.83667	.	.	ENSG00000182255	ENST00000328224	T	0.71579	-0.58	5.16	5.16	0.70880	.	0.636212	0.15044	N	0.283675	T	0.61899	0.2384	L	0.43152	1.355	0.80722	D	1	P	0.38729	0.644	B	0.22880	0.042	T	0.67795	-0.5578	10	0.59425	D	0.04	.	18.6691	0.91504	0.0:1.0:0.0:0.0	.	335	P22459	KCNA4_HUMAN	N	335	ENSP00000328511:D335N	ENSP00000328511:D335N	D	-	1	0	KCNA4	29989799	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.976000	0.70484	2.412000	0.81896	0.655000	0.94253	GAC		0.517	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		40	50	0	0	0	0.092188	0	40	50				
PRPF39	55015	broad.mit.edu	37	14	45583422	45583422	+	Silent	SNP	G	G	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr14:45583422G>A	ENST00000355765.6	+	12	1964	c.1794G>A	c.(1792-1794)ctG>ctA	p.L598L		NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN	pre-mRNA processing factor 39	598					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						AAACACTCCTGAAAGAACAGG	0.318																																						ENST00000355765.6																			0				breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						c.(1792-1794)ctG>ctA		pre-mRNA processing factor 39							52.0	54.0	53.0					14																	45583422		2202	4299	6501	SO:0001819	synonymous_variant	55015				mRNA processing|RNA splicing	nucleus	binding	g.chr14:45583422G>A	AK000673	CCDS9682.2	14q21.1	2013-10-03	2013-10-03		ENSG00000185246	ENSG00000185246			20314	protein-coding gene	gene with protein product		614907	"""PRP39 pre-mRNA processing factor 39 homolog (yeast)"", ""PRP39 pre-mRNA processing factor 39 homolog (S. cerevisiae)"""				Standard	NM_017922		Approved	FLJ20666, FLJ11128	uc001wvz.4	Q86UA1	OTTHUMG00000140265	ENST00000355765.6:c.1794G>A	14.37:g.45583422G>A							p.L598L	NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN			12	1964	+			598					Q08AL1|Q08AL2|Q9NUU5	Silent	SNP	ENST00000355765.6	37	c.1794G>A	CCDS9682.2																																																																																				0.318	PRPF39-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319683.2			21	34	0	0	0	0.069288	0	21	34				
TSSC2	650368	broad.mit.edu	37	11	3427885	3427885	+	RNA	SNP	A	A	G			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr11:3427885A>G	ENST00000529482.1	+	0	1002									tumor suppressing subtransferable candidate 2 pseudogene																		AGCTTCACAGATCCACCGCTG	0.587																																						ENST00000529482.1																			0																																																			0							g.chr11:3427885A>G			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427885A>G														0	1002	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			3	26	0	0	0	0.004672	0	3	26				
JPH3	57338	broad.mit.edu	37	16	87678021	87678021	+	Silent	SNP	C	C	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr16:87678021C>T	ENST00000284262.2	+	2	782	c.540C>T	c.(538-540)gaC>gaT	p.D180D		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	180					calcium ion transport into cytosol (GO:0060402)|exploration behavior (GO:0035640)|learning (GO:0007612)|locomotion (GO:0040011)|memory (GO:0007613)|neuromuscular process controlling balance (GO:0050885)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)	calcium-release channel activity (GO:0015278)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		TGCATCCCGACGCCTCTCCGG	0.697																																						ENST00000284262.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30						c.(538-540)gaC>gaT		junctophilin 3							39.0	42.0	41.0					16																	87678021		2194	4296	6490	SO:0001819	synonymous_variant	57338				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding	g.chr16:87678021C>T	AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118			14203	protein-coding gene	gene with protein product		605268	"""trinucleotide repeat containing 22"""	TNRC22		10949023, 10891348	Standard	NM_020655		Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656	ENST00000284262.2:c.540C>T	16.37:g.87678021C>T							p.D180D	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0287)	2	782	+			180					D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Silent	SNP	ENST00000284262.2	37	c.540C>T	CCDS10962.1																																																																																				0.697	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269108.2			40	51	0	0	0	0.092188	0	40	51				
LRP2	4036	broad.mit.edu	37	2	170034411	170034411	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr2:170034411T>C	ENST00000263816.3	-	53	10580	c.10295A>G	c.(10294-10296)aAg>aGg	p.K3432R	LRP2_ENST00000461418.1_5'UTR	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3432					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TTTGTTTCCCTTTTCCACTGT	0.433																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(10294-10296)aAg>aGg		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						403.0	333.0	357.0					2																	170034411		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170034411T>C		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.10295A>G	2.37:g.170034411T>C	ENSP00000263816:p.Lys3432Arg					LRP2_ENST00000461418.1_5'UTR	p.K3432R	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	53	10580	-			3432					O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.10295A>G	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	T	14.06	2.421514	0.43020	.	.	ENSG00000081479	ENST00000263816;ENST00000536293	D	0.90133	-2.62	5.67	5.67	0.87782	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.045650	0.85682	N	0.000000	D	0.86777	0.6014	N	0.03281	-0.365	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.82967	-0.0194	10	0.02654	T	1	.	15.9143	0.79500	0.0:0.0:0.0:1.0	.	3432	P98164	LRP2_HUMAN	R	3432;127	ENSP00000263816:K3432R	ENSP00000263816:K3432R	K	-	2	0	LRP2	169742657	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.286000	0.72665	2.141000	0.66446	0.528000	0.53228	AAG		0.433	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		3	268	0	0	0	0.004672	0	3	268				
BLVRA	644	broad.mit.edu	37	7	43827558	43827558	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr7:43827558G>A	ENST00000402924.1	+	4	231	c.68G>A	c.(67-69)cGg>cAg	p.R23Q	BLVRA_ENST00000265523.4_Missense_Mutation_p.R23Q	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	23					heme catabolic process (GO:0042167)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	biliverdin reductase activity (GO:0004074)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12						GGCTCCGTGCGGATGAGGGAC	0.547																																						ENST00000402924.1																			0				endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12						c.(67-69)cGg>cAg		biliverdin reductase A	NADH(DB00157)						250.0	191.0	211.0					7																	43827558		2203	4300	6503	SO:0001583	missense	644				heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding	g.chr7:43827558G>A	BC008456	CCDS5472.1	7p13	2012-10-02			ENSG00000106605	ENSG00000106605	1.3.1.24		1062	protein-coding gene	gene with protein product		109750		BLVR			Standard	NM_001253823		Approved		uc003tir.3	P53004	OTTHUMG00000128953	ENST00000402924.1:c.68G>A	7.37:g.43827558G>A	ENSP00000385757:p.Arg23Gln					BLVRA_ENST00000265523.4_Missense_Mutation_p.R23Q	p.R23Q	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN			4	231	+			23					A8K747|O95019|Q86UX0|Q96QL4|Q9BRW8	Missense_Mutation	SNP	ENST00000402924.1	37	c.68G>A	CCDS5472.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.899853	0.91962	.	.	ENSG00000106605	ENST00000265523;ENST00000402924;ENST00000424330	T;T;T	0.21543	2.0;2.0;2.0	5.05	5.05	0.67936	Oxidoreductase, N-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.44074	0.1276	M	0.67953	2.075	0.46631	D	0.999133	D	0.89917	1.0	D	0.83275	0.996	T	0.13072	-1.0523	10	0.27082	T	0.32	.	16.2838	0.82709	0.0:0.0:1.0:0.0	.	23	P53004	BIEA_HUMAN	Q	23	ENSP00000265523:R23Q;ENSP00000385757:R23Q;ENSP00000412005:R23Q	ENSP00000265523:R23Q	R	+	2	0	BLVRA	43794083	1.000000	0.71417	0.450000	0.26969	0.833000	0.47200	4.853000	0.62911	2.522000	0.85027	0.555000	0.69702	CGG		0.547	BLVRA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339006.1	NM_000712		4	215	0	0	0	0.009096	0	4	215				
USH1C	10083	broad.mit.edu	37	11	17531254	17531254	+	Intron	SNP	G	G	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr11:17531254G>A	ENST00000318024.4	-	15	1393				USH1C_ENST00000527020.1_Intron|USH1C_ENST00000529563.1_Intron|USH1C_ENST00000005226.7_Silent_p.P554P|USH1C_ENST00000527720.1_Intron	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)						auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						GAGTCTTGGGGGGATAGTAGA	0.632																																						ENST00000005226.7																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						c.(1660-1662)ccC>ccT		Usher syndrome 1C (autosomal recessive, severe)							24.0	26.0	26.0					11																	17531254		2200	4293	6493	SO:0001627	intron_variant	10083				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding	g.chr11:17531254G>A	AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"""harmonin"""	605242	"""deafness, autosomal recessive 18"""	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.1284+7693C>T	11.37:g.17531254G>A						USH1C_ENST00000527020.1_Intron|USH1C_ENST00000527720.1_Intron|USH1C_ENST00000318024.4_Intron|USH1C_ENST00000529563.1_Intron	p.P554P	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN			18	1661	-			0					A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Silent	SNP	ENST00000318024.4	37	c.1662C>T	CCDS31438.1																																																																																				0.632	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	NM_005709		17	27	0	0	0	0.043863	0	17	27				
VRK1	7443	broad.mit.edu	37	14	97326941	97326941	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr14:97326941G>A	ENST00000216639.3	+	11	1086	c.937G>A	c.(937-939)Gaa>Aaa	p.E313K	VRK1_ENST00000555067.1_3'UTR	NM_003384.2	NP_003375.1	Q99986	VRK1_HUMAN	vaccinia related kinase 1	313	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Golgi disassembly (GO:0090166)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-T3 phosphorylation (GO:0072355)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi stack (GO:0005795)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H3-S10 specific) (GO:0035175)|histone kinase activity (H3-T3 specific) (GO:0072354)|nucleosomal histone binding (GO:0031493)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(1)|stomach(1)	12		Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.234)		AGACTACACTGAAAAACCTCT	0.323																																						ENST00000216639.3																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(1)|stomach(1)	12						c.(937-939)Gaa>Aaa		vaccinia related kinase 1							86.0	85.0	85.0					14																	97326941		2203	4299	6502	SO:0001583	missense	7443					cytoplasm|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr14:97326941G>A	AB000449	CCDS9947.1	14q32.2	2012-07-05			ENSG00000100749	ENSG00000100749			12718	protein-coding gene	gene with protein product		602168				9344656	Standard	XM_006720247		Approved		uc001yft.3	Q99986	OTTHUMG00000171459	ENST00000216639.3:c.937G>A	14.37:g.97326941G>A	ENSP00000216639:p.Glu313Lys					VRK1_ENST00000555067.1_3'UTR	p.E313K	NM_003384.2	NP_003375.1	Q99986	VRK1_HUMAN		COAD - Colon adenocarcinoma(157;0.234)	11	1086	+		Melanoma(154;0.155)	313			Protein kinase.		Q3SYL2	Missense_Mutation	SNP	ENST00000216639.3	37	c.937G>A	CCDS9947.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.674864	0.88445	.	.	ENSG00000100749	ENST00000216639	T	0.19806	2.12	6.03	6.03	0.97812	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.232106	0.51477	D	0.000097	T	0.43010	0.1228	M	0.88512	2.96	0.52501	D	0.99995	P	0.51351	0.944	P	0.50825	0.651	T	0.48980	-0.8986	10	0.72032	D	0.01	-38.8334	13.7134	0.62682	0.0699:0.0:0.9301:0.0	.	313	Q99986	VRK1_HUMAN	K	313	ENSP00000216639:E313K	ENSP00000216639:E313K	E	+	1	0	VRK1	96396694	1.000000	0.71417	0.330000	0.25442	0.958000	0.62258	6.454000	0.73493	2.861000	0.98227	0.655000	0.94253	GAA		0.323	VRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413520.1	NM_003384		14	20	0	0	0	0.020292	0	14	20				
ACER1	125981	broad.mit.edu	37	19	6312225	6312225	+	Silent	SNP	G	G	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr19:6312225G>A	ENST00000301452.4	-	3	362	c.285C>T	c.(283-285)ctC>ctT	p.L95L		NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	95					cell differentiation (GO:0030154)|cellular response to calcium ion (GO:0071277)|ceramide catabolic process (GO:0046514)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|regulation of lipid metabolic process (GO:0019216)|response to alkaline pH (GO:0010446)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ceramidase activity (GO:0017040)|dihydroceramidase activity (GO:0071633)			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						CACTGCCCAGGAGCCACAGGA	0.627																																						ENST00000301452.4																			0				NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						c.(283-285)ctC>ctT		alkaline ceramidase 1							64.0	55.0	58.0					19																	6312225		2203	4300	6503	SO:0001819	synonymous_variant	125981					endoplasmic reticulum membrane|integral to membrane	ceramidase activity	g.chr19:6312225G>A	AF347024	CCDS12161.1	19p13.3	2013-01-25	2008-12-19	2008-12-19	ENSG00000167769	ENSG00000167769	3.5.1.23	"""Alkaline ceramidase"""	18356	protein-coding gene	gene with protein product		613491	"""N-acylsphingosine amidohydrolase (alkaline ceramidase) 3"""	ASAH3		12783875	Standard	NM_133492		Approved		uc002mel.2	Q8TDN7		ENST00000301452.4:c.285C>T	19.37:g.6312225G>A							p.L95L	NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN			3	362	-			95						Silent	SNP	ENST00000301452.4	37	c.285C>T	CCDS12161.1																																																																																				0.627	ACER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452982.1	NM_133492		40	102	0	0	0	0.092188	0	40	102				
PCDHGA6	56109	broad.mit.edu	37	5	140755693	140755693	+	Silent	SNP	C	C	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr5:140755693C>T	ENST00000517434.1	+	1	2043	c.2043C>T	c.(2041-2043)tcC>tcT	p.S681S	PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	681	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGAGCCCTCCGCCAAACCCA	0.682																																						ENST00000517434.1																			0				breast(1)|large_intestine(1)	2						c.(2041-2043)tcC>tcT									47.0	56.0	53.0					5																	140755693		2200	4273	6473	SO:0001819	synonymous_variant	0							g.chr5:140755693C>T	AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.2043C>T	5.37:g.140755693C>T						PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron	p.S681S	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2043	+								A6H8K7|B2RN55|Q9Y5D1	Silent	SNP	ENST00000517434.1	37	c.2043C>T	CCDS54926.1																																																																																				0.682	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919		46	80	0	0	0	0.048971	0	46	80				
GMDS	2762	broad.mit.edu	37	6	1961060	1961060	+	Silent	SNP	C	C	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr6:1961060C>T	ENST00000380815.4	-	5	755	c.486G>A	c.(484-486)gtG>gtA	p.V162V	GMDS_ENST00000530927.1_Silent_p.V132V	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	162					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|GDP-mannose metabolic process (GO:0019673)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	GDP-mannose 4,6-dehydratase activity (GO:0008446)|NADP+ binding (GO:0070401)		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		GTATTTCCTGCACTTTCCCAT	0.498																																						ENST00000380815.4																		GMDS/PDE8B(2)	0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21						c.(484-486)gtG>gtA		GDP-mannose 4,6-dehydratase							165.0	165.0	165.0					6																	1961060		2203	4300	6503	SO:0001819	synonymous_variant	2762				'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity	g.chr6:1961060C>T	AF042377	CCDS4474.1, CCDS58994.1	6p25	2011-09-14			ENSG00000112699	ENSG00000112699	4.2.1.47	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	4369	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 3E, member 1"""	602884				9525924, 19027726	Standard	NM_001500		Approved	GMD, SDR3E1	uc003mtq.3	O60547	OTTHUMG00000016143	ENST00000380815.4:c.486G>A	6.37:g.1961060C>T						GMDS_ENST00000530927.1_Silent_p.V132V	p.V162V	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)	5	755	-	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)	162					E9PI88|O75357|Q5T954|Q6FH09|Q9UGZ3|Q9UJK9	Silent	SNP	ENST00000380815.4	37	c.486G>A	CCDS4474.1																																																																																				0.498	GMDS-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043380.3			65	99	0	0	0	0.048971	0	65	99				
PSKH2	85481	broad.mit.edu	37	8	87081703	87081703	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr8:87081703C>T	ENST00000276616.2	-	1	223	c.149G>A	c.(148-150)cGc>cAc	p.R50H	PSKH2_ENST00000517981.1_Intron	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	50							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			GGCTCGGAAGCGAGCCACCTG	0.672																																						ENST00000276616.2																			0				NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47						c.(148-150)cGc>cAc		protein serine kinase H2							12.0	16.0	15.0					8																	87081703		2195	4295	6490	SO:0001583	missense	85481						ATP binding|protein serine/threonine kinase activity	g.chr8:87081703C>T	AY037806	CCDS6240.1	8q21.13	2004-06-03				ENSG00000147613			18997	protein-coding gene	gene with protein product							Standard	NM_033126		Approved		uc011lfy.2	Q96QS6		ENST00000276616.2:c.149G>A	8.37:g.87081703C>T	ENSP00000276616:p.Arg50His					PSKH2_ENST00000517981.1_Intron	p.R50H	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	STAD - Stomach adenocarcinoma(118;0.129)		1	223	-			50					A0AV22	Missense_Mutation	SNP	ENST00000276616.2	37	c.149G>A	CCDS6240.1	.	.	.	.	.	.	.	.	.	.	C	14.05	2.420593	0.42918	.	.	ENSG00000147613	ENST00000276616	T	0.39787	1.06	4.59	-1.64	0.08318	Protein kinase-like domain (1);	.	.	.	.	T	0.30759	0.0775	L	0.46157	1.445	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.29027	-1.0025	9	0.66056	D	0.02	.	4.2046	0.10483	0.1631:0.3595:0.0:0.4774	.	50	Q96QS6	KPSH2_HUMAN	H	50	ENSP00000276616:R50H	ENSP00000276616:R50H	R	-	2	0	PSKH2	87150819	0.050000	0.20438	0.001000	0.08648	0.982000	0.71751	0.445000	0.21677	-0.639000	0.05502	0.467000	0.42956	CGC		0.672	PSKH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374628.1	NM_033126		11	19	0	0	0	0.093190	0	11	19				
SDC1	6382	broad.mit.edu	37	2	20403920	20403920	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr2:20403920G>A	ENST00000254351.4	-	3	525	c.281C>T	c.(280-282)cCg>cTg	p.P94L	SDC1_ENST00000381150.1_Missense_Mutation_p.P94L|SDC1_ENST00000403076.1_Missense_Mutation_p.P94L|SDC1_ENST00000482879.1_5'UTR	NM_002997.4	NP_002988	P18827	SDC1_HUMAN	syndecan 1	94					canonical Wnt signaling pathway (GO:0060070)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|myoblast development (GO:0048627)|odontogenesis (GO:0042476)|phototransduction, visible light (GO:0007603)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to toxic substance (GO:0009636)|retinoid metabolic process (GO:0001523)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|striated muscle cell development (GO:0055002)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		CTCTCCAGCCGGCAGGGTGGA	0.687																																						ENST00000381150.1																			0				NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21						c.(280-282)cCg>cTg		syndecan 1							41.0	48.0	45.0					2																	20403920		2201	4296	6497	SO:0001583	missense	6382				lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding	g.chr2:20403920G>A	AJ551176	CCDS1697.1	2p24.1	2008-02-05			ENSG00000115884	ENSG00000115884		"""CD molecules"", ""Proteoglycans / Cell Surface : Syndecans"""	10658	protein-coding gene	gene with protein product	"""syndecan proteoglycan 1"""	186355		SDC			Standard	XM_005262621		Approved	CD138, syndecan, SYND1	uc002rdo.1	P18827	OTTHUMG00000090751	ENST00000254351.4:c.281C>T	2.37:g.20403920G>A	ENSP00000254351:p.Pro94Leu					SDC1_ENST00000254351.4_Missense_Mutation_p.P94L|SDC1_ENST00000482879.1_5'UTR|SDC1_ENST00000403076.1_Missense_Mutation_p.P94L	p.P94L	NM_001006946.1	NP_001006947.1	P18827	SDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.221)	4	671	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		94					D6W523|Q53QV0|Q546D3|Q96HB7	Missense_Mutation	SNP	ENST00000254351.4	37	c.281C>T	CCDS1697.1	.	.	.	.	.	.	.	.	.	.	g	7.452	0.642889	0.14451	.	.	ENSG00000115884	ENST00000254351;ENST00000381150;ENST00000403076;ENST00000429035	T;T;T;T	0.40476	2.08;2.08;1.04;1.03	3.86	0.89	0.19218	.	0.381547	0.22212	N	0.063100	T	0.29850	0.0746	L	0.46157	1.445	0.23023	N	0.998415	B;B	0.15141	0.012;0.003	B;B	0.15870	0.014;0.008	T	0.26744	-1.0094	10	0.87932	D	0	-6.8653	3.219	0.06708	0.2401:0.0:0.5584:0.2014	.	94;94	E9PHH3;P18827	.;SDC1_HUMAN	L	94;94;94;102	ENSP00000254351:P94L;ENSP00000370542:P94L;ENSP00000384613:P94L;ENSP00000400773:P102L	ENSP00000254351:P94L	P	-	2	0	SDC1	20267401	0.002000	0.14202	0.117000	0.21633	0.014000	0.08584	0.129000	0.15830	0.182000	0.20032	-1.197000	0.01672	CCG		0.687	SDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207495.1	NM_001006946		45	95	0	0	0	0.039052	0	45	95				
IL31RA	133396	broad.mit.edu	37	5	55178899	55178899	+	Missense_Mutation	SNP	G	G	A	rs142659639		TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr5:55178899G>A	ENST00000447346.2	+	5	547	c.482G>A	c.(481-483)cGt>cAt	p.R161H	IL31RA_ENST00000359040.5_Missense_Mutation_p.R161H|IL31RA_ENST00000297015.3_Missense_Mutation_p.R19H|IL31RA_ENST00000354961.4_Missense_Mutation_p.R142H|IL31RA_ENST00000490985.1_Missense_Mutation_p.R19H|IL31RA_ENST00000396836.2_Missense_Mutation_p.R161H|IL31RA_ENST00000396834.1_Missense_Mutation_p.R142H	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	129	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|homeostatic process (GO:0042592)|JAK-STAT cascade (GO:0007259)|macrophage differentiation (GO:0030225)|MAPK cascade (GO:0000165)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of macrophage activation (GO:0043031)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				AAGATTTTCCGTGTGAAACCA	0.353																																						ENST00000396834.1																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21						c.(424-426)cGt>cAt		interleukin 31 receptor A		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	98.0	97.0	97.0		425,482,425,56,482	-1.4	0.0	5	dbSNP_134	97	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	IL31RA	NM_001242636.1,NM_001242637.1,NM_001242638.1,NM_001242639.1,NM_139017.5	29,29,29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign,benign,benign	142/746,161/682,142/663,19/623,161/765	55178899	1,13005	2203	4300	6503	SO:0001583	missense	133396				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity	g.chr5:55178899G>A	AY499339	CCDS3970.2, CCDS56365.1, CCDS56366.1, CCDS56367.1, CCDS75244.1, CCDS75245.1	5q11.2	2013-02-11			ENSG00000164509	ENSG00000164509		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	18969	protein-coding gene	gene with protein product		609510				15184896, 11877449	Standard	NM_139017		Approved	CRL3, GLM-R, CRL, Glmr, IL-31RA	uc003jql.3	Q8NI17	OTTHUMG00000097045	ENST00000447346.2:c.482G>A	5.37:g.55178899G>A	ENSP00000415900:p.Arg161His					IL31RA_ENST00000447346.2_Missense_Mutation_p.R161H|IL31RA_ENST00000354961.4_Missense_Mutation_p.R142H|IL31RA_ENST00000490985.1_Missense_Mutation_p.R19H|IL31RA_ENST00000396836.2_Missense_Mutation_p.R161H|IL31RA_ENST00000359040.5_Missense_Mutation_p.R161H|IL31RA_ENST00000297015.3_Missense_Mutation_p.R19H	p.R142H	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN			7	921	+		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)	129			Fibronectin type-III 2.		A6NIF8|Q2TBA1|Q6EBC3|Q6EBC4|Q6EBC5|Q6EBC6|Q6UWL8|Q8WYJ0	Missense_Mutation	SNP	ENST00000447346.2	37	c.425G>A	CCDS3970.2	.	.	.	.	.	.	.	.	.	.	G	12.70	2.017069	0.35606	2.27E-4	0.0	ENSG00000164509	ENST00000396836;ENST00000396834;ENST00000447346;ENST00000359040;ENST00000297015;ENST00000490985;ENST00000354961	T;T;T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4;0.4;0.4	6.01	-1.42	0.08913	Fibronectin, type III (4);Immunoglobulin-like fold (1);	4.287320	0.00447	N	0.000099	T	0.30947	0.0781	N	0.11560	0.145	0.09310	N	1	B;B;B;B;B	0.33171	0.247;0.107;0.4;0.107;0.284	B;B;B;B;B	0.30316	0.114;0.004;0.069;0.002;0.008	T	0.21314	-1.0249	10	0.56958	D	0.05	-9.4391	3.483	0.07609	0.1705:0.3608:0.3566:0.1121	.	129;161;142;161;161	Q8NI17;Q8NI17-5;Q8NI17-3;Q8NI17-2;Q8NI17-8	IL31R_HUMAN;.;.;.;.	H	161;142;161;161;19;19;142	ENSP00000380048:R161H;ENSP00000380046:R142H;ENSP00000415900:R161H;ENSP00000351935:R161H;ENSP00000297015:R19H;ENSP00000427533:R19H;ENSP00000347047:R142H	ENSP00000297015:R19H	R	+	2	0	IL31RA	55214656	0.023000	0.18921	0.026000	0.17262	0.676000	0.39594	-0.088000	0.11198	-0.167000	0.10871	0.655000	0.94253	CGT		0.353	IL31RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214148.1	NM_139017		35	63	0	0	0	0.064281	0	35	63				
TTN	7273	broad.mit.edu	37	2	179498031	179498031	+	Silent	SNP	C	C	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr2:179498031C>T	ENST00000591111.1	-	183	38270	c.38046G>A	c.(38044-38046)aaG>aaA	p.K12682K	TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.K5450K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.K14323K|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.K5383K|TTN_ENST00000460472.2_Silent_p.K5258K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Silent_p.K11755K|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12682					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGTACAGAGGCTTTTCCACTT	0.403																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(42967-42969)aaG>aaA		titin							108.0	108.0	108.0					2																	179498031		1836	4093	5929	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179498031C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.38046G>A	2.37:g.179498031C>T						TTN_ENST00000359218.5_Silent_p.K5383K|TTN_ENST00000342992.6_Silent_p.K11755K|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Silent_p.K12682K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Silent_p.K5450K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.K5258K|TTN-AS1_ENST00000592630.1_RNA	p.K14323K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		233	43193	-			12682					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.42969G>A																																																																																					0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		68	100	0	0	0	0.048971	0	68	100				
C17orf64	124773	broad.mit.edu	37	17	58511145	58511145	+	IGR	SNP	C	C	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr17:58511145C>T	ENST00000269127.4	+	0	950				RPL12P38_ENST00000588627.1_RNA	NM_181707.2	NP_859058.2	Q86WR6	CQ064_HUMAN	chromosome 17 open reading frame 64											breast(2)|large_intestine(1)|lung(3)	6	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;5.81e-13)|all cancers(12;2.17e-11)|Colorectal(3;0.01)			ATGAGGGTGGCGGCCATCAAC	0.463																																						ENST00000588627.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr17:58511145C>T	BC048806	CCDS32698.2	17q23.2	2005-12-16			ENSG00000141371	ENSG00000141371			26990	protein-coding gene	gene with protein product						12477932	Standard	NM_181707		Approved		uc002iyq.3	Q86WR6	OTTHUMG00000157171		17.37:g.58511145C>T														0	2212	-								Q8IY87	RNA	SNP	ENST00000269127.4	37		CCDS32698.2																																																																																				0.463	C17orf64-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000347743.1	NM_181707		15	24	0	0	0	0.028581	0	15	24				
KCNJ2	3759	broad.mit.edu	37	17	68171691	68171691	+	Missense_Mutation	SNP	A	A	G	rs150326473		TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr17:68171691A>G	ENST00000243457.3	+	2	894	c.511A>G	c.(511-513)Atc>Gtc	p.I171V	KCNJ2_ENST00000535240.1_Missense_Mutation_p.I171V	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	171					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|magnesium ion transport (GO:0015693)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of resting membrane potential (GO:0060075)|regulation of skeletal muscle contraction via regulation of action potential (GO:0014861)|relaxation of cardiac muscle (GO:0055119)|relaxation of skeletal muscle (GO:0090076)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of membrane (GO:0031224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					GGGCTGCATCATCGATGCTTT	0.483													A|||	1	0.000199681	0.0008	0.0	5008	,	,		22828	0.0		0.0	False		,,,				2504	0.0					ENST00000243457.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25						c.(511-513)Atc>Gtc		potassium inwardly-rectifying channel, subfamily J, member 2		A	VAL/ILE	1,4405	2.1+/-5.4	0,1,2202	172.0	154.0	160.0		511	6.0	1.0	17	dbSNP_134	160	0,8600		0,0,4300	no	missense	KCNJ2	NM_000891.2	29	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	benign	171/428	68171691	1,13005	2203	4300	6503	SO:0001583	missense	3759				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding	g.chr17:68171691A>G	AF011904	CCDS11688.1	17q24.3	2014-09-17				ENSG00000123700		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6263	protein-coding gene	gene with protein product		600681				7696590, 11240146, 16382105	Standard	NM_000891		Approved	Kir2.1, IRK1, LQT7	uc002jir.3	P63252		ENST00000243457.3:c.511A>G	17.37:g.68171691A>G	ENSP00000243457:p.Ile171Val					KCNJ2_ENST00000535240.1_Missense_Mutation_p.I171V	p.I171V	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN			2	894	+	Breast(10;1.64e-08)		171					O15110|P48049	Missense_Mutation	SNP	ENST00000243457.3	37	c.511A>G	CCDS11688.1	.	.	.	.	.	.	.	.	.	.	A	9.630	1.136052	0.21123	2.27E-4	0.0	ENSG00000123700	ENST00000535240;ENST00000243457	D;D	0.94376	-3.41;-3.41	5.96	5.96	0.96718	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.000000	0.85682	D	0.000000	D	0.91998	0.7465	L	0.52011	1.625	0.54753	D	0.999986	B	0.34313	0.448	B	0.39217	0.294	D	0.90308	0.4335	9	.	.	.	.	16.4311	0.83844	1.0:0.0:0.0:0.0	.	171	P63252	IRK2_HUMAN	V	171	ENSP00000441848:I171V;ENSP00000243457:I171V	.	I	+	1	0	KCNJ2	65683286	1.000000	0.71417	0.996000	0.52242	0.880000	0.50808	9.339000	0.96797	2.277000	0.76020	0.528000	0.53228	ATC		0.483	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450889.1	NM_000891		71	102	0	0	0	0.048971	0	71	102				
NPLOC4	55666	broad.mit.edu	37	17	79526328	79526328	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr17:79526328G>A	ENST00000331134.6	-	17	1999	c.1784C>T	c.(1783-1785)cCa>cTa	p.P595L	NPLOC4_ENST00000573876.1_3'UTR|NPLOC4_ENST00000572760.1_3'UTR	NM_017921.2	NP_060391.2	Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	595					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)	endoplasmic reticulum (GO:0005783)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GCCTGTGCCTGGCTGGTTCAT	0.672																																						ENST00000331134.6																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11						c.(1783-1785)cCa>cTa		nuclear protein localization 4 homolog (S. cerevisiae)							21.0	27.0	25.0					17																	79526328		2100	4218	6318	SO:0001583	missense	55666				cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding	g.chr17:79526328G>A	AB040932	CCDS45812.1	17q25.3	2012-09-20			ENSG00000182446	ENSG00000182446			18261	protein-coding gene	gene with protein product		606590				11574150, 10811609	Standard	NM_017921		Approved	NPL4, FLJ20657, KIAA1499	uc002kas.3	Q8TAT6	OTTHUMG00000177990	ENST00000331134.6:c.1784C>T	17.37:g.79526328G>A	ENSP00000331487:p.Pro595Leu					NPLOC4_ENST00000572760.1_3'UTR|NPLOC4_ENST00000573876.1_3'UTR	p.P595L	NM_017921.2	NP_060391.2	Q8TAT6	NPL4_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		17	1999	-	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		595					Q8N3J1|Q9H8V2|Q9H964|Q9NWR5|Q9P229	Missense_Mutation	SNP	ENST00000331134.6	37	c.1784C>T	CCDS45812.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.472004	0.63737	.	.	ENSG00000182446	ENST00000331134	T	0.48201	0.82	5.18	5.18	0.71444	Zinc finger, RanBP2-type (3);	.	.	.	.	T	0.44030	0.1274	L	0.50333	1.59	0.80722	D	1	B	0.29862	0.259	B	0.24155	0.051	T	0.34354	-0.9832	9	0.39692	T	0.17	.	17.6159	0.88067	0.0:0.0:1.0:0.0	.	595	Q8TAT6	NPL4_HUMAN	L	595	ENSP00000331487:P595L	ENSP00000331487:P595L	P	-	2	0	NPLOC4	77136772	1.000000	0.71417	0.964000	0.40570	0.800000	0.45204	8.967000	0.93402	2.699000	0.92147	0.655000	0.94253	CCA		0.672	NPLOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440140.1			10	10	0	0	0	0.080935	0	10	10				
SAP130	79595	broad.mit.edu	37	2	128747195	128747195	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr2:128747195C>A	ENST00000259235.3	-	13	1930	c.1801G>T	c.(1801-1803)Ggg>Tgg	p.G601W	SAP130_ENST00000259234.6_Missense_Mutation_p.G575W|SAP130_ENST00000357702.5_Missense_Mutation_p.G601W	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	601					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		GGCTGAAGCCCTTGTGTGTTG	0.512																																						ENST00000357702.5																			0				NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45						c.(1801-1803)Ggg>Tgg		Sin3A-associated protein, 130kDa							114.0	110.0	112.0					2																	128747195		2203	4300	6503	SO:0001583	missense	79595				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr2:128747195C>A	BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.1801G>T	2.37:g.128747195C>A	ENSP00000259235:p.Gly601Trp					SAP130_ENST00000259235.3_Missense_Mutation_p.G601W|SAP130_ENST00000259234.6_Missense_Mutation_p.G575W	p.G601W	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0771)	13	1932	-	Colorectal(110;0.1)		601					B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Missense_Mutation	SNP	ENST00000259235.3	37	c.1801G>T	CCDS2153.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.358165	0.61403	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234	.	.	.	5.92	5.92	0.95590	.	0.097857	0.64402	D	0.000001	T	0.68229	0.2978	L	0.27053	0.805	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.83275	0.991;0.996;0.992;0.996;0.992	T	0.70521	-0.4849	9	0.87932	D	0	-14.6439	20.3214	0.98679	0.0:1.0:0.0:0.0	.	601;574;601;131;239	B7ZLM3;Q96DP1;Q9H0E3;Q9H0E3-2;B3KRT9	.;.;SP130_HUMAN;.;.	W	601;601;575	.	ENSP00000259234:G575W	G	-	1	0	SAP130	128463665	1.000000	0.71417	0.982000	0.44146	0.990000	0.78478	5.617000	0.67716	2.804000	0.96469	0.655000	0.94253	GGG		0.512	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545		4	133	1	0	0.000602214	0.014758	0.000662942	4	133				
DNAH7	56171	broad.mit.edu	37	2	196720560	196720560	+	Missense_Mutation	SNP	T	T	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr2:196720560T>A	ENST00000312428.6	-	45	8670	c.8570A>T	c.(8569-8571)cAa>cTa	p.Q2857L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2857	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AGCCTTCTTTTGTTTATTTAA	0.403																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(8569-8571)cAa>cTa		dynein, axonemal, heavy chain 7							251.0	236.0	241.0					2																	196720560		1836	4097	5933	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196720560T>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.8570A>T	2.37:g.196720560T>A	ENSP00000311273:p.Gln2857Leu						p.Q2857L	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			45	8670	-			2857			Stalk (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.8570A>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	T	13.07	2.128176	0.37533	.	.	ENSG00000118997	ENST00000312428	T	0.74002	-0.8	5.31	5.31	0.75309	Dynein heavy chain, coiled coil stalk (1);	0.184614	0.47455	D	0.000236	T	0.66218	0.2767	L	0.36672	1.1	0.80722	D	1	B	0.11235	0.004	B	0.16722	0.016	T	0.60969	-0.7157	10	0.28530	T	0.3	.	15.43	0.75084	0.0:0.0:0.0:1.0	.	2857	Q8WXX0	DYH7_HUMAN	L	2857	ENSP00000311273:Q2857L	ENSP00000311273:Q2857L	Q	-	2	0	DNAH7	196428805	0.998000	0.40836	0.227000	0.23927	0.446000	0.32137	4.805000	0.62561	2.231000	0.72958	0.455000	0.32223	CAA		0.403	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		140	216	0	0	0	0.048971	0	140	216				
WDR7	23335	broad.mit.edu	37	18	54424326	54424326	+	Silent	SNP	G	G	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr18:54424326G>A	ENST00000254442.3	+	15	2713	c.2502G>A	c.(2500-2502)tcG>tcA	p.S834S	WDR7_ENST00000357574.3_Silent_p.S834S|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	834					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GCACCGTATCGTTTGGCCTCT	0.493																																						ENST00000254442.3																			0				NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78						c.(2500-2502)tcG>tcA		WD repeat domain 7							194.0	178.0	183.0					18																	54424326		2203	4300	6503	SO:0001819	synonymous_variant	23335							g.chr18:54424326G>A	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.2502G>A	18.37:g.54424326G>A						WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Silent_p.S834S	p.S834S	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	15	2713	+			834					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Silent	SNP	ENST00000254442.3	37	c.2502G>A	CCDS11962.1																																																																																				0.493	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			82	127	0	0	0	0.048971	0	82	127				
OR4X2	119764	broad.mit.edu	37	11	48266712	48266712	+	Silent	SNP	C	C	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr11:48266712C>T	ENST00000302329.3	+	1	105	c.57C>T	c.(55-57)tgC>tgT	p.C19C		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	19						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						AGAGGGTTTGCTTTGTGATAT	0.448																																						ENST00000302329.3																			0				breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(55-57)tgC>tgT		olfactory receptor, family 4, subfamily X, member 2							197.0	163.0	175.0					11																	48266712		2201	4298	6499	SO:0001819	synonymous_variant	119764				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48266712C>T	AB065847	CCDS31486.1	11p11.2	2012-08-09			ENSG00000172208	ENSG00000172208		"""GPCR / Class A : Olfactory receptors"""	15184	protein-coding gene	gene with protein product							Standard	NM_001004727		Approved		uc001ngs.1	Q8NGF9	OTTHUMG00000165302	ENST00000302329.3:c.57C>T	11.37:g.48266712C>T							p.C19C	NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN			1	105	+			19					B2RNK3|Q6IF73|Q96R63	Silent	SNP	ENST00000302329.3	37	c.57C>T	CCDS31486.1																																																																																				0.448	OR4X2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383376.2	NM_001004727		58	87	0	0	0	0.048971	0	58	87				
SMAD1	4086	broad.mit.edu	37	4	146435947	146435947	+	Missense_Mutation	SNP	C	C	T	rs370506404		TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr4:146435947C>T	ENST00000515385.1	+	2	724	c.182C>T	c.(181-183)cCg>cTg	p.P61L	SMAD1_ENST00000302085.4_Missense_Mutation_p.P61L|RP11-301H24.4_ENST00000513542.1_RNA|SMAD1_ENST00000394092.2_Missense_Mutation_p.P61L			Q15797	SMAD1_HUMAN	SMAD family member 1	61	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cardiac muscle cell proliferation (GO:0060038)|cartilage development (GO:0051216)|cellular response to BMP stimulus (GO:0071773)|embryonic pattern specification (GO:0009880)|gamete generation (GO:0007276)|hindbrain development (GO:0030902)|homeostatic process (GO:0042592)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|mesodermal cell fate commitment (GO:0001710)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|osteoblast fate commitment (GO:0002051)|positive regulation of cartilage development (GO:0061036)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of gene expression (GO:0010628)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|primary miRNA processing (GO:0031053)|protein phosphorylation (GO:0006468)|response to drug (GO:0042493)|response to organonitrogen compound (GO:0010243)|signal transduction (GO:0007165)|SMAD protein complex assembly (GO:0007183)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|mitochondrion (GO:0005739)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	co-SMAD binding (GO:0070410)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)			endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					CCAGGGCAACCGAGTAACTGT	0.532																																					Pancreas(182;1287 2092 10326 35158 50562)	ENST00000515385.1																			0				endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17						c.(181-183)cCg>cTg		SMAD family member 1		C	LEU/PRO,LEU/PRO	0,4406		0,0,2203	87.0	82.0	84.0		182,182	5.0	0.9	4		84	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SMAD1	NM_005900.2,NM_001003688.1	98,98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	61/466,61/466	146435947	1,13005	2203	4300	6503	SO:0001583	missense	4086				BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity	g.chr4:146435947C>T	U59423	CCDS3765.1	4q31.21	2013-10-22	2006-11-06	2004-05-26	ENSG00000170365	ENSG00000170365		"""SMADs"""	6767	protein-coding gene	gene with protein product		601595	"""MAD, mothers against decapentaplegic homolog 1 (Drosophila)"", ""SMAD, mothers against DPP homolog 1 (Drosophila)"""	MADH1		8653785, 8673135	Standard	NM_005900		Approved	MADR1, JV4-1	uc003ikc.3	Q15797	OTTHUMG00000161592	ENST00000515385.1:c.182C>T	4.37:g.146435947C>T	ENSP00000426568:p.Pro61Leu					SMAD1_ENST00000394092.2_Missense_Mutation_p.P61L|SMAD1_ENST00000302085.4_Missense_Mutation_p.P61L|RP11-301H24.4_ENST00000513542.1_RNA	p.P61L			Q15797	SMAD1_HUMAN			2	724	+	all_hematologic(180;0.151)		61			MH1.		A8KAJ0|D3DNZ9|Q16636|Q9UFT8	Missense_Mutation	SNP	ENST00000515385.1	37	c.182C>T	CCDS3765.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.324564	0.60634	0.0	1.16E-4	ENSG00000170365	ENST00000514778;ENST00000507594;ENST00000514831;ENST00000302085;ENST00000512019;ENST00000394092;ENST00000515385	T;T;T;T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7	5.03	5.03	0.67393	MAD homology, MH1 (3);MAD homology 1, Dwarfin-type (2);	0.000000	0.85682	D	0.000000	T	0.72930	0.3522	M	0.72624	2.21	0.80722	D	1	B;B	0.28820	0.003;0.224	B;B	0.30572	0.003;0.117	T	0.74097	-0.3775	10	0.59425	D	0.04	.	18.7271	0.91718	0.0:1.0:0.0:0.0	.	61;61	D6RD62;Q15797	.;SMAD1_HUMAN	L	61	ENSP00000424959:P61L;ENSP00000424649:P61L;ENSP00000425270:P61L;ENSP00000305769:P61L;ENSP00000427002:P61L;ENSP00000377652:P61L;ENSP00000426568:P61L	ENSP00000305769:P61L	P	+	2	0	SMAD1	146655397	1.000000	0.71417	0.929000	0.37066	0.593000	0.36681	6.030000	0.70903	2.490000	0.84030	0.655000	0.94253	CCG		0.532	SMAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365467.1	NM_005900		27	38	0	0	0	0.091800	0	27	38				
RNF112	7732	broad.mit.edu	37	17	19316707	19316707	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr17:19316707G>A	ENST00000461366.1	+	5	918	c.703G>A	c.(703-705)Ggg>Agg	p.G235R	RNF112_ENST00000580109.1_3'UTR|CTB-187M2.2_ENST00000579897.1_RNA	NM_007148.4	NP_009079.2	Q9ULX5	RN112_HUMAN	ring finger protein 112	235	GB1/RHD3-type G.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						CTTCTTGCTGGGGAAAGAAGG	0.627																																						ENST00000461366.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						c.(703-705)Ggg>Agg		ring finger protein 112							20.0	23.0	22.0					17																	19316707		1923	4121	6044	SO:0001583	missense	7732						GTP binding|GTPase activity|zinc ion binding	g.chr17:19316707G>A	AF054587	CCDS58529.1	17p11.2	2013-01-16	2008-06-13	2008-06-13	ENSG00000128482	ENSG00000128482		"""RING-type (C3HC4) zinc fingers"""	12968	protein-coding gene	gene with protein product		601237	"""zinc finger protein 179"""	ZNF179		8660987, 9806830	Standard	NM_007148		Approved	BFP	uc010vyw.2	Q9ULX5	OTTHUMG00000059601	ENST00000461366.1:c.703G>A	17.37:g.19316707G>A	ENSP00000454919:p.Gly235Arg					RNF112_ENST00000580109.1_3'UTR	p.G235R	NM_007148.4	NP_009079.2	Q7Z5V9	Q7Z5V9_HUMAN			5	918	+			235					O60633|Q7Z5V9	Missense_Mutation	SNP	ENST00000461366.1	37	c.703G>A	CCDS58529.1																																																																																				0.627	RNF112-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132549.4	NM_007148		21	27	0	0	0	0.062417	0	21	27				
ARHGEF28	64283	broad.mit.edu	37	5	73048961	73048961	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr5:73048961G>A	ENST00000426542.2	+	3	429	c.409G>A	c.(409-411)Gtg>Atg	p.V137M	ARHGEF28_ENST00000545377.1_Missense_Mutation_p.V137M|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.V137M|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.V137M|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.V137M|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.V137M			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	137					central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)										TGAGGAGCTCGTGCTGGCTCT	0.567																																						ENST00000545377.1																			0											c.(409-411)Gtg>Atg		Rho guanine nucleotide exchange factor (GEF) 28							41.0	44.0	43.0					5																	73048961		2137	4238	6375	SO:0001583	missense	64283							g.chr5:73048961G>A		CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.409G>A	5.37:g.73048961G>A	ENSP00000412175:p.Val137Met					ARHGEF28_ENST00000437974.1_Missense_Mutation_p.V137M|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.V137M|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.V137M|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.V137M|ARHGEF28_ENST00000426542.2_Missense_Mutation_p.V137M	p.V137M	NM_001080479.2	NP_001073948.2					4	585	+								B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Missense_Mutation	SNP	ENST00000426542.2	37	c.409G>A	CCDS54870.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.054950	0.36277	.	.	ENSG00000214944	ENST00000296794;ENST00000545377;ENST00000513042;ENST00000287898;ENST00000437974;ENST00000426542	T;T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39;0.39	5.64	5.64	0.86602	.	.	.	.	.	T	0.35098	0.0920	N	0.22421	0.69	0.27151	N	0.961401	P;P;P;P	0.52463	0.703;0.703;0.953;0.803	B;B;B;B	0.39152	0.048;0.048;0.292;0.197	T	0.17684	-1.0361	9	0.33940	T	0.23	.	8.7422	0.34564	0.1613:0.0:0.8387:0.0	.	137;137;137;137	Q8N1W1;E9PC75;Q8N1W1-2;Q8N1W1-4	RGNEF_HUMAN;.;.;.	M	137	ENSP00000296794:V137M;ENSP00000441913:V137M;ENSP00000441436:V137M;ENSP00000287898:V137M;ENSP00000411459:V137M;ENSP00000412175:V137M	ENSP00000287898:V137M	V	+	1	0	RP11-428C6.1	73084717	1.000000	0.71417	0.982000	0.44146	0.847000	0.48162	4.504000	0.60414	2.655000	0.90218	0.561000	0.74099	GTG		0.567	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368975.1			13	17	0	0	0	0.105934	0	13	17				
DPY19L1	23333	broad.mit.edu	37	7	34978935	34978935	+	Silent	SNP	T	T	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr7:34978935T>A	ENST00000310974.4	-	20	1842	c.1698A>T	c.(1696-1698)gcA>gcT	p.A566A	MIR548N_ENST00000408742.1_RNA	NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	566						integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)			endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						TGGGCCGAAGTGCAGAGAGCT	0.502																																						ENST00000310974.4																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						c.(1696-1698)gcA>gcT		dpy-19-like 1 (C. elegans)							117.0	110.0	113.0					7																	34978935		2093	4243	6336	SO:0001819	synonymous_variant	23333					integral to membrane		g.chr7:34978935T>A	AB020684	CCDS43567.1	7p14.3-p14.2	2006-04-26			ENSG00000173852	ENSG00000173852			22205	protein-coding gene	gene with protein product		613892					Standard	NM_015283		Approved	KIAA0877	uc003tem.4	Q2PZI1	OTTHUMG00000154888	ENST00000310974.4:c.1698A>T	7.37:g.34978935T>A							p.A566A	NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN			20	1842	-			566					O94954|Q4G151	Silent	SNP	ENST00000310974.4	37	c.1698A>T	CCDS43567.1	.	.	.	.	.	.	.	.	.	.	T	9.246	1.039460	0.19669	.	.	ENSG00000173852	ENST00000428054	.	.	.	5.9	-11.8	0.00035	.	.	.	.	.	T	0.39332	0.1074	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59768	-0.7392	4	.	.	.	-14.3078	4.2562	0.10719	0.2549:0.3827:0.2518:0.1106	.	.	.	.	S	16	.	.	T	-	1	0	DPY19L1	34945460	0.000000	0.05858	0.000000	0.03702	0.825000	0.46686	-6.806000	0.00053	-4.996000	0.00024	-2.199000	0.00308	ACT		0.502	DPY19L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337506.1			36	90	0	0	0	0.086207	0	36	90				
ZNF536	9745	broad.mit.edu	37	19	31040141	31040141	+	Silent	SNP	C	C	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr19:31040141C>T	ENST00000355537.3	+	4	3762	c.3615C>T	c.(3613-3615)ggC>ggT	p.G1205G		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1205					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCAGCGATGGCGGGGACAGCC	0.597																																						ENST00000355537.3																			0				NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(3613-3615)ggC>ggT		zinc finger protein 536							56.0	55.0	55.0					19																	31040141		2203	4300	6503	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31040141C>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.3615C>T	19.37:g.31040141C>T							p.G1205G	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			4	3762	+	Esophageal squamous(110;0.0834)		1205					A2RU18	Silent	SNP	ENST00000355537.3	37	c.3615C>T	CCDS32984.1																																																																																				0.597	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		32	70	0	0	0	0.050027	0	32	70				
EGFR	1956	broad.mit.edu	37	7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	rs149840192		TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr7:55221822C>T	ENST00000275493.2	+	7	1043	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_ENST00000344576.2_Missense_Mutation_p.A289V|EGFR_ENST00000454757.2_Missense_Mutation_p.A236V|EGFR_ENST00000342916.3_Missense_Mutation_p.A289V|EGFR_ENST00000420316.2_Missense_Mutation_p.A289V|EGFR_ENST00000442591.1_Missense_Mutation_p.A289V|EGFR_ENST00000455089.1_Missense_Mutation_p.A244V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.A289V(20)|p.A289D(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		23	Substitution - Missense(23)	p.A289V(20)|p.A289D(3)	central_nervous_system(23)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(865-867)gCc>gTc		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						178.0	142.0	154.0					7																	55221822		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221822C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.866C>T	7.37:g.55221822C>T	ENSP00000275493:p.Ala289Val	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000420316.2_Missense_Mutation_p.A289V|EGFR_ENST00000342916.3_Missense_Mutation_p.A289V|EGFR_ENST00000455089.1_Missense_Mutation_p.A244V|EGFR_ENST00000344576.2_Missense_Mutation_p.A289V|EGFR_ENST00000454757.2_Missense_Mutation_p.A236V|EGFR_ENST00000442591.1_Missense_Mutation_p.A289V	p.A289V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		7	1043	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		289					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.866C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	36	5.765054	0.96906	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	5.94	5.94	0.96194	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.83695	0.5310	M	0.89785	3.06	0.80722	D	1	D;D;D;D;D	0.89917	0.996;0.998;1.0;1.0;1.0	P;D;D;D;D	0.77004	0.877;0.989;0.98;0.989;0.941	D	0.86120	0.1568	10	0.87932	D	0	.	18.9232	0.92534	0.0:1.0:0.0:0.0	.	244;289;289;289;289	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	V	244;289;159;289;289;289;289;236;83	ENSP00000415559:A244V;ENSP00000342376:A289V;ENSP00000345973:A289V;ENSP00000413843:A289V;ENSP00000275493:A289V;ENSP00000410031:A289V;ENSP00000395243:A236V	ENSP00000275493:A289V	A	+	2	0	EGFR	55189316	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.794000	0.85869	2.816000	0.96949	0.563000	0.77884	GCC		0.592	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		2177	104	0	0	0	0.048971	0	2177	104				
GIMAP4	55303	broad.mit.edu	37	7	150269789	150269789	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr7:150269789C>T	ENST00000255945.2	+	3	806	c.631C>T	c.(631-633)Cgc>Tgc	p.R211C	GIMAP4_ENST00000494750.1_3'UTR|GIMAP4_ENST00000461940.1_Missense_Mutation_p.R225C	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	211	AIG1-type G.					cytosol (GO:0005829)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTGATCCAGCGCGTGGTGAG	0.542																																						ENST00000255945.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(631-633)Cgc>Tgc		GTPase, IMAP family member 4							94.0	92.0	93.0					7																	150269789		2203	4300	6503	SO:0001583	missense	55303						GTP binding	g.chr7:150269789C>T	AK001972	CCDS5904.1	7q36.1	2014-04-04			ENSG00000133574	ENSG00000133574		"""GTPases, IMAP"""	21872	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 1"""	608087				15474311, 18701445	Standard	NM_018326		Approved	HIMAP4, FLJ11110, IMAP4, IAN1	uc003whl.3	Q9NUV9	OTTHUMG00000157475	ENST00000255945.2:c.631C>T	7.37:g.150269789C>T	ENSP00000255945:p.Arg211Cys					GIMAP4_ENST00000461940.1_Missense_Mutation_p.R225C|GIMAP4_ENST00000494750.1_3'UTR	p.R211C	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	806	+			211						Missense_Mutation	SNP	ENST00000255945.2	37	c.631C>T	CCDS5904.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.953708	0.53293	.	.	ENSG00000133574	ENST00000255945;ENST00000461940;ENST00000466938	T;T	0.62232	0.04;0.04	4.82	-0.497	0.12023	AIG1 (1);	1.494340	0.03308	N	0.190043	T	0.69314	0.3097	L	0.58101	1.795	0.09310	N	1	D;D	0.76494	0.999;0.999	P;P	0.59703	0.827;0.862	T	0.51718	-0.8670	10	0.54805	T	0.06	.	3.2749	0.06894	0.453:0.3213:0.139:0.0866	.	225;211	G5E9W9;Q9NUV9	.;GIMA4_HUMAN	C	211;225;143	ENSP00000255945:R211C;ENSP00000419545:R225C	ENSP00000255945:R211C	R	+	1	0	GIMAP4	149900722	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.490000	0.00975	-0.279000	0.09167	-0.169000	0.13324	CGC		0.542	GIMAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348927.1	NM_018326		53	113	0	0	0	0.048971	0	53	113				
NAGLU	4669	broad.mit.edu	37	17	40695945	40695945	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr17:40695945A>G	ENST00000225927.2	+	6	2022	c.1921A>G	c.(1921-1923)Aac>Gac	p.N641D	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	641					carbohydrate metabolic process (GO:0005975)|cerebellar Purkinje cell layer development (GO:0021680)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inner ear receptor cell development (GO:0060119)|locomotor rhythm (GO:0045475)|lysosome organization (GO:0007040)|middle ear morphogenesis (GO:0042474)|nervous system development (GO:0007399)|retinal rod cell development (GO:0046548)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-N-acetylglucosaminidase activity (GO:0004561)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	CTACGAGCAGAACAGCCGCTA	0.627																																						ENST00000225927.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12						c.(1921-1923)Aac>Gac		N-acetylglucosaminidase, alpha	N-Acetyl-D-glucosamine(DB00141)						26.0	21.0	23.0					17																	40695945		2202	4300	6502	SO:0001583	missense	4669					lysosome	alpha-N-acetylglucosaminidase activity	g.chr17:40695945A>G		CCDS11427.1	17q21.2	2010-07-27	2010-07-27		ENSG00000108784	ENSG00000108784	3.2.1.50		7632	protein-coding gene	gene with protein product	"""Sanfilippo disease IIIB"""	609701					Standard	XM_006721920		Approved	NAG	uc002hzv.3	P54802		ENST00000225927.2:c.1921A>G	17.37:g.40695945A>G	ENSP00000225927:p.Asn641Asp					RP11-400F19.8_ENST00000585572.1_RNA	p.N641D	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.13)	6	2022	+		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)	641						Missense_Mutation	SNP	ENST00000225927.2	37	c.1921A>G	CCDS11427.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.535396	0.85812	.	.	ENSG00000108784	ENST00000225927;ENST00000377405	D	0.99232	-5.6	4.69	4.69	0.59074	Alpha-N-acetylglucosaminidase, C-terminal (1);	0.046124	0.85682	D	0.000000	D	0.99251	0.9739	M	0.75264	2.295	0.44880	D	0.997899	D	0.89917	1.0	D	0.91635	0.999	D	0.99063	1.0831	10	0.87932	D	0	-36.2993	13.4187	0.60985	1.0:0.0:0.0:0.0	.	641	P54802	ANAG_HUMAN	D	641;317	ENSP00000225927:N641D	ENSP00000225927:N641D	N	+	1	0	NAGLU	37949471	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.175000	0.77632	2.105000	0.64084	0.459000	0.35465	AAC		0.627	NAGLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450385.1	NM_000263		9	9	0	0	0	0.047766	0	9	9				
DGKD	8527	broad.mit.edu	37	2	234360660	234360660	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr2:234360660C>T	ENST00000264057.2	+	18	2230	c.2218C>T	c.(2218-2220)Cgc>Tgc	p.R740C	DGKD_ENST00000409813.3_Missense_Mutation_p.R696C	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	740					blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	AGTCATCAGTCGCCTGTTAAT	0.493																																						ENST00000264057.2																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38						c.(2218-2220)Cgc>Tgc		diacylglycerol kinase, delta 130kDa	Phosphatidylserine(DB00144)						125.0	119.0	121.0					2																	234360660		2203	4300	6503	SO:0001583	missense	8527				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr2:234360660C>T	D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2851	protein-coding gene	gene with protein product	"""diglyceride kinase"""	601826	"""diacylglycerol kinase, delta (130kD)"""			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.2218C>T	2.37:g.234360660C>T	ENSP00000264057:p.Arg740Cys					DGKD_ENST00000409813.3_Missense_Mutation_p.R696C	p.R740C	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	18	2230	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)	740					Q14158|Q6PK55|Q8NG53	Missense_Mutation	SNP	ENST00000264057.2	37	c.2218C>T	CCDS2504.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.061871	0.76187	.	.	ENSG00000077044	ENST00000264057;ENST00000409813	T;T	0.80304	-1.19;-1.36	4.69	4.69	0.59074	.	0.081755	0.53938	D	0.000053	D	0.84880	0.5570	L	0.57536	1.79	0.58432	D	0.999995	D;B;D	0.71674	0.998;0.269;0.998	P;B;P	0.58266	0.836;0.018;0.676	D	0.84314	0.0512	10	0.40728	T	0.16	.	14.9576	0.71127	0.1434:0.8566:0.0:0.0	.	624;696;740	Q53SE4;Q16760-2;Q16760	.;.;DGKD_HUMAN	C	740;696	ENSP00000264057:R740C;ENSP00000386455:R696C	ENSP00000264057:R740C	R	+	1	0	DGKD	234025399	1.000000	0.71417	0.933000	0.37362	0.988000	0.76386	2.514000	0.45503	2.546000	0.85860	0.637000	0.83480	CGC		0.493	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648		41	63	0	0	0	0.039052	0	41	63				
LETM1	3954	broad.mit.edu	37	4	1824793	1824793	+	Silent	SNP	C	C	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr4:1824793C>T	ENST00000302787.2	-	9	1694	c.1398G>A	c.(1396-1398)ctG>ctA	p.L466L		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	466					cristae formation (GO:0042407)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			GCGTGGCCTCCAGCTTGGCCT	0.632																																						ENST00000302787.2																			0				breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(1396-1398)ctG>ctA		leucine zipper-EF-hand containing transmembrane protein 1							91.0	84.0	86.0					4																	1824793		2203	4300	6503	SO:0001819	synonymous_variant	3954				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	g.chr4:1824793C>T	AF061025	CCDS3355.1	4p16.3	2013-01-10			ENSG00000168924	ENSG00000168924		"""EF-hand domain containing"""	6556	protein-coding gene	gene with protein product	"""Mdm38 homolog (yeast)"""	604407				10486213	Standard	NM_012318		Approved		uc003gdv.3	O95202	OTTHUMG00000121149	ENST00000302787.2:c.1398G>A	4.37:g.1824793C>T							p.L466L	NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)		9	1694	-			466					B4DED2|Q9UF65	Silent	SNP	ENST00000302787.2	37	c.1398G>A	CCDS3355.1																																																																																				0.632	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241634.1			44	57	0	0	0	0.039052	0	44	57				
LTBP2	4053	broad.mit.edu	37	14	74969480	74969480	+	Silent	SNP	G	G	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr14:74969480G>A	ENST00000261978.4	-	34	5432	c.5046C>T	c.(5044-5046)ccC>ccT	p.P1682P	LTBP2_ENST00000556690.1_Silent_p.P1638P	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1682					protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CGGTGTCCTCGGGGCCCAGGT	0.632																																						ENST00000261978.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(5044-5046)ccC>ccT		latent transforming growth factor beta binding protein 2							73.0	76.0	75.0					14																	74969480		2203	4300	6503	SO:0001819	synonymous_variant	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:74969480G>A		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.5046C>T	14.37:g.74969480G>A						LTBP2_ENST00000556690.1_Silent_p.P1638P	p.P1682P	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	34	5432	-			1682					Q99907|Q9NS51	Silent	SNP	ENST00000261978.4	37	c.5046C>T	CCDS9831.1																																																																																				0.632	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		59	89	0	0	0	0.048971	0	59	89				
IGHD	3495	broad.mit.edu	37	14	106311716	106311716	+	RNA	SNP	C	C	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr14:106311716C>T	ENST00000390556.2	-	0	294							P01880	IGHD_HUMAN	immunoglobulin heavy constant delta						immune response (GO:0006955)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										ACCTGGCCAGCGGAAGATCTC	0.627																																						ENST00000390556.2																			0																				57.0	55.0	56.0					14																	106311716		2116	4205	6321			0							g.chr14:106311716C>T	K02875		14q32.33	2012-03-09			ENSG00000211898	ENSG00000211898		"""Immunoglobulins / IGH locus"""	5480	other	immunoglobulin gene	"""immunoglobulin delta"", ""constant region of heavy chain of IgD"""	147170				3922054	Standard	NG_001019		Approved	FLJ00382, FLJ46727, MGC29633	uc001ysj.3	P01880	OTTHUMG00000152538		14.37:g.106311716C>T														0	294	-								Q6P4I8|Q8WU38	RNA	SNP	ENST00000390556.2	37																																																																																						0.627	IGHD-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326652.1	NG_001019		27	32	0	0	0	0.099896	0	27	32				
RNF213	57674	broad.mit.edu	37	17	78354716	78354716	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr17:78354716C>T	ENST00000582970.1	+	56	13869	c.13726C>T	c.(13726-13728)Cca>Tca	p.P4576S	RNF213_ENST00000508628.2_Missense_Mutation_p.P4625S|CTD-2047H16.4_ENST00000573394.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.P2649S|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4576					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGGGCTGCCCCCAGTGGTCTT	0.597																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(13726-13728)Cca>Tca		ring finger protein 213							207.0	217.0	213.0					17																	78354716		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78354716C>T	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.13726C>T	17.37:g.78354716C>T	ENSP00000464087:p.Pro4576Ser					CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.P4625S|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.P2649S	p.P4576S	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		56	13869	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.13726C>T	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.112421	0.56398	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.26223	1.75	5.26	5.26	0.73747	.	0.136153	0.49305	D	0.000153	T	0.50616	0.1626	M	0.71296	2.17	0.37961	D	0.93298	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.973	T	0.50466	-0.8825	10	0.39692	T	0.17	.	17.2359	0.86998	0.0:1.0:0.0:0.0	.	4625;2649	C9JCP4;Q63HN8	.;RN213_HUMAN	S	4576;4625;2649	ENSP00000338218:P2649S	ENSP00000338218:P2649S	P	+	1	0	RNF213	75969311	0.978000	0.34361	0.867000	0.34043	0.066000	0.16364	6.106000	0.71511	2.728000	0.93425	0.655000	0.94253	CCA		0.597	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		139	237	0	0	0	0.048971	0	139	237				
OR4X1	390113	broad.mit.edu	37	11	48286042	48286042	+	Silent	SNP	C	C	T	rs200969185		TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr11:48286042C>T	ENST00000320048.1	+	1	630	c.630C>T	c.(628-630)ttC>ttT	p.F210F		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	210						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						TCAGTTTCTTCGTGCTGATGG	0.562													c|||	1	0.000199681	0.0008	0.0	5008	,	,		18389	0.0		0.0	False		,,,				2504	0.0					ENST00000320048.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						c.(628-630)ttC>ttT		olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)							133.0	106.0	115.0					11																	48286042		2201	4298	6499	SO:0001819	synonymous_variant	390113				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48286042C>T	AB065544	CCDS31487.1	11p11.2	2013-10-10	2013-10-10		ENSG00000176567	ENSG00000176567		"""GPCR / Class A : Olfactory receptors"""	14854	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily X, member 1"""				Standard	NM_001004726		Approved		uc010rht.2	Q8NH49	OTTHUMG00000165301	ENST00000320048.1:c.630C>T	11.37:g.48286042C>T							p.F210F	NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN			1	630	+			210					Q6IF74	Silent	SNP	ENST00000320048.1	37	c.630C>T	CCDS31487.1																																																																																				0.562	OR4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383373.1	NM_001004726		30	39	0	0	0	0.045705	0	30	39				
RASGRF2	5924	broad.mit.edu	37	5	80382758	80382758	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr5:80382758C>T	ENST00000265080.4	+	9	1443	c.1376C>T	c.(1375-1377)aCg>aTg	p.T459M	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	459					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		ACCAGCCAAACGTTCATCCGC	0.532																																						ENST00000265080.4																			0				biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(1375-1377)aCg>aTg		Ras protein-specific guanine nucleotide-releasing factor 2							145.0	127.0	133.0					5																	80382758		2203	4300	6503	SO:0001583	missense	5924				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr5:80382758C>T	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.1376C>T	5.37:g.80382758C>T	ENSP00000265080:p.Thr459Met					RASGRF2_ENST00000502677.1_3'UTR	p.T459M	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	9	1443	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	459					B9EG89|Q9UK56	Missense_Mutation	SNP	ENST00000265080.4	37	c.1376C>T	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.896445	0.72639	.	.	ENSG00000113319	ENST00000265080	T	0.31247	1.5	5.72	5.72	0.89469	Pleckstrin homology-type (1);	0.105633	0.64402	D	0.000004	T	0.39118	0.1066	M	0.73962	2.25	0.80722	D	1	P;P	0.48294	0.908;0.653	B;B	0.40375	0.327;0.089	T	0.34229	-0.9837	10	0.38643	T	0.18	.	19.8765	0.96875	0.0:1.0:0.0:0.0	.	459;459	D6RAS9;O14827	.;RGRF2_HUMAN	M	459	ENSP00000265080:T459M	ENSP00000265080:T459M	T	+	2	0	RASGRF2	80418514	1.000000	0.71417	0.548000	0.28192	0.978000	0.69477	7.818000	0.86416	2.695000	0.91970	0.650000	0.86243	ACG		0.532	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		37	62	0	0	0	0.064281	0	37	62				
MYH8	4626	broad.mit.edu	37	17	10297737	10297737	+	Silent	SNP	C	C	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr17:10297737C>T	ENST00000403437.2	-	35	5089	c.4995G>A	c.(4993-4995)cgG>cgA	p.R1665R	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1665					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CCTCCTGGCCCCGGAGAGCAT	0.532									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(4993-4995)cgG>cgA		myosin, heavy chain 8, skeletal muscle, perinatal							63.0	60.0	61.0					17																	10297737		2203	4300	6503	SO:0001819	synonymous_variant	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10297737C>T		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.4995G>A	17.37:g.10297737C>T						CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.R1665R	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			35	5089	-			1665					Q14910	Silent	SNP	ENST00000403437.2	37	c.4995G>A	CCDS11153.1																																																																																				0.532	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		30	39	0	0	0	0.034045	0	30	39				
CHRDL1	91851	broad.mit.edu	37	X	110002887	110002887	+	Splice_Site	SNP	A	A	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chrX:110002887A>T	ENST00000372045.1	-	4	415		c.e4+1		CHRDL1_ENST00000434224.1_Splice_Site|CHRDL1_ENST00000482160.1_Splice_Site|CHRDL1_ENST00000444321.2_Splice_Site|CHRDL1_ENST00000218054.4_Splice_Site|CHRDL1_ENST00000394797.4_Splice_Site|CHRDL1_ENST00000372042.1_Splice_Site			Q9BU40	CRDL1_HUMAN	chordin-like 1						BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|compound eye development (GO:0048749)|eye development (GO:0001654)|negative regulation of BMP signaling pathway (GO:0030514)|nervous system development (GO:0007399)|ossification (GO:0001503)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						AAATTGCTTTACCTGGGCAGC	0.473																																						ENST00000218054.4																			0				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						c.e4+1		chordin-like 1							166.0	144.0	151.0					X																	110002887		2203	4300	6503	SO:0001630	splice_region_variant	91851				BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region		g.chrX:110002887A>T	AL049176	CCDS14553.1, CCDS48148.1, CCDS48149.1, CCDS48150.1, CCDS48148.2	Xq23	2014-01-31			ENSG00000101938	ENSG00000101938			29861	protein-coding gene	gene with protein product		300350	"""megalocornea 1 (X-linked)"""	MGC1		11441185, 11118896, 22284829	Standard	NM_001143981		Approved	NRLN1, CHL	uc004eow.3	Q9BU40	OTTHUMG00000022199	ENST00000372045.1:c.283+1T>A	X.37:g.110002887A>T						CHRDL1_ENST00000482160.1_Splice_Site|CHRDL1_ENST00000372045.1_Splice_Site|CHRDL1_ENST00000444321.2_Splice_Site|CHRDL1_ENST00000394797.4_Splice_Site|CHRDL1_ENST00000372042.1_Splice_Site|CHRDL1_ENST00000434224.1_Splice_Site		NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN			4	498	-								B1AKD0|B4DMP3|D3DUY6|E9PGS5|Q539E4|Q9Y3H7	Splice_Site	SNP	ENST00000372045.1	37			.	.	.	.	.	.	.	.	.	.	A	18.36	3.606596	0.66445	.	.	ENSG00000101938	ENST00000372045;ENST00000434224;ENST00000218054;ENST00000394797;ENST00000372042;ENST00000482160;ENST00000444321	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8986	0.63787	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CHRDL1	109889543	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	6.045000	0.71020	2.088000	0.63022	0.486000	0.48141	.		0.473	CHRDL1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057912.1	NM_145234	Intron	83	18	0	0	0	0.048971	0	83	18				
DDX56	54606	broad.mit.edu	37	7	44608558	44608558	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr7:44608558G>A	ENST00000258772.5	-	11	1433	c.1327C>T	c.(1327-1329)Cgg>Tgg	p.R443W	DDX56_ENST00000431640.1_Missense_Mutation_p.R403W|DDX56_ENST00000485367.1_5'UTR	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	443					ATP catabolic process (GO:0006200)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)	p.R443R(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						CTTGCCTCCCGAATGGCCTGC	0.537																																						ENST00000258772.5																			1	Substitution - coding silent(1)	p.R443R(1)	lung(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						c.(1327-1329)Cgg>Tgg		DEAD (Asp-Glu-Ala-Asp) box helicase 56							177.0	149.0	159.0					7																	44608558		2203	4300	6503	SO:0001583	missense	54606				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding	g.chr7:44608558G>A	AJ131712	CCDS5492.1, CCDS59053.1	7p13	2012-02-23	2012-02-23		ENSG00000136271	ENSG00000136271		"""DEAD-boxes"""	18193	protein-coding gene	gene with protein product	"""nucleolar helicase of 61 kDa"""	608023	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 56"""			10749921	Standard	NM_019082		Approved	NOH61	uc003tlg.4	Q9NY93	OTTHUMG00000129211	ENST00000258772.5:c.1327C>T	7.37:g.44608558G>A	ENSP00000258772:p.Arg443Trp					DDX56_ENST00000431640.1_Missense_Mutation_p.R403W|DDX56_ENST00000485367.1_5'UTR	p.R443W	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN			11	1433	-			443					A4D2K9|C9JV95|Q6IAE2|Q9H9I8	Missense_Mutation	SNP	ENST00000258772.5	37	c.1327C>T	CCDS5492.1	.	.	.	.	.	.	.	.	.	.	.	18.99	3.738849	0.69304	.	.	ENSG00000136271	ENST00000258772;ENST00000431640;ENST00000448192	T;T	0.04809	3.55;3.56	5.44	1.48	0.22813	.	0.286554	0.36591	N	0.002510	T	0.14700	0.0355	M	0.79475	2.455	0.20926	N	0.999826	D;D	0.76494	0.999;0.999	D;D	0.66847	0.947;0.945	T	0.04333	-1.0959	10	0.87932	D	0	-14.9212	4.5359	0.12028	0.1648:0.0:0.3815:0.4537	.	403;443	C9JV95;Q9NY93	.;DDX56_HUMAN	W	443;403;48	ENSP00000258772:R443W;ENSP00000393488:R403W	ENSP00000258772:R443W	R	-	1	2	DDX56	44575083	0.993000	0.37304	0.709000	0.30452	0.997000	0.91878	3.880000	0.56145	0.327000	0.23409	0.655000	0.94253	CGG		0.537	DDX56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251291.1	NM_019082		66	191	0	0	0	0.048971	0	66	191				
NDN	4692	broad.mit.edu	37	15	23932258	23932258	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr15:23932258G>A	ENST00000331837.4	-	1	192	c.107C>T	c.(106-108)gCg>gTg	p.A36V		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	36					axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		TGCCAGGGTCGCGGACGGAGG	0.701									Prader-Willi syndrome																													ENST00000331837.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39						c.(106-108)gCg>gTg		necdin, melanoma antigen (MAGE) family member							10.0	11.0	10.0					15																	23932258		1706	3364	5070	SO:0001583	missense	4692	Prader-Willi syndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	g.chr15:23932258G>A	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"""Prader-Willi syndrome chromosome region"""	602117	"""necdin (mouse) homolog"", ""necdin homolog (mouse)"""			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.107C>T	15.37:g.23932258G>A	ENSP00000332643:p.Ala36Val						p.A36V	NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)	1	192	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)	36					B2R6Z5	Missense_Mutation	SNP	ENST00000331837.4	37	c.107C>T	CCDS10014.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.011061	0.54361	.	.	ENSG00000182636	ENST00000331837	T	0.02280	4.36	3.75	1.79	0.24919	.	0.628366	0.14283	N	0.329415	T	0.01320	0.0043	N	0.08118	0	0.09310	N	1	P	0.35551	0.509	B	0.26310	0.068	T	0.51521	-0.8695	10	0.36615	T	0.2	.	11.4161	0.49954	0.0:0.0:0.6877:0.3123	.	36	Q99608	NECD_HUMAN	V	36	ENSP00000332643:A36V	ENSP00000332643:A36V	A	-	2	0	NDN	21483351	0.025000	0.19082	0.015000	0.15790	0.001000	0.01503	0.702000	0.25631	0.024000	0.15214	-2.960000	0.00083	GCG		0.701	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251226.2	NM_002487		11	15	0	0	0	0.069234	0	11	15				
KEL	3792	broad.mit.edu	37	7	142655048	142655048	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr7:142655048G>A	ENST00000355265.2	-	6	1012	c.538C>T	c.(538-540)Cgc>Tgc	p.R180C	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	180			R -> P (in KEL24 antigen).		vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CCAGAGATGCGCCAGCCTCCA	0.517																																						ENST00000355265.2																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60						c.(538-540)Cgc>Tgc		Kell blood group, metallo-endopeptidase							60.0	53.0	55.0					7																	142655048		2203	4300	6503	SO:0001583	missense	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142655048G>A	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.538C>T	7.37:g.142655048G>A	ENSP00000347409:p.Arg180Cys					KEL_ENST00000479768.2_5'UTR	p.R180C	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN			6	1012	-	Melanoma(164;0.059)		180		R -> P (in KEL24 antigen).			B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.538C>T	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.978891	0.53827	.	.	ENSG00000197993	ENST00000355265;ENST00000467543	D;D	0.82433	-1.61;-1.61	5.8	-4.44	0.03557	Peptidase M13 (1);	1.539120	0.04028	N	0.300949	T	0.80829	0.4698	L	0.54323	1.7	0.22017	N	0.999413	D	0.63046	0.992	P	0.51229	0.663	T	0.71174	-0.4670	10	0.72032	D	0.01	1.2927	1.9862	0.03436	0.2093:0.0947:0.2227:0.4734	.	180	P23276	KELL_HUMAN	C	180;161	ENSP00000347409:R180C;ENSP00000420011:R161C	ENSP00000347409:R180C	R	-	1	0	KEL	142365170	0.003000	0.15002	0.003000	0.11579	0.790000	0.44656	-0.409000	0.07160	-0.907000	0.03862	-0.142000	0.14014	CGC		0.517	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		17	44	0	0	0	0.033300	0	17	44				
VCAM1	7412	broad.mit.edu	37	1	101198155	101198155	+	Silent	SNP	A	A	G			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr1:101198155A>G	ENST00000294728.2	+	7	1808	c.1707A>G	c.(1705-1707)acA>acG	p.T569T	VCAM1_ENST00000370115.1_Silent_p.T370T|VCAM1_ENST00000370119.4_Silent_p.T507T|VCAM1_ENST00000347652.2_Silent_p.T477T	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	569	Ig-like C2-type 6.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	TAATTTCTACAAAAATGGAAG	0.458																																						ENST00000294728.2																			0				central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1705-1707)acA>acG		vascular cell adhesion molecule 1	Carvedilol(DB01136)						55.0	60.0	58.0					1																	101198155		2201	4300	6501	SO:0001819	synonymous_variant	7412				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	g.chr1:101198155A>G	M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.1707A>G	1.37:g.101198155A>G						VCAM1_ENST00000347652.2_Silent_p.T477T|VCAM1_ENST00000370115.1_Silent_p.T370T|VCAM1_ENST00000370119.4_Silent_p.T507T	p.T569T	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	7	1808	+		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)	569			Ig-like C2-type 6.		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Silent	SNP	ENST00000294728.2	37	c.1707A>G	CCDS773.1																																																																																				0.458	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078		37	50	0	0	0	0.069456	0	37	50				
DHRS2	10202	broad.mit.edu	37	14	24109024	24109024	+	Missense_Mutation	SNP	G	G	A	rs146408773		TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr14:24109024G>A	ENST00000250383.6	+	4	816	c.340G>A	c.(340-342)Gtc>Atc	p.V114I	DHRS2_ENST00000553896.1_3'UTR|DHRS2_ENST00000344777.7_Missense_Mutation_p.V114I	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	114					C21-steroid hormone metabolic process (GO:0008207)|cellular response to oxidative stress (GO:0034599)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	carbonyl reductase (NADPH) activity (GO:0004090)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		CTGTGGGGGCGTCGACTTCCT	0.642													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18413	0.0		0.0	False		,,,				2504	0.0					ENST00000250383.6																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(340-342)Gtc>Atc		dehydrogenase/reductase (SDR family) member 2		G	ILE/VAL,ILE/VAL	1,4405		0,1,2202	59.0	58.0	58.0		340,340	-3.3	0.0	14	dbSNP_134	58	0,8600		0,0,4300	no	missense,missense	DHRS2	NM_182908.4,NM_005794.3	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	114/301,114/281	24109024	1,13005	2203	4300	6503	SO:0001583	missense	10202				C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity	g.chr14:24109024G>A		CCDS9604.1, CCDS41927.1	14q11.2	2011-09-14			ENSG00000100867	ENSG00000100867		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	18349	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 1"""	615194				7556196, 11944995, 16685466, 19027726	Standard	NM_182908		Approved	HEP27, SDR25C1	uc001wkt.4	Q13268	OTTHUMG00000028771	ENST00000250383.6:c.340G>A	14.37:g.24109024G>A	ENSP00000250383:p.Val114Ile					DHRS2_ENST00000553896.1_3'UTR|DHRS2_ENST00000344777.7_Missense_Mutation_p.V114I	p.V114I	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN		GBM - Glioblastoma multiforme(265;0.00659)	4	816	+			92					D3DS54|Q53GS4|Q7Z789|Q9H2R2	Missense_Mutation	SNP	ENST00000250383.6	37	c.340G>A	CCDS9604.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.202|0.202	-1.043678|-1.043678	0.01997|0.01997	2.27E-4|2.27E-4	0.0|0.0	ENSG00000100867|ENSG00000100867	ENST00000557535|ENST00000432832;ENST00000250383;ENST00000344777;ENST00000553600	.|T;T;T;T	.|0.18657	.|2.2;2.2;2.2;2.2	4.55|4.55	-3.26|-3.26	0.05064|0.05064	.|NAD(P)-binding domain (1);	.|0.739218	.|0.12918	.|N	.|0.428420	T|T	0.06050|0.06050	0.0157|0.0157	N|N	0.04275|0.04275	-0.24|-0.24	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.15473	.|0.0;0.0;0.013;0.012	.|B;B;B;B	.|0.12837	.|0.002;0.002;0.006;0.008	T|T	0.38564|0.38564	-0.9655|-0.9655	5|10	.|0.02654	.|T	.|1	.|.	6.3593|6.3593	0.21419|0.21419	0.5256:0.1426:0.3317:0.0|0.5256:0.1426:0.3317:0.0	.|.	.|92;114;114;92	.|Q13268;C9JZP6;D3DS54;Q13268-2	.|DHRS2_HUMAN;.;.;.	H|I	29|114;114;114;14	.|ENSP00000401213:V114I;ENSP00000250383:V114I;ENSP00000344674:V114I;ENSP00000451485:V14I	.|ENSP00000250383:V114I	R|V	+|+	2|1	0|0	DHRS2|DHRS2	23178864|23178864	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-0.169000|-0.169000	0.09911|0.09911	-0.620000|-0.620000	0.05641|0.05641	-0.742000|-0.742000	0.03525|0.03525	CGT|GTC		0.642	DHRS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000071842.2	NM_182908		33	40	0	0	0	0.064281	0	33	40				
IRX1	79192	broad.mit.edu	37	5	3599597	3599597	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr5:3599597G>A	ENST00000302006.3	+	2	587	c.535G>A	c.(535-537)Gcc>Acc	p.A179T	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	179					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CACCTGGTTCGCCAACGCGCG	0.622																																						ENST00000302006.3																			0				biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(535-537)Gcc>Acc		iroquois homeobox 1							125.0	102.0	109.0					5																	3599597		2203	4300	6503	SO:0001583	missense	79192					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:3599597G>A	U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"""Homeoboxes / TALE class"""	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.535G>A	5.37:g.3599597G>A	ENSP00000305244:p.Ala179Thr					CTD-2012M11.3_ENST00000559410.1_RNA	p.A179T	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN			2	587	+			179					Q7Z2F8|Q8N312	Missense_Mutation	SNP	ENST00000302006.3	37	c.535G>A	CCDS34132.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.563253	0.86335	.	.	ENSG00000170549	ENST00000302006	D	0.91521	-2.86	4.71	3.83	0.44106	Homeodomain-related (1);Homeobox (2);Homeobox KN domain (1);Homeodomain-like (1);Homeobox, conserved site (1);	0.108336	0.64402	D	0.000008	D	0.92564	0.7638	L	0.39514	1.22	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.92859	0.6304	10	0.72032	D	0.01	.	14.4256	0.67212	0.0:0.149:0.851:0.0	.	179	P78414	IRX1_HUMAN	T	179	ENSP00000305244:A179T	ENSP00000305244:A179T	A	+	1	0	IRX1	3652597	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.517000	0.98020	0.925000	0.37094	-0.175000	0.13238	GCC		0.622	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	NM_024337		41	67	0	0	0	0.039052	0	41	67				
COL14A1	7373	broad.mit.edu	37	8	121238908	121238908	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr8:121238908C>T	ENST00000297848.3	+	16	2177	c.1907C>T	c.(1906-1908)aCg>aTg	p.T636M	COL14A1_ENST00000247781.3_Missense_Mutation_p.T541M|COL14A1_ENST00000309791.4_Missense_Mutation_p.T636M|COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GATGAGGTGACGACAGACAGT	0.483																																						ENST00000297848.3																			0				NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.(1906-1908)aCg>aTg		collagen, type XIV, alpha 1							95.0	86.0	89.0					8																	121238908		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121238908C>T		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.1907C>T	8.37:g.121238908C>T	ENSP00000297848:p.Thr636Met					COL14A1_ENST00000309791.4_Missense_Mutation_p.T636M|COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.T541M|COL14A1_ENST00000432943.2_3'UTR	p.T636M	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		16	2177	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		636		T -> A (in dbSNP:rs56815167).	Fibronectin type-III 5.			Missense_Mutation	SNP	ENST00000297848.3	37	c.1907C>T	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.568018	0.45798	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	T;T;T;T	0.60920	0.15;0.15;0.15;0.15	5.63	3.62	0.41486	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.549752	0.18638	N	0.135373	T	0.61060	0.2317	M	0.82517	2.595	0.80722	D	1	B;B	0.22851	0.076;0.036	B;B	0.19946	0.027;0.015	T	0.59783	-0.7389	10	0.59425	D	0.04	.	12.8014	0.57588	0.4222:0.5778:0.0:0.0	.	636;636	Q05707-2;Q05707	.;COEA1_HUMAN	M	636;636;541;449	ENSP00000311809:T636M;ENSP00000297848:T636M;ENSP00000247781:T541M;ENSP00000409461:T449M	ENSP00000247781:T541M	T	+	2	0	COL14A1	121308089	0.997000	0.39634	1.000000	0.80357	0.989000	0.77384	1.518000	0.35877	0.512000	0.28257	0.557000	0.71058	ACG		0.483	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		23	39	0	0	0	0.069288	0	23	39				
ZNF331	55422	broad.mit.edu	37	19	54074900	54074900	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr19:54074900G>A	ENST00000253144.9	+	6	1385	c.52G>A	c.(52-54)Gag>Aag	p.E18K	ZNF331_ENST00000511154.1_Missense_Mutation_p.E18K|ZNF331_ENST00000511593.2_Missense_Mutation_p.E18K|ZNF331_ENST00000411977.2_Missense_Mutation_p.E18K|ZNF331_ENST00000449416.1_Missense_Mutation_p.E18K|ZNF331_ENST00000512387.1_Missense_Mutation_p.E18K|ZNF331_ENST00000513999.1_Missense_Mutation_p.E18K|ZNF331_ENST00000513265.1_Missense_Mutation_p.E18K	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	18	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		CTTTTCTCAGGAGGAGTGGGC	0.517			T	?	follicular thyroid adenoma																																	ENST00000253144.9				Dom	yes		19	19q13.3-q13.4	55422	T	zinc finger protein 331			E	?		follicular thyroid adenoma		0				NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10						c.(52-54)Gag>Aag		zinc finger protein 331							303.0	290.0	294.0					19																	54074900		2203	4300	6503	SO:0001583	missense	55422				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:54074900G>A	AF251515	CCDS33102.1	19q13	2013-12-10				ENSG00000130844		"""Zinc fingers, C2H2-type"", ""-"""	15489	protein-coding gene	gene with protein product	"""rearranged in thyroid adenomas"""	606043					Standard	NM_001079906		Approved	RITA, ZNF463, ZNF361	uc021uzh.1	Q9NQX6		ENST00000253144.9:c.52G>A	19.37:g.54074900G>A	ENSP00000253144:p.Glu18Lys					ZNF331_ENST00000449416.1_Missense_Mutation_p.E18K|ZNF331_ENST00000411977.2_Missense_Mutation_p.E18K|ZNF331_ENST00000512387.1_Missense_Mutation_p.E18K|ZNF331_ENST00000513999.1_Missense_Mutation_p.E18K|ZNF331_ENST00000511593.2_Missense_Mutation_p.E18K|ZNF331_ENST00000513265.1_Missense_Mutation_p.E18K|ZNF331_ENST00000511154.1_Missense_Mutation_p.E18K	p.E18K	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN		GBM - Glioblastoma multiforme(134;0.00555)	6	1385	+			18			KRAB.		Q96GJ4	Missense_Mutation	SNP	ENST00000253144.9	37	c.52G>A	CCDS33102.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.326044	0.81580	.	.	ENSG00000130844	ENST00000253144;ENST00000511593;ENST00000502248;ENST00000449416;ENST00000514374;ENST00000411977;ENST00000511154;ENST00000509047;ENST00000509585;ENST00000513999;ENST00000512387;ENST00000511567;ENST00000514022;ENST00000505949;ENST00000513265;ENST00000502616;ENST00000504493;ENST00000505426	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.03607	3.87;3.87;3.87;3.87;3.87;3.87;3.87;3.87;3.87;3.87;3.87;3.87;3.87;3.87;3.87;3.87;3.87;3.87	4.08	4.08	0.47627	Krueppel-associated box (4);	.	.	.	.	T	0.20047	0.0482	M	0.85777	2.775	0.29239	N	0.872725	D	0.69078	0.997	D	0.79108	0.992	T	0.01617	-1.1311	9	0.56958	D	0.05	.	13.8063	0.63233	0.0:0.0:1.0:0.0	.	18	Q9NQX6	ZN331_HUMAN	K	18	ENSP00000253144:E18K;ENSP00000427439:E18K;ENSP00000423675:E18K;ENSP00000393817:E18K;ENSP00000424835:E18K;ENSP00000393336:E18K;ENSP00000421014:E18K;ENSP00000423263:E18K;ENSP00000426155:E18K;ENSP00000423156:E18K;ENSP00000421728:E18K;ENSP00000426127:E18K;ENSP00000422471:E18K;ENSP00000427532:E18K;ENSP00000426458:E18K;ENSP00000422586:E18K;ENSP00000425517:E18K;ENSP00000424929:E18K	ENSP00000253144:E18K	E	+	1	0	ZNF331	58766712	0.979000	0.34478	1.000000	0.80357	0.985000	0.73830	1.773000	0.38563	2.124000	0.65301	0.655000	0.94253	GAG		0.517	ZNF331-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371366.1	NM_018555		183	475	0	0	0	0.048971	0	183	475				
DOCK4	9732	broad.mit.edu	37	7	111634282	111634282	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr7:111634282A>G	ENST00000437633.1	-	5	479	c.223T>C	c.(223-225)Ttt>Ctt	p.F75L	DOCK4_ENST00000428084.1_Missense_Mutation_p.F75L|DOCK4_ENST00000476846.1_5'UTR	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	75					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				ACCATTTCAAATTGTCTGTGA	0.308																																						ENST00000428084.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.(223-225)Ttt>Ctt		dedicator of cytokinesis 4							109.0	101.0	104.0					7																	111634282		1805	4063	5868	SO:0001583	missense	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111634282A>G		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.223T>C	7.37:g.111634282A>G	ENSP00000404179:p.Phe75Leu					DOCK4_ENST00000437633.1_Missense_Mutation_p.F75L|DOCK4_ENST00000476846.1_5'UTR	p.F75L			Q8N1I0	DOCK4_HUMAN			5	495	-		Acute lymphoblastic leukemia(1;0.0441)	75					O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	c.223T>C	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	A	13.56	2.274348	0.40194	.	.	ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250	T;T	0.02763	4.17;4.17	5.68	4.53	0.55603	Src homology-3 domain (1);	0.149809	0.64402	N	0.000008	T	0.03871	0.0109	L	0.53249	1.67	0.80722	D	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.002;0.003;0.002	T	0.40850	-0.9541	10	0.30854	T	0.27	.	9.3333	0.38034	0.9191:0.0:0.0809:0.0	.	75;75;75	A4D0S8;Q149N5;Q8N1I0	.;.;DOCK4_HUMAN	L	63;75;75;63;74	ENSP00000410746:F75L;ENSP00000404179:F75L	ENSP00000345432:F63L	F	-	1	0	DOCK4	111421518	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.862000	0.92283	0.990000	0.38787	0.533000	0.62120	TTT		0.308	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		34	82	0	0	0	0.054565	0	34	82				
COLEC12	81035	broad.mit.edu	37	18	346546	346546	+	Missense_Mutation	SNP	G	G	A	rs568456291		TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr18:346546G>A	ENST00000400256.3	-	5	1283	c.1076C>T	c.(1075-1077)aCg>aTg	p.T359M		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	359					carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GCTGGTCAGCGTCCGCAGGTG	0.473													G|||	1	0.000199681	0.0	0.0014	5008	,	,		22139	0.0		0.0	False		,,,				2504	0.0					ENST00000400256.3																			0				cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46						c.(1075-1077)aCg>aTg		collectin sub-family member 12							191.0	158.0	169.0					18																	346546		2203	4300	6503	SO:0001583	missense	81035				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity	g.chr18:346546G>A	AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"""Collectins"""	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.1076C>T	18.37:g.346546G>A	ENSP00000383115:p.Thr359Met						p.T359M	NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN			5	1283	-		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)	359					Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	ENST00000400256.3	37	c.1076C>T	CCDS32782.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.499693	0.44455	.	.	ENSG00000158270	ENST00000400256	T	0.78481	-1.18	5.86	4.98	0.66077	.	0.141045	0.64402	D	0.000004	T	0.73313	0.3571	L	0.27053	0.805	0.45634	D	0.998568	D	0.63046	0.992	P	0.47528	0.549	T	0.77464	-0.2578	10	0.66056	D	0.02	-12.8451	17.0222	0.86437	0.0:0.1273:0.8727:0.0	.	359	Q5KU26	COL12_HUMAN	M	359	ENSP00000383115:T359M	ENSP00000383115:T359M	T	-	2	0	COLEC12	336546	1.000000	0.71417	0.994000	0.49952	0.947000	0.59692	5.357000	0.66058	1.467000	0.48044	-0.176000	0.13171	ACG		0.473	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1			35	42	0	0	0	0.054565	0	35	42				
MPO	4353	broad.mit.edu	37	17	56355470	56355470	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr17:56355470C>T	ENST00000225275.3	-	7	1098	c.922G>A	c.(922-924)Gac>Aac	p.D308N	MPO_ENST00000578493.1_5'UTR|MPO_ENST00000340482.3_Missense_Mutation_p.D340N	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	308					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	GGGATGCAGTCGGCTTGGTTC	0.622																																						ENST00000340482.3																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46						c.(1018-1020)Gac>Aac		myeloperoxidase	Cefdinir(DB00535)						89.0	83.0	85.0					17																	56355470		2203	4300	6503	SO:0001583	missense	4353				anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity	g.chr17:56355470C>T		CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.922G>A	17.37:g.56355470C>T	ENSP00000225275:p.Asp308Asn					MPO_ENST00000225275.3_Missense_Mutation_p.D308N|MPO_ENST00000578493.1_5'UTR	p.D340N			P05164	PERM_HUMAN			6	1194	-			308					A1L4B8|Q14862|Q4PJH5|Q9UCL7	Missense_Mutation	SNP	ENST00000225275.3	37	c.1018G>A	CCDS11604.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.133546	0.77662	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	T;T	0.72615	-0.67;-0.67	5.32	5.32	0.75619	.	0.000000	0.64402	D	0.000005	D	0.82522	0.5055	M	0.61703	1.905	0.48236	D	0.99961	D	0.89917	1.0	D	0.97110	1.0	T	0.82110	-0.0619	10	0.45353	T	0.12	-39.0717	18.0012	0.89198	0.0:1.0:0.0:0.0	.	308	P05164	PERM_HUMAN	N	340;308	ENSP00000344419:D340N;ENSP00000225275:D308N	ENSP00000225275:D308N	D	-	1	0	MPO	53710469	0.990000	0.36364	0.950000	0.38849	0.937000	0.57800	3.206000	0.51098	2.518000	0.84900	0.561000	0.74099	GAC		0.622	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1			34	66	0	0	0	0.074837	0	34	66				
BZRAP1	9256	broad.mit.edu	37	17	56402928	56402928	+	Silent	SNP	C	C	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr17:56402928C>T	ENST00000343736.4	-	4	880	c.717G>A	c.(715-717)agG>agA	p.R239R	BZRAP1_ENST00000268893.6_Intron|BZRAP1_ENST00000355701.3_Silent_p.R239R|BZRAP1-AS1_ENST00000579527.1_RNA			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	239						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCTGCAGCTCCCTGCACTCCC	0.657																																						ENST00000355701.3																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(715-717)agG>agA		benzodiazapine receptor (peripheral) associated protein 1							40.0	40.0	40.0					17																	56402928		2203	4300	6503	SO:0001819	synonymous_variant	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56402928C>T	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.717G>A	17.37:g.56402928C>T						BZRAP1_ENST00000268893.6_Intron|BZRAP1_ENST00000343736.4_Silent_p.R239R|BZRAP1-AS1_ENST00000579527.1_RNA	p.R239R	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN			4	1587	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		239					O75111|Q8N5W3	Silent	SNP	ENST00000343736.4	37	c.717G>A	CCDS11605.1																																																																																				0.657	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		25	26	0	0	0	0.099896	0	25	26				
DUSP5	1847	broad.mit.edu	37	10	112262482	112262482	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr10:112262482G>A	ENST00000369583.3	+	2	667	c.383G>A	c.(382-384)gGa>gAa	p.G128E		NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	128	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				endoderm formation (GO:0001706)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		TTTGTAGGGGGATATGAGACT	0.408																																						ENST00000369583.3																			0				kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13						c.(382-384)gGa>gAa		dual specificity phosphatase 5							90.0	91.0	91.0					10																	112262482		2203	4300	6503	SO:0001583	missense	1847				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr10:112262482G>A	U16996	CCDS7566.1	10q25	2011-06-09			ENSG00000138166	ENSG00000138166		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3071	protein-coding gene	gene with protein product		603069				7806236	Standard	NM_004419		Approved	HVH3	uc001kzd.3	Q16690	OTTHUMG00000019040	ENST00000369583.3:c.383G>A	10.37:g.112262482G>A	ENSP00000358596:p.Gly128Glu						p.G128E	NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)	2	667	+		Breast(234;0.0848)	128			Rhodanese.		Q12997|Q5T603	Missense_Mutation	SNP	ENST00000369583.3	37	c.383G>A	CCDS7566.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.956708	0.92726	.	.	ENSG00000138166	ENST00000369583	T	0.80994	-1.44	6.02	6.02	0.97574	Rhodanese-like (5);	0.000000	0.85682	D	0.000000	D	0.91280	0.7251	M	0.85462	2.755	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91640	0.5326	10	0.87932	D	0	.	19.5352	0.95251	0.0:0.0:1.0:0.0	.	128	Q16690	DUS5_HUMAN	E	128	ENSP00000358596:G128E	ENSP00000358596:G128E	G	+	2	0	DUSP5	112252472	1.000000	0.71417	0.880000	0.34516	0.928000	0.56348	9.231000	0.95317	2.850000	0.98022	0.650000	0.86243	GGA		0.408	DUSP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050333.1	NM_004419		42	19	0	0	0	0.111260	0	42	19				
SYK	6850	broad.mit.edu	37	9	93606246	93606246	+	Silent	SNP	G	G	A	rs139401525		TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr9:93606246G>A	ENST00000375754.4	+	2	214	c.66G>A	c.(64-66)cgG>cgA	p.R22R	SYK_ENST00000476708.1_3'UTR|SYK_ENST00000375751.4_Silent_p.R22R|SYK_ENST00000375746.1_Silent_p.R22R|SYK_ENST00000375747.1_Silent_p.R22R	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	22	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of JUN kinase activity (GO:0007257)|adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|B cell receptor signaling pathway (GO:0050853)|beta selection (GO:0043366)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|cell proliferation (GO:0008283)|cellular response to molecule of fungal origin (GO:0071226)|defense response to bacterium (GO:0042742)|enzyme linked receptor protein signaling pathway (GO:0007167)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte activation involved in immune response (GO:0002366)|leukocyte cell-cell adhesion (GO:0007159)|leukotriene biosynthetic process (GO:0019370)|lymph vessel development (GO:0001945)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of bone resorption (GO:0045780)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of arachidonic acid secretion (GO:0090237)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of neutrophil degranulation (GO:0043313)|regulation of phagocytosis (GO:0050764)|regulation of platelet activation (GO:0010543)|regulation of platelet aggregation (GO:0090330)|regulation of superoxide anion generation (GO:0032928)|serotonin secretion by platelet (GO:0002554)|viral process (GO:0016032)	B cell receptor complex (GO:0019815)|cytosol (GO:0005829)|early phagosome (GO:0032009)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|integrin binding (GO:0005178)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						ACATCACCCGGGAGGAGGCAG	0.632			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""								G|||	1	0.000199681	0.0008	0.0	5008	,	,		17978	0.0		0.0	False		,,,				2504	0.0					ENST00000375754.4				Dom	yes		9	9q22	6850	T	spleen tyrosine kinase			L	"""ETV6, ITK"""		"""MDS, peripheral T-cell lymphoma"""		0				breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						c.(64-66)cgG>cgA		spleen tyrosine kinase		G	,,,	8,4398	14.3+/-33.2	0,8,2195	40.0	30.0	33.0		66,66,66,66	-3.7	1.0	9	dbSNP_134	33	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SYK	NM_001135052.2,NM_001174167.1,NM_001174168.1,NM_003177.5	,,,	0,8,6495	AA,AG,GG		0.0,0.1816,0.0615	,,,	22/613,22/636,22/613,22/636	93606246	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	6850				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity	g.chr9:93606246G>A	L28824	CCDS6688.1, CCDS47992.1	9q22	2013-02-14			ENSG00000165025	ENSG00000165025		"""SH2 domain containing"""	11491	protein-coding gene	gene with protein product		600085				8082894, 1423621	Standard	XM_005252147		Approved		uc004aqz.3	P43405	OTTHUMG00000020200	ENST00000375754.4:c.66G>A	9.37:g.93606246G>A						SYK_ENST00000476708.1_3'UTR|SYK_ENST00000375747.1_Silent_p.R22R|SYK_ENST00000375751.4_Silent_p.R22R|SYK_ENST00000375746.1_Silent_p.R22R	p.R22R	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN			2	214	+			22			SH2 1.			Silent	SNP	ENST00000375754.4	37	c.66G>A	CCDS6688.1																																																																																				0.632	SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053018.1			10	16	0	0	0	0.058154	0	10	16				
KCNK10	54207	broad.mit.edu	37	14	88652407	88652407	+	Silent	SNP	G	G	A	rs201640910		TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr14:88652407G>A	ENST00000340700.5	-	7	1540	c.1089C>T	c.(1087-1089)caC>caT	p.H363H	KCNK10_ENST00000312350.5_Silent_p.H368H|KCNK10_ENST00000319231.5_Silent_p.H368H	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	363					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GCAGCTTATCGTGGATCTCCA	0.662													G|||	1	0.000199681	0.0	0.0014	5008	,	,		15826	0.0		0.0	False		,,,				2504	0.0					ENST00000340700.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						c.(1087-1089)caC>caT		potassium channel, subfamily K, member 10							31.0	25.0	27.0					14																	88652407		2199	4297	6496	SO:0001819	synonymous_variant	54207				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:88652407G>A	AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6273	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 97"""	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.1089C>T	14.37:g.88652407G>A						KCNK10_ENST00000312350.5_Silent_p.H368H|KCNK10_ENST00000319231.5_Silent_p.H368H	p.H363H	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN			7	1540	-			363					B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Silent	SNP	ENST00000340700.5	37	c.1089C>T	CCDS9880.1																																																																																				0.662	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161		21	19	0	0	0	0.055883	0	21	19				
COL22A1	169044	broad.mit.edu	37	8	139895346	139895346	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr8:139895346C>T	ENST00000303045.6	-	2	516	c.70G>A	c.(70-72)Ggc>Agc	p.G24S	COL22A1_ENST00000435777.1_Missense_Mutation_p.G24S	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	24					extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GCCTGGCAGCCGCCGCCCCCA	0.672										HNSCC(7;0.00092)																												ENST00000303045.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(70-72)Ggc>Agc		collagen, type XXII, alpha 1							18.0	21.0	20.0					8																	139895346		2164	4268	6432	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139895346C>T	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.70G>A	8.37:g.139895346C>T	ENSP00000303153:p.Gly24Ser	HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Missense_Mutation_p.G24S	p.G24S	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		2	516	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		24					B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.70G>A	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	c	13.26	2.184435	0.38609	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	T;T	0.77750	-1.12;-1.12	3.6	-0.42	0.12336	.	1.218890	0.06261	N	0.693853	T	0.60457	0.2270	N	0.24115	0.695	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.37731	-0.9693	9	.	.	.	.	4.0963	0.09993	0.0:0.4881:0.1885:0.3234	.	24	Q8NFW1	COMA1_HUMAN	S	24	ENSP00000303153:G24S;ENSP00000387655:G24S	.	G	-	1	0	COL22A1	139964528	0.000000	0.05858	0.047000	0.18901	0.118000	0.20060	-0.658000	0.05329	-0.093000	0.12396	-0.349000	0.07799	GGC		0.672	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		3	7	0	0	0	0.014758	0	3	7				
A2M	2	broad.mit.edu	37	12	9246146	9246146	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr12:9246146G>A	ENST00000318602.7	-	18	2462	c.2155C>T	c.(2155-2157)Cgc>Tgc	p.R719C		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	719	Bait region.|Inhibitory.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	TGCACCAGGCGTGCATGGCCT	0.443																																						ENST00000318602.7																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77						c.(2155-2157)Cgc>Tgc		alpha-2-macroglobulin	Bacitracin(DB00626)|Becaplermin(DB00102)						89.0	82.0	84.0					12																	9246146		1907	4126	6033	SO:0001583	missense	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9246146G>A	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.2155C>T	12.37:g.9246146G>A	ENSP00000323929:p.Arg719Cys						p.R719C	NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN			18	2462	-			719			Bait region.|Inhibitory.		Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	c.2155C>T	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	G	5.742	0.321321	0.10845	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.29917	1.55	2.63	-5.26	0.02772	.	6.887300	0.00166	N	0.000000	T	0.15609	0.0376	N	0.22421	0.69	0.09310	N	1	P	0.40066	0.701	B	0.23150	0.044	T	0.27536	-1.0071	10	0.52906	T	0.07	.	7.1608	0.25662	0.0:0.3529:0.4682:0.1789	.	719	P01023	A2MG_HUMAN	C	719;734	ENSP00000323929:R719C	ENSP00000323929:R719C	R	-	1	0	A2M	9137413	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.281000	0.00528	-2.446000	0.00546	-0.309000	0.09137	CGC		0.443	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		23	22	0	0	0	0.069288	0	23	22				
ITGAD	3681	broad.mit.edu	37	16	31405625	31405625	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr16:31405625G>A	ENST00000389202.2	+	2	149	c.100G>A	c.(100-102)Ggc>Agc	p.G34S		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	34					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.G34C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGATGCAGGCGGCTTTGGGCA	0.582																																						ENST00000389202.2																			1	Substitution - Missense(1)	p.G34C(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(100-102)Ggc>Agc		integrin, alpha D							101.0	83.0	89.0					16																	31405625		2197	4300	6497	SO:0001583	missense	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31405625G>A	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.100G>A	16.37:g.31405625G>A	ENSP00000373854:p.Gly34Ser						p.G34S	NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN			2	149	+			34					Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	37	c.100G>A	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	G	8.549	0.875060	0.17395	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.68331	-0.32	4.54	-0.93	0.10441	.	.	.	.	.	T	0.54549	0.1865	L	0.50333	1.59	0.09310	N	0.999999	D;P;P	0.53462	0.96;0.871;0.871	B;B;B	0.40901	0.343;0.271;0.271	T	0.46911	-0.9157	9	0.39692	T	0.17	.	7.4761	0.27376	0.5563:0.0:0.4437:0.0	.	34;50;34	B7Z6V7;Q59H14;Q13349	.;.;ITAD_HUMAN	S	50;34	ENSP00000373854:G34S	ENSP00000373854:G34S	G	+	1	0	ITGAD	31313126	0.007000	0.16637	0.033000	0.17914	0.444000	0.32077	-0.182000	0.09726	-0.515000	0.06479	-0.367000	0.07326	GGC		0.582	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		18	42	0	0	0	0.043863	0	18	42				
SIVA1	10572	broad.mit.edu	37	14	105222095	105222095	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr14:105222095C>T	ENST00000329967.6	+	2	349	c.247C>T	c.(247-249)Cgt>Tgt	p.R83C	SIVA1_ENST00000347067.5_Intron	NM_006427.3	NP_006418.2	O15304	SIVA_HUMAN	SIVA1, apoptosis-inducing factor	83					activation-induced cell death of T cells (GO:0006924)|extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|response to virus (GO:0009615)|viral process (GO:0016032)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	CD27 receptor binding (GO:0005175)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|prostate(1)	3		all_cancers(154;0.14)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.173)		GAGGGCTGCACGTGGGCAGAT	0.667																																						ENST00000329967.6																			0				large_intestine(1)|lung(1)|prostate(1)	3						c.(247-249)Cgt>Tgt		SIVA1, apoptosis-inducing factor							34.0	36.0	35.0					14																	105222095		2202	4300	6502	SO:0001583	missense	10572				activation of caspase activity by cytochrome c|activation-induced cell death of T cells|apoptosis|induction of apoptosis|interspecies interaction between organisms|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity	cytoplasm|mitochondrion|nucleoplasm|nucleus	caspase activator activity|CD27 receptor binding|metal ion binding|viral receptor activity|zinc ion binding	g.chr14:105222095C>T	U82938	CCDS9992.1, CCDS9993.1	14q32.33	2007-03-19							17712	protein-coding gene	gene with protein product		605567				9177220	Standard	NM_006427		Approved	SIVA, Siva-1, Siva-2, CD27BP	uc001yph.3	O15304		ENST00000329967.6:c.247C>T	14.37:g.105222095C>T	ENSP00000329213:p.Arg83Cys					SIVA1_ENST00000347067.5_Intron	p.R83C	NM_006427.3	NP_006418.2	O15304	SIVA_HUMAN	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.173)	2	349	+		all_cancers(154;0.14)|Melanoma(154;0.155)|all_epithelial(191;0.172)	83					Q96P98|Q9UPD6	Missense_Mutation	SNP	ENST00000329967.6	37	c.247C>T	CCDS9992.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.215475	0.39102	.	.	ENSG00000184990	ENST00000329967;ENST00000553810	.	.	.	5.4	-0.739	0.11120	.	0.305469	0.22616	N	0.057763	T	0.50188	0.1601	M	0.69823	2.125	0.21473	N	0.999679	D;D;P	0.76494	0.999;0.999;0.788	P;P;B	0.61800	0.894;0.894;0.244	T	0.40720	-0.9548	9	0.46703	T	0.11	-18.036	4.5966	0.12332	0.4026:0.2749:0.0:0.3225	.	83;83;83	B4DTY2;O15304;G3V3U1	.;SIVA_HUMAN;.	C	83	.	ENSP00000329213:R83C	R	+	1	0	SIVA1	104293140	0.001000	0.12720	0.001000	0.08648	0.394000	0.30568	-0.139000	0.10358	-0.398000	0.07679	-0.140000	0.14226	CGT		0.667	SIVA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410541.1	NM_006427		16	25	0	0	0	0.028581	0	16	25				
GJA3	2700	broad.mit.edu	37	13	20716908	20716908	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr13:20716908C>T	ENST00000241125.3	-	2	696	c.520G>A	c.(520-522)Gag>Aag	p.E174K		NM_021954.3	NP_068773.2	Q9Y6H8	CXA3_HUMAN	gap junction protein, alpha 3, 46kDa	174					cell-cell signaling (GO:0007267)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)			NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)		GGCTTCAGCTCGAAGCCGTAC	0.597																																						ENST00000241125.3																			0				NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						c.(520-522)Gag>Aag		gap junction protein, alpha 3, 46kDa							45.0	44.0	44.0					13																	20716908		2202	4300	6502	SO:0001583	missense	2700				cell-cell signaling|visual perception	connexon complex|integral to membrane		g.chr13:20716908C>T	AF075290	CCDS9289.1	13q12.11	2008-02-05	2007-01-16		ENSG00000121743	ENSG00000121743		"""Ion channels / Gap junction proteins (connexins)"""	4277	protein-coding gene	gene with protein product	"""connexin 46"""	121015	"""gap junction protein, alpha 3, 46kD (connexin 46)"", ""gap junction protein, alpha 3, 46kDa (connexin 46)"""	CZP3		10205266, 7342922	Standard	NM_021954		Approved	CX46	uc001umx.1	Q9Y6H8	OTTHUMG00000016510	ENST00000241125.3:c.520G>A	13.37:g.20716908C>T	ENSP00000241125:p.Glu174Lys						p.E174K	NM_021954.3	NP_068773.2	Q9Y6H8	CXA3_HUMAN		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)	2	696	-		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)	174					Q0VAB7|Q9H537	Missense_Mutation	SNP	ENST00000241125.3	37	c.520G>A	CCDS9289.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.739934	0.30865	.	.	ENSG00000121743	ENST00000241125	D	0.95342	-3.68	4.89	-0.368	0.12537	Gap junction protein, cysteine-rich domain (1);	0.470118	0.22203	N	0.063213	D	0.87334	0.6151	L	0.31752	0.955	0.27553	N	0.950427	B	0.22003	0.063	B	0.18561	0.022	T	0.72669	-0.4223	10	0.12766	T	0.61	.	10.8445	0.46735	0.0:0.3934:0.4538:0.1528	.	174	Q9Y6H8	CXA3_HUMAN	K	174	ENSP00000241125:E174K	ENSP00000241125:E174K	E	-	1	0	GJA3	19614908	0.016000	0.18221	0.365000	0.25901	0.824000	0.46624	-0.275000	0.08525	-0.179000	0.10654	0.555000	0.69702	GAG		0.597	GJA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044059.3	NM_021954		20	45	0	0	0	0.069288	0	20	45				
FSCB	84075	broad.mit.edu	37	14	44975176	44975176	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr14:44975176C>T	ENST00000340446.4	-	1	1306	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K	RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	339	Pro-rich.					sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GGAGACTCTTCAGCTGATGGA	0.517																																						ENST00000340446.4																			0				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89						c.(1015-1017)Gaa>Aaa		fibrous sheath CABYR binding protein							65.0	75.0	71.0					14																	44975176		2203	4300	6503	SO:0001583	missense	84075					cilium		g.chr14:44975176C>T	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.1015G>A	14.37:g.44975176C>T	ENSP00000344579:p.Glu339Lys						p.E339K	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	1306	-			339			Pro-rich.		Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.1015G>A	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.871824	0.72180	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.12465	2.68	3.79	2.9	0.33743	.	.	.	.	.	T	0.10723	0.0262	L	0.32530	0.975	0.31264	N	0.692507	P	0.45126	0.851	B	0.44224	0.444	T	0.08472	-1.0720	9	0.21014	T	0.42	.	5.9104	0.19025	0.0:0.7684:0.0:0.2316	.	339	Q5H9T9	FSCB_HUMAN	K	339	ENSP00000344579:E339K	ENSP00000344579:E339K	E	-	1	0	FSCB	44044926	0.057000	0.20700	0.205000	0.23548	0.472000	0.32918	0.510000	0.22723	1.222000	0.43521	0.440000	0.28878	GAA		0.517	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		41	77	0	0	0	0.092188	0	41	77				
GREM2	64388	broad.mit.edu	37	1	240656344	240656344	+	Silent	SNP	G	G	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr1:240656344G>A	ENST00000318160.4	-	2	698	c.432C>T	c.(430-432)ttC>ttT	p.F144F		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	144	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				BMP signaling pathway (GO:0030509)|cytokine-mediated signaling pathway (GO:0019221)|determination of dorsal identity (GO:0048263)|embryonic body morphogenesis (GO:0010172)|regulation of cytokine activity (GO:0060300)|sequestering of BMP from receptor via BMP binding (GO:0038098)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	heparin binding (GO:0008201)			endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			TCTTGAGTCGGAAGGGTGGGT	0.647																																						ENST00000318160.4																			0				endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10						c.(430-432)ttC>ttT		gremlin 2, DAN family BMP antagonist							53.0	57.0	55.0					1																	240656344		2203	4300	6503	SO:0001819	synonymous_variant	64388				BMP signaling pathway	extracellular space	cytokine activity	g.chr1:240656344G>A	AK024848	CCDS31070.1	1q43	2013-02-26	2013-02-26		ENSG00000180875	ENSG00000180875			17655	protein-coding gene	gene with protein product	"""protein related to DAN and cerberus"""	608832	"""gremlin 2, cysteine knot superfamily, homolog (Xenopus laevis)"", ""gremlin 2"""			15039429	Standard	XM_005273226		Approved	Prdc, FLJ21195, CKTSF1B2, DAND3	uc001hys.3	Q9H772	OTTHUMG00000039909	ENST00000318160.4:c.432C>T	1.37:g.240656344G>A							p.F144F	NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0123)		2	698	-		all_cancers(173;0.0196)	144			CTCK.		Q86UD9	Silent	SNP	ENST00000318160.4	37	c.432C>T	CCDS31070.1																																																																																				0.647	GREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096286.1	NM_022469		38	58	0	0	0	0.042209	0	38	58				
ZNF441	126068	broad.mit.edu	37	19	11890886	11890886	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr19:11890886G>T	ENST00000357901.4	+	4	349	c.247G>T	c.(247-249)Gga>Tga	p.G83*	ZNF441_ENST00000454339.2_Nonsense_Mutation_p.G16*	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	83					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCAATGTGGAGGACCCTTTAC	0.383																																						ENST00000357901.4																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(247-249)Gga>Tga		zinc finger protein 441							76.0	78.0	77.0					19																	11890886		2203	4300	6503	SO:0001587	stop_gained	126068				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11890886G>T	AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044		"""Zinc fingers, C2H2-type"", ""-"""	20875	protein-coding gene	gene with protein product							Standard	NM_152355		Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.247G>T	19.37:g.11890886G>T	ENSP00000350576:p.Gly83*					ZNF441_ENST00000454339.2_Nonsense_Mutation_p.G16*	p.G83*	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN			4	349	+			83						Nonsense_Mutation	SNP	ENST00000357901.4	37	c.247G>T	CCDS12266.2	.	.	.	.	.	.	.	.	.	.	g	16.27	3.076465	0.55753	.	.	ENSG00000197044	ENST00000409902;ENST00000357901;ENST00000454339	.	.	.	1.23	0.156	0.14910	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	3.4412	0.07463	0.2787:0.0:0.7213:0.0	.	.	.	.	X	39;83;16	.	ENSP00000350576:G83X	G	+	1	0	ZNF441	11751886	0.524000	0.26282	0.003000	0.11579	0.013000	0.08279	0.439000	0.21575	0.086000	0.17137	0.313000	0.20887	GGA		0.383	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335273.3	NM_152355		21	71	1	0	3.51602e-12	0.049695	3.93674e-12	21	71				
CLUH	23277	broad.mit.edu	37	17	2600045	2600045	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr17:2600045A>G	ENST00000570628.2	-	11	2144	c.2039T>C	c.(2038-2040)cTg>cCg	p.L680P	CLUH_ENST00000435359.1_Missense_Mutation_p.L680P|CLUH_ENST00000538975.1_Missense_Mutation_p.L680P			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	680					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)											GGTCTCTGCCAGCTCCTTCAC	0.672																																						ENST00000570628.1																			0											c.(2038-2040)cTg>cCg		clustered mitochondria (cluA/CLU1) homolog							43.0	47.0	45.0					17																	2600045		2071	4207	6278	SO:0001583	missense	23277							g.chr17:2600045A>G	AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"""KIAA0664"""	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.2039T>C	17.37:g.2600045A>G	ENSP00000458986:p.Leu680Pro					CLUH_ENST00000435359.1_Missense_Mutation_p.L680P|CLUH_ENST00000575014.1_Missense_Mutation_p.L612P|CLUH_ENST00000538975.1_Missense_Mutation_p.L680P	p.L680P							11	2144	-								Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Missense_Mutation	SNP	ENST00000570628.2	37	c.2039T>C	CCDS45572.1	.	.	.	.	.	.	.	.	.	.	A	16.14	3.037633	0.54896	.	.	ENSG00000132361	ENST00000435359;ENST00000322335;ENST00000538975	D;D	0.82081	-1.57;-1.57	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.82591	0.5070	M	0.78801	2.425	0.80722	D	1	B;B	0.29481	0.245;0.059	B;B	0.26310	0.068;0.037	T	0.80174	-0.1492	10	0.31617	T	0.26	.	15.062	0.71961	1.0:0.0:0.0:0.0	.	680;680	O75153;C9J6D7	K0664_HUMAN;.	P	680	ENSP00000388872:L680P;ENSP00000439628:L680P	ENSP00000320468:L680P	L	-	2	0	KIAA0664	2546795	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.927000	0.75840	2.158000	0.67659	0.482000	0.46254	CTG		0.672	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437807.2	NM_015229		16	28	0	0	0	0.043863	0	16	28				
CRYGB	1419	broad.mit.edu	37	2	209007511	209007511	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr2:209007511C>T	ENST00000260988.4	-	3	426	c.379G>A	c.(379-381)Gtg>Atg	p.V127M		NM_005210.3	NP_005201.2	P07316	CRGB_HUMAN	crystallin, gamma B	127	Beta/gamma crystallin 'Greek key' 3. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens fiber cell morphogenesis (GO:0070309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		CCCTCCAGCACATTGAGGGAG	0.542																																						ENST00000260988.4																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14						c.(379-381)Gtg>Atg		crystallin, gamma B							117.0	116.0	117.0					2																	209007511		2203	4300	6503	SO:0001583	missense	1419				visual perception		structural constituent of eye lens	g.chr2:209007511C>T		CCDS2380.1	2q34	2013-02-14			ENSG00000182187	ENSG00000182187			2409	protein-coding gene	gene with protein product		123670	"""crystallin, gamma 1-2"""	CRYG2			Standard	NM_005210		Approved		uc002vcp.4	P07316	OTTHUMG00000132941	ENST00000260988.4:c.379G>A	2.37:g.209007511C>T	ENSP00000260988:p.Val127Met						p.V127M	NM_005210.3	NP_005201.2	P07316	CRGB_HUMAN		Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)	3	426	-			127			Beta/gamma crystallin 'Greek key' 3.		Q17RB5|Q53ST2	Missense_Mutation	SNP	ENST00000260988.4	37	c.379G>A	CCDS2380.1	.	.	.	.	.	.	.	.	.	.	C	19.51	3.841073	0.71488	.	.	ENSG00000182187	ENST00000260988	D	0.86097	-2.07	4.73	3.85	0.44370	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.059335	0.64402	D	0.000002	D	0.94725	0.8298	H	0.98005	4.125	0.53688	D	0.999978	D	0.89917	1.0	D	0.97110	1.0	D	0.95303	0.8405	10	0.87932	D	0	.	11.0864	0.48089	0.0:0.9089:0.0:0.0911	.	127	P07316	CRGB_HUMAN	M	127	ENSP00000260988:V127M	ENSP00000260988:V127M	V	-	1	0	CRYGB	208715756	0.976000	0.34144	0.944000	0.38274	0.985000	0.73830	2.479000	0.45197	1.350000	0.45770	0.561000	0.74099	GTG		0.542	CRYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256473.2	NM_005210		73	108	0	0	0	0.048971	0	73	108				
DEAF1	10522	broad.mit.edu	37	11	686996	686996	+	Splice_Site	SNP	G	G	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr11:686996G>A	ENST00000382409.3	-	5	1150	c.666C>T	c.(664-666)ggC>ggT	p.G222G	DEAF1_ENST00000338675.6_Intron	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	222	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.				anatomical structure morphogenesis (GO:0009653)|embryonic skeletal system development (GO:0048706)|germ cell development (GO:0007281)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		GTCCCCGGCCGCCTGCAAGGA	0.607																																						ENST00000382409.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24						c.e5-1		DEAF1 transcription factor							107.0	82.0	90.0					11																	686996		2203	4300	6503	SO:0001630	splice_region_variant	10522				embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding	g.chr11:686996G>A	AF049460	CCDS31327.1	11p15.5	2013-01-10	2013-01-10		ENSG00000177030	ENSG00000177030		"""Zinc fingers, MYND-type"""	14677	protein-coding gene	gene with protein product		602635	"""deformed epidermal autoregulatory factor 1 (Drosophila)"""			9773984	Standard	XR_428838		Approved	NUDR, SPN, ZMYND5	uc001lqq.1	O75398	OTTHUMG00000165363	ENST00000382409.3:c.665-1C>T	11.37:g.686996G>A						DEAF1_ENST00000338675.6_Intron	p.G222_splice	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)	5	1150	-		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	222			SAND.		A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Splice_Site	SNP	ENST00000382409.3	37	c.664_splice	CCDS31327.1																																																																																				0.607	DEAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383614.3	NM_021008	Silent	7	49	0	0	0	0.069234	0	7	49				
LOC440040	440040	broad.mit.edu	37	11	49598093	49598093	+	RNA	SNP	G	G	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr11:49598093G>A	ENST00000527477.1	+	0	697																											AGGGATTCCTGCTGGCATTCG	0.522																																						ENST00000527477.1																			0																																																			0							g.chr11:49598093G>A																													11.37:g.49598093G>A														0	697	+									RNA	SNP	ENST00000527477.1	37																																																																																						0.522	RP11-707M1.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000391378.2			8	18	0	0	0	0.038147	0	8	18				
OR1M1	125963	broad.mit.edu	37	19	9204448	9204448	+	Silent	SNP	C	C	T			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr19:9204448C>T	ENST00000429566.3	+	1	594	c.528C>T	c.(526-528)caC>caT	p.H176H		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	176						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						AGGTGCCTCACTACTTCTGCG	0.572																																						ENST00000429566.3																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(526-528)caC>caT		olfactory receptor, family 1, subfamily M, member 1							135.0	109.0	118.0					19																	9204448		2203	4300	6503	SO:0001819	synonymous_variant	125963				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9204448C>T		CCDS32896.1	19p13.2	2013-09-20			ENSG00000170929	ENSG00000170929		"""GPCR / Class A : Olfactory receptors"""	8220	protein-coding gene	gene with protein product							Standard	NM_001004456		Approved	OR19-6	uc010xkj.2	Q8NGA1	OTTHUMG00000179930	ENST00000429566.3:c.528C>T	19.37:g.9204448C>T							p.H176H	NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN			1	594	+			176					B9EHA6|Q6IFJ3|Q96R91	Silent	SNP	ENST00000429566.3	37	c.528C>T	CCDS32896.1																																																																																				0.572	OR1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448993.1			62	173	0	0	0	0.048971	0	62	173				
ABCA4	24	broad.mit.edu	37	1	94486937	94486937	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr1:94486937G>A	ENST00000370225.3	-	35	4963	c.4877C>T	c.(4876-4878)gCc>gTc	p.A1626V	ABCA4_ENST00000536513.1_5'Flank	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1626					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GCTGACCAGGGCATGCCAGCC	0.517																																						ENST00000370225.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(4876-4878)gCc>gTc		ATP-binding cassette, sub-family A (ABC1), member 4							108.0	107.0	107.0					1																	94486937		2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94486937G>A	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.4877C>T	1.37:g.94486937G>A	ENSP00000359245:p.Ala1626Val						p.A1626V	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	35	4963	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	1626					O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.4877C>T	CCDS747.1	.	.	.	.	.	.	.	.	.	.	G	36	5.664503	0.96745	.	.	ENSG00000198691	ENST00000546054;ENST00000370225	D	0.87334	-2.24	5.64	5.64	0.86602	.	0.160128	0.56097	D	0.000033	D	0.93575	0.7949	M	0.84219	2.685	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	D	0.93378	0.6741	10	0.87932	D	0	.	19.8946	0.96949	0.0:0.0:1.0:0.0	.	1626	P78363	ABCA4_HUMAN	V	418;1626	ENSP00000359245:A1626V	ENSP00000359245:A1626V	A	-	2	0	ABCA4	94259525	1.000000	0.71417	0.992000	0.48379	0.990000	0.78478	9.623000	0.98386	2.937000	0.99478	0.650000	0.86243	GCC		0.517	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		4	167	0	0	0	0.009096	0	4	167				
EGFR	1956	broad.mit.edu	37	7	55225358	55225358	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr7:55225358delT	ENST00000275493.2	+	11	1387	c.1210delT	c.(1210-1212)tttfs	p.F404fs	EGFR_ENST00000344576.2_Frame_Shift_Del_p.F404fs|EGFR_ENST00000454757.2_Frame_Shift_Del_p.F351fs|EGFR_ENST00000342916.3_Frame_Shift_Del_p.F404fs|EGFR_ENST00000442591.1_Frame_Shift_Del_p.F404fs|EGFR_ENST00000455089.1_Frame_Shift_Del_p.F359fs	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	404					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CCTTACAGGGTTTTTGCTGAT	0.448		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		0				NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(1210-1212)ttfs		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						93.0	78.0	83.0					7																	55225358		2203	4300	6503	SO:0001589	frameshift_variant	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55225358delT		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1210delT	7.37:g.55225358delT	ENSP00000275493:p.Phe404fs	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000455089.1_Frame_Shift_Del_p.F359fs|EGFR_ENST00000442591.1_Frame_Shift_Del_p.F404fs|EGFR_ENST00000454757.2_Frame_Shift_Del_p.F351fs|EGFR_ENST00000342916.3_Frame_Shift_Del_p.F404fs|EGFR_ENST00000344576.2_Frame_Shift_Del_p.F404fs	p.F404fs	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		11	1387	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		404					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Frame_Shift_Del	DEL	ENST00000275493.2	37	c.1210delT	CCDS5514.1																																																																																				0.448	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		9	2555						9	2555	---	---	---	---
KAT6B	23522	broad.mit.edu	37	10	76784946	76784949	+	Frame_Shift_Del	DEL	ACAA	ACAA	-			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr10:76784946_76784949delACAA	ENST00000287239.4	+	17	4092_4095	c.3603_3606delACAA	c.(3601-3606)agacaafs	p.RQ1201fs	KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372711.1_Frame_Shift_Del_p.RQ1018fs|KAT6B_ENST00000372725.1_Frame_Shift_Del_p.RQ909fs|RP11-77G23.2_ENST00000413431.1_RNA|KAT6B_ENST00000372714.1_Frame_Shift_Del_p.RQ909fs|KAT6B_ENST00000372724.1_Frame_Shift_Del_p.RQ909fs|RP11-77G23.5_ENST00000436608.1_RNA	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1201					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										GGAAGAAAAGACAAACAGAGGAAG	0.451																																						ENST00000287239.4																			0											c.(3601-3606)agfs		K(lysine) acetyltransferase 6B																																				SO:0001589	frameshift_variant	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76784946_76784949delACAA	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.3603_3606delACAA	10.37:g.76784946_76784949delACAA	ENSP00000287239:p.Arg1201fs					KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372725.1_Frame_Shift_Del_p.RQ909fs|KAT6B_ENST00000372711.1_Frame_Shift_Del_p.RQ1018fs|KAT6B_ENST00000372714.1_Frame_Shift_Del_p.RQ909fs|KAT6B_ENST00000372724.1_Frame_Shift_Del_p.RQ909fs	p.RQ1201fs	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN			17	4092_4095	+			1201					O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Frame_Shift_Del	DEL	ENST00000287239.4	37	c.3603_3606delACAA	CCDS7345.1																																																																																				0.451	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		16	10						16	10	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102293062	102293064	+	RNA	DEL	CTC	CTC	-	rs4965539|rs62026972	byFrequency	TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	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		2	4						2	4	---	---	---	---
ASMTL	8623	broad.mit.edu	37	X	1521443	1521445	+	IGR	DEL	CCT	CCT	-			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chrX:1521443_1521445delCCT	ENST00000381317.3	-	0	2027				ASMTL-AS1_ENST00000443929.1_RNA|ASMTL-AS1_ENST00000425740.2_RNA|ASMTL-AS1_ENST00000420411.2_RNA|ASMTL-AS1_ENST00000602357.1_RNA|ASMTL-AS1_ENST00000419737.2_RNA	NM_004192.3	NP_004183.2	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like							cytoplasm (GO:0005737)	O-methyltransferase activity (GO:0008171)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCCTCCTTTCCCTCCTCCTCCCC	0.586																																						ENST00000425740.2																			0				cervix(1)|endometrium(2)|lung(1)	4																																												SO:0001628	intergenic_variant	0							g.chrX:1521443_1521445delCCT	Y15521	CCDS43917.1, CCDS55362.1, CCDS55363.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000169093	ENSG00000169093		"""Pseudoautosomal regions / PAR1"""	751	protein-coding gene	gene with protein product		300162, 400011				9736779	Standard	NM_004192		Approved		uc004cpx.2	O95671	OTTHUMG00000021057		X.37:g.1521449_1521451delCCT						ASMTL-AS1_ENST00000420411.2_RNA|ASMTL-AS1_ENST00000443929.1_RNA		NR_026711.1						0	415	+								B4DX75|F5GXH4|J3JS33|Q5JQ53|Q8NBH5|Q96G02|Q9BUL6	RNA	DEL	ENST00000381317.3	37		CCDS43917.1																																																																																				0.586	ASMTL-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055595.1	NM_004192		2	4						2	4	---	---	---	---
