#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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
AKR7L	246181	broad.mit.edu	37	1	19597014	19597014	+	RNA	SNP	G	G	T	rs371635302	byFrequency	TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr1:19597014G>T	ENST00000429712.1	-	0	557				AKR7L_ENST00000420396.2_RNA			Q8NHP1	ARK74_HUMAN	aldo-keto reductase family 7-like							extracellular vesicular exosome (GO:0070062)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						CTTCCCAGGCGGCATAGTTGG	0.622													.|||	4	0.000798722	0.0008	0.0014	5008	,	,		19363	0.001		0.0	False		,,,				2504	0.001					ENST00000420396.2																			0				breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6								aldo-keto reductase family 7-like		G		0,4406		0,0,2203	64.0	61.0	62.0			-4.4	0.0	1		62	1,8599	1.2+/-3.3	0,1,4299	no	intergenic				0,1,6502	TT,TG,GG		0.0116,0.0,0.0077			19597014	1,13005	2203	4300	6503			246181							g.chr1:19597014G>T			1p36.1-p35	2008-12-09			ENSG00000211454	ENSG00000211454			24056	protein-coding gene	gene with protein product		608478				12879023	Standard	NR_040288		Approved	AFAR3	uc021ohn.1	Q8NHP1	OTTHUMG00000002520		1.37:g.19597014G>T						AKR7L_ENST00000429712.1_RNA								0	437	-								Q5U614	RNA	SNP	ENST00000429712.1	37			.	.	.	.	.	.	.	.	.	.	G	4.626	0.116388	0.08881	0.0	1.16E-4	ENSG00000211454	ENST00000420396;ENST00000457194	T	0.29917	1.55	4.08	-4.41	0.03590	.	.	.	.	.	T	0.26629	0.0651	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.39961	-0.9588	6	0.72032	D	0.01	.	5.8288	0.18568	0.5481:0.0:0.2165:0.2355	.	.	.	.	Q	34;102	ENSP00000406430:P34Q	ENSP00000406430:P34Q	P	-	2	0	AKR7L	19469601	0.000000	0.05858	0.040000	0.18447	0.018000	0.09664	-3.649000	0.00404	-1.157000	0.02815	-1.038000	0.02383	CCG		0.622	AKR7L-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000007163.3	NM_201252		3	74	3	74	---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39888543	39888543	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr1:39888543G>C	ENST00000372915.3	+	59	16222	c.16135G>C	c.(16135-16137)Gtg>Ctg	p.V5379L	MACF1_ENST00000545844.1_Missense_Mutation_p.V3312L|MACF1_ENST00000564288.1_Missense_Mutation_p.V5374L|MACF1_ENST00000317713.7_Missense_Mutation_p.V3312L|MACF1_ENST00000567887.1_Missense_Mutation_p.V5411L|MACF1_ENST00000289893.4_Missense_Mutation_p.V3814L|MACF1_ENST00000539005.1_Missense_Mutation_p.V3291L|MACF1_ENST00000361689.2_Missense_Mutation_p.V3312L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5379					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGAGTATAAAGTGGTGAAAGC	0.458																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(16120-16122)Gtg>Ctg		microtubule-actin crosslinking factor 1							74.0	73.0	74.0					1																	39888543		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39888543G>C	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.16135G>C	1.37:g.39888543G>C	ENSP00000362006:p.Val5379Leu					MACF1_ENST00000289893.4_Missense_Mutation_p.V3814L|MACF1_ENST00000539005.1_Missense_Mutation_p.V3291L|MACF1_ENST00000361689.2_Missense_Mutation_p.V3312L|MACF1_ENST00000372915.3_Missense_Mutation_p.V5379L|MACF1_ENST00000545844.1_Missense_Mutation_p.V3312L|MACF1_ENST00000317713.7_Missense_Mutation_p.V3312L|MACF1_ENST00000567887.1_Missense_Mutation_p.V5411L	p.V5374L			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		60	16897	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	5379					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.16120G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.6|28.6	4.932544|4.932544	0.92458|0.92458	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893;ENST00000482035	.|T;T;T;T;T;T;T	.|0.50001	.|0.76;0.76;0.76;0.76;0.76;0.76;0.76	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	.|0.000000	.|0.56097	.|D	.|0.000030	T|T	0.66839|0.66839	0.2830|0.2830	M|M	0.67517|0.67517	2.055|2.055	0.80722|0.80722	D|D	1|1	.|P;D;P	.|0.54207	.|0.876;0.965;0.909	.|P;P;P	.|0.59424	.|0.613;0.857;0.731	T|T	0.66830|0.66830	-0.5824|-0.5824	5|10	.|0.72032	.|D	.|0.01	.|.	20.4043|20.4043	0.99006|0.99006	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|5379;3312;3256	.|Q9UPN3;F8W8Q1;Q9UPN3-3	.|MACF1_HUMAN;.;.	T|L	2424|3312;5379;3312;3312;3291;3814;128	.|ENSP00000439537:V3312L;ENSP00000362006:V5379L;ENSP00000354573:V3312L;ENSP00000313438:V3312L;ENSP00000444364:V3291L;ENSP00000289893:V3814L;ENSP00000433104:V128L	.|ENSP00000289893:V3814L	S|V	+|+	2|1	0|0	MACF1|MACF1	39661130|39661130	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	9.864000|9.864000	0.99589|0.99589	2.823000|2.823000	0.97156|0.97156	0.650000|0.650000	0.86243|0.86243	AGT|GTG		0.458	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		4	29	4	29	---	---	---	---
SYCP1	6847	broad.mit.edu	37	1	115489915	115489915	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr1:115489915C>A	ENST00000369522.3	+	27	2536	c.2296C>A	c.(2296-2298)Caa>Aaa	p.Q766K	SYCP1_ENST00000369518.1_Missense_Mutation_p.Q766K	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	766					chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTTAAGAAGCAACTTGAAAT	0.318																																						ENST00000369522.3																		RGS22/SYCP1(2)	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48						c.(2296-2298)Caa>Aaa		synaptonemal complex protein 1							65.0	69.0	67.0					1																	115489915		2203	4293	6496	SO:0001583	missense	6847				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	g.chr1:115489915C>A	D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.2296C>A	1.37:g.115489915C>A	ENSP00000358535:p.Gln766Lys					SYCP1_ENST00000369518.1_Missense_Mutation_p.Q766K	p.Q766K	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	27	2536	+	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)	766					O14963|Q5VXJ6	Missense_Mutation	SNP	ENST00000369522.3	37	c.2296C>A	CCDS879.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.503105	0.44558	.	.	ENSG00000198765	ENST00000369522;ENST00000536734;ENST00000455987;ENST00000369518	T;T;T	0.52754	0.65;0.65;0.65	5.12	3.17	0.36434	.	0.127671	0.53938	D	0.000054	T	0.29158	0.0725	M	0.70275	2.135	0.37689	D	0.923762	B	0.15473	0.013	B	0.20384	0.029	T	0.11131	-1.0600	10	0.33940	T	0.23	-4.035	11.1718	0.48575	0.1442:0.7171:0.1388:0.0	.	766	Q15431	SYCP1_HUMAN	K	766	ENSP00000358535:Q766K;ENSP00000410011:Q766K;ENSP00000358531:Q766K	ENSP00000358531:Q766K	Q	+	1	0	SYCP1	115291438	1.000000	0.71417	0.998000	0.56505	0.888000	0.51559	1.619000	0.36965	0.621000	0.30232	0.650000	0.86243	CAA		0.318	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176		12	58	12	58	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237753955	237753955	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr1:237753955G>A	ENST00000366574.2	+	31	4140	c.3823G>A	c.(3823-3825)Ggc>Agc	p.G1275S	RYR2_ENST00000360064.6_Missense_Mutation_p.G1273S|RYR2_ENST00000542537.1_Missense_Mutation_p.G1259S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1275	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.G1273R(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAGAATAGACGGCACCATAGA	0.423																																						ENST00000366574.2																			1	Substitution - Missense(1)	p.G1273R(1)	lung(1)	NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(3823-3825)Ggc>Agc		ryanodine receptor 2 (cardiac)							187.0	179.0	182.0					1																	237753955		1953	4142	6095	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237753955G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.3823G>A	1.37:g.237753955G>A	ENSP00000355533:p.Gly1275Ser					RYR2_ENST00000542537.1_Missense_Mutation_p.G1259S|RYR2_ENST00000360064.6_Missense_Mutation_p.G1273S	p.G1275S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		31	4140	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1275			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.3823G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	g	20.4	3.989559	0.74589	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96774	-4.12;-4.1;-4.11	5.03	5.03	0.67393	.	0.000000	0.64402	D	0.000015	D	0.95771	0.8624	M	0.73962	2.25	0.80722	D	1	B	0.12013	0.005	B	0.08055	0.003	D	0.93296	0.6672	10	0.72032	D	0.01	.	18.915	0.92501	0.0:0.0:1.0:0.0	.	1275	Q92736	RYR2_HUMAN	S	1275;1273;1259	ENSP00000355533:G1275S;ENSP00000353174:G1273S;ENSP00000443798:G1259S	ENSP00000353174:G1273S	G	+	1	0	RYR2	235820578	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	9.597000	0.98273	2.777000	0.95525	0.655000	0.94253	GGC		0.423	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		19	105	19	105	---	---	---	---
LRRTM1	347730	broad.mit.edu	37	2	80529936	80529936	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr2:80529936C>T	ENST00000295057.3	-	2	1665	c.1009G>A	c.(1009-1011)Gat>Aat	p.D337N	CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000361291.4_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.D337N|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	337	LRRCT.				exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						AAGTTGCCATCGTAGCGCCCC	0.657										HNSCC(69;0.2)																												ENST00000295057.3																			0				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						c.(1009-1011)Gat>Aat		leucine rich repeat transmembrane neuronal 1							29.0	27.0	27.0					2																	80529936		2203	4300	6503	SO:0001583	missense	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80529936C>T	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.1009G>A	2.37:g.80529936C>T	ENSP00000295057:p.Asp337Asn	HNSCC(69;0.2)				CTNNA2_ENST00000541047.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.D337N|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000540488.1_Intron	p.D337N	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN			2	1665	-			337			LRRCT.		A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	ENST00000295057.3	37	c.1009G>A	CCDS1966.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.789431	0.90367	.	.	ENSG00000162951	ENST00000295057;ENST00000409148	T;T	0.42900	0.96;0.96	5.32	5.32	0.75619	.	0.000000	0.85682	U	0.000000	T	0.58694	0.2140	L	0.58428	1.81	0.80722	D	1	D	0.71674	0.998	P	0.60012	0.867	T	0.56165	-0.8024	9	.	.	.	.	18.995	0.92809	0.0:1.0:0.0:0.0	.	337	Q86UE6	LRRT1_HUMAN	N	337	ENSP00000295057:D337N;ENSP00000386646:D337N	.	D	-	1	0	LRRTM1	80383447	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.808000	0.86044	2.452000	0.82932	0.655000	0.94253	GAT		0.657	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		4	22	4	22	---	---	---	---
EIF2AK3	9451	broad.mit.edu	37	2	88874185	88874185	+	Splice_Site	SNP	T	T	C			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr2:88874185T>C	ENST00000303236.3	-	13	3117	c.2816A>G	c.(2815-2817)aAg>aGg	p.K939R	AC104134.2_ENST00000413234.1_RNA|EIF2AK3_ENST00000470706.1_5'UTR|EIF2AK3_ENST00000419748.1_Splice_Site_p.K788R	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	939	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			ovary(3)	3						AATACAGACCTTGAGGTCCCT	0.488																																					GBM(138;671 1851 16235 39058 45249)	ENST00000303236.3																			0				ovary(3)	3						c.(2815-2817)aAg>aGg		eukaryotic translation initiation factor 2-alpha kinase 3							74.0	70.0	71.0					2																	88874185		2203	4300	6503	SO:0001630	splice_region_variant	9451				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding	g.chr2:88874185T>C	AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.2817+1A>G	2.37:g.88874185T>C						AC104134.2_ENST00000413234.1_RNA|EIF2AK3_ENST00000470706.1_5'UTR|EIF2AK3_ENST00000419748.1_Splice_Site_p.K788R	p.K939R	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN			13	3117	-			939			Protein kinase.		A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Splice_Site	SNP	ENST00000303236.3	37	c.2816A>G	CCDS33241.1	.	.	.	.	.	.	.	.	.	.	T	29.1	4.977975	0.92982	.	.	ENSG00000172071	ENST00000419748;ENST00000303236;ENST00000535951;ENST00000415570	D;D;D	0.90900	-2.75;-2.75;-2.75	5.65	5.65	0.86999	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96685	0.8918	H	0.94808	3.585	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97784	1.0234	10	0.87932	D	0	-13.3376	15.8817	0.79208	0.0:0.0:0.0:1.0	.	939	Q9NZJ5	E2AK3_HUMAN	R	788;939;788;818	ENSP00000408325:K788R;ENSP00000307235:K939R;ENSP00000412076:K818R	ENSP00000307235:K939R	K	-	2	0	EIF2AK3	88655300	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.040000	0.89188	2.156000	0.67533	0.460000	0.39030	AAG		0.488	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2	NM_004836	Missense_Mutation	4	17	4	17	---	---	---	---
ALPP	250	broad.mit.edu	37	2	233246234	233246234	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr2:233246234C>T	ENST00000392027.2	+	11	1606	c.1337C>T	c.(1336-1338)gCa>gTa	p.A446V	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	446					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CAGCAGTCAGCAGTGCCCCTG	0.667																																						ENST00000392027.2																			0				NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22						c.(1336-1338)gCa>gTa		alkaline phosphatase, placental							26.0	30.0	29.0					2																	233246234		2202	4300	6502	SO:0001583	missense	250					anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233246234C>T	M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"""Regan isozyme"""	171800	"""alkaline phosphatase, placental (Regan isozyme)"""			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.1337C>T	2.37:g.233246234C>T	ENSP00000375881:p.Ala446Val					AC068134.8_ENST00000441266.1_RNA	p.A446V	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	11	1606	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	446					P05188|P06861|Q53S78|Q96DB7	Missense_Mutation	SNP	ENST00000392027.2	37	c.1337C>T	CCDS2490.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.328057	0.60743	.	.	ENSG00000163283	ENST00000392027	D	0.96940	-4.18	2.35	2.35	0.29111	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.96439	0.8838	M	0.69185	2.1	0.58432	D	0.999994	D	0.64830	0.994	P	0.54965	0.765	D	0.95897	0.8912	10	0.54805	T	0.06	.	13.0087	0.58720	0.0:1.0:0.0:0.0	.	446	P05187	PPB1_HUMAN	V	446	ENSP00000375881:A446V	ENSP00000375881:A446V	A	+	2	0	ALPP	232954478	1.000000	0.71417	0.022000	0.16811	0.139000	0.21198	5.278000	0.65592	1.294000	0.44707	0.305000	0.20034	GCA		0.667	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	NM_001632		10	22	10	22	---	---	---	---
ZBBX	79740	broad.mit.edu	37	3	167000276	167000276	+	Silent	SNP	T	T	C			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr3:167000276T>C	ENST00000392766.2	-	19	2227	c.1887A>G	c.(1885-1887)aaA>aaG	p.K629K	ZBBX_ENST00000392764.1_Silent_p.K600K|ZBBX_ENST00000392767.2_Silent_p.K629K|ZBBX_ENST00000455345.2_Silent_p.K668K|ZBBX_ENST00000307529.5_Silent_p.K668K	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	629						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						GTCTCTGTGATTTCTGACCTA	0.353																																						ENST00000392766.2																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(1885-1887)aaA>aaG		zinc finger, B-box domain containing							97.0	95.0	96.0					3																	167000276		1807	4061	5868	SO:0001819	synonymous_variant	79740					intracellular	zinc ion binding	g.chr3:167000276T>C	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.1887A>G	3.37:g.167000276T>C						ZBBX_ENST00000392767.2_Silent_p.K629K|ZBBX_ENST00000455345.2_Silent_p.K668K|ZBBX_ENST00000392764.1_Silent_p.K600K|ZBBX_ENST00000307529.5_Silent_p.K668K	p.K629K	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN			19	2227	-			629					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Silent	SNP	ENST00000392766.2	37	c.1887A>G	CCDS3199.2																																																																																				0.353	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		3	70	3	70	---	---	---	---
OPA1	4976	broad.mit.edu	37	3	193361334	193361334	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr3:193361334G>A	ENST00000392438.3	+	13	1464	c.1230G>A	c.(1228-1230)atG>atA	p.M410I	OPA1_ENST00000361828.2_Missense_Mutation_p.M428I|OPA1_ENST00000361715.2_Missense_Mutation_p.M429I|OPA1_ENST00000361150.2_Missense_Mutation_p.M411I|OPA1_ENST00000361908.3_Missense_Mutation_p.M447I|OPA1_ENST00000361510.2_Missense_Mutation_p.M465I	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	410	Dynamin-type G.				apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		CATCAGGCATGGCTCCTGACA	0.308																																						ENST00000361510.2																			0				breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(1393-1395)atG>atA		optic atrophy 1 (autosomal dominant)							86.0	84.0	85.0					3																	193361334		2203	4299	6502	SO:0001583	missense	4976				apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding	g.chr3:193361334G>A	AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"""mitochondrial dynamin-like GTPase"", ""dynamin-like guanosine triphosphatase"", ""Dynamin-like 120 kDa protein, mitochondrial"""	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.1230G>A	3.37:g.193361334G>A	ENSP00000376233:p.Met410Ile					OPA1_ENST00000361715.2_Missense_Mutation_p.M429I|OPA1_ENST00000361908.3_Missense_Mutation_p.M447I|OPA1_ENST00000392438.3_Missense_Mutation_p.M410I|OPA1_ENST00000361828.2_Missense_Mutation_p.M428I|OPA1_ENST00000361150.2_Missense_Mutation_p.M411I	p.M465I	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)	15	1629	+	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		410					D3DNW4	Missense_Mutation	SNP	ENST00000392438.3	37	c.1395G>A	CCDS43186.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.770527	0.90108	.	.	ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150	D;D;D;D;D;D	0.96716	-4.1;-4.1;-4.1;-4.1;-4.1;-4.1	5.79	5.79	0.91817	Dynamin, GTPase domain (2);	0.000000	0.85682	D	0.000000	D	0.97219	0.9091	L	0.42744	1.35	0.80722	D	1	D;D;D;D;D;D;D;D	0.69078	0.977;0.985;0.977;0.977;0.997;0.977;0.969;0.988	D;D;D;D;D;D;D;D	0.81914	0.966;0.977;0.966;0.966;0.995;0.966;0.968;0.954	D	0.97873	1.0287	10	0.87932	D	0	-20.891	18.5901	0.91208	0.0:0.0:1.0:0.0	.	374;410;392;411;428;447;429;465	E5KLK2;O60313;E5KLK0;E5KLK1;E5KLJ6;E5KLJ7;E5KLJ9;E5KLJ5	.;OPA1_HUMAN;.;.;.;.;.;.	I	447;410;465;429;428;411	ENSP00000354681:M447I;ENSP00000376233:M410I;ENSP00000355324:M465I;ENSP00000355311:M429I;ENSP00000354429:M428I;ENSP00000354781:M411I	ENSP00000354781:M411I	M	+	3	0	OPA1	194844028	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.803000	0.99136	2.735000	0.93741	0.655000	0.94253	ATG		0.308	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2	NM_130837		11	46	11	46	---	---	---	---
YTHDC1	91746	broad.mit.edu	37	4	69198540	69198540	+	Silent	SNP	T	T	C			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr4:69198540T>C	ENST00000344157.4	-	6	1334	c.999A>G	c.(997-999)ttA>ttG	p.L333L	YTHDC1_ENST00000355665.3_Intron|YTHDC1_ENST00000579690.1_Silent_p.L333L	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	333					mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						CGGAAGATGATAATTTCTCAT	0.328																																						ENST00000344157.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						c.(997-999)ttA>ttG		YTH domain containing 1							99.0	89.0	93.0					4																	69198540		2202	4299	6501	SO:0001819	synonymous_variant	91746							g.chr4:69198540T>C	AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.999A>G	4.37:g.69198540T>C						YTHDC1_ENST00000355665.3_Intron|YTHDC1_ENST00000579690.1_Silent_p.L333L	p.L333L	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN			6	1334	-			333					Q4W5Q3|Q7Z622|Q8TF35	Silent	SNP	ENST00000344157.4	37	c.999A>G	CCDS33992.1																																																																																				0.328	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1	NM_133370		4	46	4	46	---	---	---	---
CPA5	93979	broad.mit.edu	37	7	129989880	129989880	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr7:129989880A>G	ENST00000485477.1	+	4	1392	c.263A>G	c.(262-264)gAa>gGa	p.E88G	CPA5_ENST00000431780.2_Missense_Mutation_p.E88G|CPA5_ENST00000466363.2_Missense_Mutation_p.E88G|CPA5_ENST00000393213.3_Missense_Mutation_p.E88G|CPA5_ENST00000474905.1_Missense_Mutation_p.E88G|CPA5_ENST00000461828.1_Missense_Mutation_p.E88G|CPA5_ENST00000355388.3_Missense_Mutation_p.E88G			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	88						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					CCTTTCTCTGAACTGAAAGAC	0.527																																						ENST00000485477.1																			0				NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23						c.(262-264)gAa>gGa		carboxypeptidase A5							122.0	123.0	123.0					7																	129989880		2203	4300	6503	SO:0001583	missense	93979				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr7:129989880A>G	AF384667	CCDS5819.1, CCDS47713.1	7q32	2008-07-18			ENSG00000158525	ENSG00000158525			15722	protein-coding gene	gene with protein product		609561				11836249	Standard	NM_080385		Approved		uc003vps.2	Q8WXQ8	OTTHUMG00000157824	ENST00000485477.1:c.263A>G	7.37:g.129989880A>G	ENSP00000420237:p.Glu88Gly					CPA5_ENST00000461828.1_Missense_Mutation_p.E88G|CPA5_ENST00000431780.2_Missense_Mutation_p.E88G|CPA5_ENST00000466363.2_Missense_Mutation_p.E88G|CPA5_ENST00000393213.3_Missense_Mutation_p.E88G|CPA5_ENST00000474905.1_Missense_Mutation_p.E88G|CPA5_ENST00000355388.3_Missense_Mutation_p.E88G	p.E88G			Q8WXQ8	CBPA5_HUMAN			4	1392	+	Melanoma(18;0.0435)		88					G3V0G8|Q6ZNI6|Q86SE2|Q86XM3|Q8NA08	Missense_Mutation	SNP	ENST00000485477.1	37	c.263A>G	CCDS5819.1	.	.	.	.	.	.	.	.	.	.	A	9.445	1.089116	0.20390	.	.	ENSG00000158525	ENST00000355388;ENST00000463587;ENST00000461828;ENST00000466363;ENST00000485477;ENST00000431780;ENST00000474905;ENST00000393213	T;T;T;T;T;T;T;T	0.14144	2.53;2.53;2.53;2.53;2.53;2.53;2.53;2.53	5.76	3.31	0.37934	Proteinase inhibitor, propeptide (1);Proteinase inhibitor, carboxypeptidase propeptide (2);	0.531074	0.17397	N	0.175697	T	0.10981	0.0268	L	0.36672	1.1	0.29566	N	0.850233	B;B	0.09022	0.002;0.001	B;B	0.12837	0.005;0.008	T	0.20638	-1.0269	9	.	.	.	.	10.0483	0.42199	0.6726:0.3274:0.0:0.0	.	88;88	G3V0G8;Q8WXQ8	.;CBPA5_HUMAN	G	88	ENSP00000347549:E88G;ENSP00000420060:E88G;ENSP00000418183:E88G;ENSP00000419025:E88G;ENSP00000420237:E88G;ENSP00000393045:E88G;ENSP00000417314:E88G;ENSP00000376907:E88G	.	E	+	2	0	CPA5	129777116	0.980000	0.34600	0.990000	0.47175	0.066000	0.16364	1.169000	0.31871	0.404000	0.25506	0.533000	0.62120	GAA		0.527	CPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349712.1	NM_001127441		11	101	11	101	---	---	---	---
ZNF33B	7582	broad.mit.edu	37	10	43088476	43088476	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr10:43088476T>A	ENST00000359467.3	-	5	2036	c.1922A>T	c.(1921-1923)gAg>gTg	p.E641V	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	641					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						TTTTCCACACTCATTACATTC	0.388																																					Melanoma(137;1247 1767 16772 25727 43810)	ENST00000359467.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						c.(1921-1923)gAg>gTg		zinc finger protein 33B							114.0	117.0	116.0					10																	43088476		2203	4300	6503	SO:0001583	missense	7582					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:43088476T>A	X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"""Zinc fingers, C2H2-type"", ""-"""	13097	protein-coding gene	gene with protein product		194522	"""zinc finger protein 33b (KOX 31)"", ""zinc finger protein 11B"""	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014	ENST00000359467.3:c.1922A>T	10.37:g.43088476T>A	ENSP00000352444:p.Glu641Val					ZNF33B_ENST00000486187.1_RNA	p.E641V	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN			5	2036	-			641					Q06731|Q32MA2|Q86XY8|Q8NDW3	Missense_Mutation	SNP	ENST00000359467.3	37	c.1922A>T	CCDS7198.1	.	.	.	.	.	.	.	.	.	.	T	12.59	1.984433	0.35036	.	.	ENSG00000196693	ENST00000359467;ENST00000395836	T	0.37915	1.17	2.69	1.48	0.22813	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.234181	0.21823	N	0.068594	T	0.16811	0.0404	N	0.05124	-0.11	0.09310	N	1	B	0.31519	0.327	B	0.32928	0.155	T	0.15263	-1.0443	10	0.54805	T	0.06	.	7.2489	0.26138	0.0:0.0:0.2259:0.774	.	641	Q06732	ZN33B_HUMAN	V	641;607	ENSP00000352444:E641V	ENSP00000352444:E641V	E	-	2	0	ZNF33B	42408482	0.001000	0.12720	0.901000	0.35422	0.958000	0.62258	0.927000	0.28818	0.427000	0.26145	0.336000	0.21669	GAG		0.388	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_006955		4	107	4	107	---	---	---	---
KAT6B	23522	broad.mit.edu	37	10	76735743	76735743	+	Missense_Mutation	SNP	A	A	T	rs543814514		TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr10:76735743A>T	ENST00000287239.4	+	8	2137	c.1648A>T	c.(1648-1650)Atc>Ttc	p.I550F	KAT6B_ENST00000372714.1_Intron|KAT6B_ENST00000372724.1_Intron|KAT6B_ENST00000372711.1_Intron|KAT6B_ENST00000372725.1_Intron	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	550	Negatively regulates HAT activity.				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)										GCTTTCTCATATCTATACCAC	0.512																																						ENST00000287239.4																			0											c.(1648-1650)Atc>Ttc		K(lysine) acetyltransferase 6B							101.0	90.0	94.0					10																	76735743		2203	4300	6503	SO:0001583	missense	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.chr10:76735743A>T	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.1648A>T	10.37:g.76735743A>T	ENSP00000287239:p.Ile550Phe					KAT6B_ENST00000372711.1_Intron|KAT6B_ENST00000372714.1_Intron|KAT6B_ENST00000372725.1_Intron|KAT6B_ENST00000372724.1_Intron	p.I550F	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN			8	2137	+			550			Negatively regulates HAT activity.		O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	c.1648A>T	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	A	14.19	2.461197	0.43736	.	.	ENSG00000156650	ENST00000287239	T	0.61510	0.1	6.08	6.08	0.98989	.	0.139910	0.32204	N	0.006429	T	0.50854	0.1640	N	0.19112	0.55	0.80722	D	1	D	0.53885	0.963	P	0.49012	0.598	T	0.48581	-0.9023	9	.	.	.	-3.372	15.214	0.73250	1.0:0.0:0.0:0.0	.	550	Q8WYB5	KAT6B_HUMAN	F	550	ENSP00000287239:I550F	.	I	+	1	0	KAT6B	76405749	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.564000	0.90726	2.330000	0.79161	0.533000	0.62120	ATC		0.512	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		9	59	9	59	---	---	---	---
RRM1	6240	broad.mit.edu	37	11	4130915	4130915	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr11:4130915C>A	ENST00000300738.5	+	5	633	c.429C>A	c.(427-429)taC>taA	p.Y143*	RRM1_ENST00000423050.2_Nonsense_Mutation_p.Y46*	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	143					cell proliferation in forebrain (GO:0021846)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|male gonad development (GO:0008584)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|pyrimidine nucleobase metabolic process (GO:0006206)|response to ionizing radiation (GO:0010212)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	ATTTCTCTTACAATTACTTCG	0.294																																					NSCLC(45;1345 1376 6258 22925)|Ovarian(34;894 1053 6175 12768)	ENST00000300738.5																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14						c.(427-429)taC>taA		ribonucleotide reductase M1	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)						58.0	60.0	59.0					11																	4130915		2201	4297	6498	SO:0001587	stop_gained	6240				deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity	g.chr11:4130915C>A	X59543	CCDS7750.1	11p15.5	2009-07-10	2008-03-11		ENSG00000167325	ENSG00000167325	1.17.14.1		10451	protein-coding gene	gene with protein product		180410	"""ribonucleotide reductase M1 polypeptide"""			7557993	Standard	NM_001033		Approved		uc001lyw.4	P23921	OTTHUMG00000133361	ENST00000300738.5:c.429C>A	11.37:g.4130915C>A	ENSP00000300738:p.Tyr143*					RRM1_ENST00000423050.2_Nonsense_Mutation_p.Y46*	p.Y143*	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	5	633	+		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)	143					Q9UNN2	Nonsense_Mutation	SNP	ENST00000300738.5	37	c.429C>A	CCDS7750.1	.	.	.	.	.	.	.	.	.	.	C	37	6.010816	0.97200	.	.	ENSG00000167325	ENST00000300738;ENST00000423050	.	.	.	5.58	-8.6	0.00889	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.9882	20.4278	0.99070	0.0:0.7781:0.0:0.2219	.	.	.	.	X	143;46	.	ENSP00000300738:Y143X	Y	+	3	2	RRM1	4087491	0.734000	0.28142	0.584000	0.28653	0.994000	0.84299	-0.128000	0.10531	-1.985000	0.00984	-0.302000	0.09304	TAC		0.294	RRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257197.1	NM_001033		3	41	3	41	---	---	---	---
NLRP10	338322	broad.mit.edu	37	11	7982031	7982031	+	Missense_Mutation	SNP	C	C	A	rs74451065	byFrequency	TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr11:7982031C>A	ENST00000328600.2	-	2	1289	c.1128G>T	c.(1126-1128)gaG>gaT	p.E376D		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	376	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TTCTAGGTGTCTCTAAGACAA	0.547																																						ENST00000328600.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(1126-1128)gaG>gaT		NLR family, pyrin domain containing 10							93.0	67.0	76.0					11																	7982031		2201	4296	6497	SO:0001583	missense	338322						ATP binding	g.chr11:7982031C>A	AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"""Nucleotide-binding domain and leucine rich repeat containing"""	21464	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"""	609662	"""NACHT, leucine rich repeat and PYD containing 10"""	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.1128G>T	11.37:g.7982031C>A	ENSP00000327763:p.Glu376Asp						p.E376D	NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN		Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	1289	-			376			NACHT.		Q2M3C4|Q6JGT0	Missense_Mutation	SNP	ENST00000328600.2	37	c.1128G>T	CCDS7784.1	.	.	.	.	.	.	.	.	.	.	C	6.684	0.494896	0.12702	.	.	ENSG00000182261	ENST00000328600	T	0.81163	-1.46	5.05	0.639	0.17747	.	0.190876	0.25869	N	0.027768	T	0.65428	0.2690	L	0.38531	1.155	0.09310	N	1	B	0.15141	0.012	B	0.13407	0.009	T	0.47935	-0.9078	10	0.25106	T	0.35	.	5.3467	0.16014	0.0:0.4404:0.3693:0.1902	.	376	Q86W26	NAL10_HUMAN	D	376	ENSP00000327763:E376D	ENSP00000327763:E376D	E	-	3	2	NLRP10	7938607	0.000000	0.05858	0.013000	0.15412	0.004000	0.04260	-0.630000	0.05502	0.232000	0.21100	0.655000	0.94253	GAG		0.547	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		10	26	10	26	---	---	---	---
SCGB1A1	7356	broad.mit.edu	37	11	62189705	62189705	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr11:62189705T>C	ENST00000278282.2	+	2	129	c.68T>C	c.(67-69)aTc>aCc	p.I23T	SCGB1A1_ENST00000534397.1_5'UTR|CTD-2531D15.4_ENST00000528983.1_RNA	NM_003357.4	NP_003348.1	P11684	UTER_HUMAN	secretoglobin, family 1A, member 1 (uteroglobin)	23					embryo implantation (GO:0007566)|female pregnancy (GO:0007565)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-13 production (GO:0032696)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of inflammatory response (GO:0050727)|regulation of mRNA stability (GO:0043488)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to fibroblast growth factor (GO:0071774)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to silicon dioxide (GO:0034021)|response to xenobiotic stimulus (GO:0009410)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nuclear envelope (GO:0005635)|rough endoplasmic reticulum (GO:0005791)|secretory granule (GO:0030141)	phospholipase A2 inhibitor activity (GO:0019834)			lung(1)	1						TCTGCAGAGATCTGCCCGAGC	0.557																																						ENST00000278282.2																			0				lung(1)	1						c.(67-69)aTc>aCc		secretoglobin, family 1A, member 1 (uteroglobin)							93.0	84.0	87.0					11																	62189705		2202	4299	6501	SO:0001583	missense	7356				embryo implantation|signal transduction	extracellular region	binding|phospholipase A2 inhibitor activity	g.chr11:62189705T>C		CCDS8020.1	11q12.3	2011-12-14	2002-03-22	2002-03-22	ENSG00000149021	ENSG00000149021		"""Secretoglobins"""	12523	protein-coding gene	gene with protein product	"""Uteroglobin (Clara-cell specific 10-kD protein)"""	192020	"""uteroglobin"""	UGB		1284526, 22155607	Standard	NM_003357		Approved	CC10, CCSP, CC16	uc001ntj.3	P11684	OTTHUMG00000167526	ENST00000278282.2:c.68T>C	11.37:g.62189705T>C	ENSP00000278282:p.Ile23Thr					CTD-2531D15.4_ENST00000528983.1_RNA|SCGB1A1_ENST00000534397.1_5'UTR	p.I23T	NM_003357.4	NP_003348.1	P11684	UTER_HUMAN			2	129	+			23					B2R5F2|Q6FHH3|Q9UCM2|Q9UCM4	Missense_Mutation	SNP	ENST00000278282.2	37	c.68T>C	CCDS8020.1	.	.	.	.	.	.	.	.	.	.	T	11.64	1.697810	0.30142	.	.	ENSG00000149021	ENST00000278282	T	0.25085	1.82	4.73	3.6	0.41247	.	0.634499	0.13798	N	0.362043	T	0.17023	0.0409	.	.	.	0.26668	N	0.97177	B	0.18013	0.025	B	0.18263	0.021	T	0.18903	-1.0322	9	0.34782	T	0.22	-14.9	7.312	0.26479	0.0:0.1018:0.0:0.8982	.	23	P11684	UTER_HUMAN	T	23	ENSP00000278282:I23T	ENSP00000278282:I23T	I	+	2	0	SCGB1A1	61946281	0.006000	0.16342	0.387000	0.26183	0.018000	0.09664	-0.227000	0.09126	0.780000	0.33566	0.460000	0.39030	ATC		0.557	SCGB1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394925.1	NM_003357		3	65	3	65	---	---	---	---
FLI1	2313	broad.mit.edu	37	11	128680431	128680431	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr11:128680431G>A	ENST00000527786.2	+	9	1396	c.907G>A	c.(907-909)Gag>Aag	p.E303K	FLI1_ENST00000281428.8_Missense_Mutation_p.E237K|FLI1_ENST00000344954.6_Missense_Mutation_p.E270K|FLI1_ENST00000534087.2_Missense_Mutation_p.E270K|FLI1_ENST00000525560.1_Missense_Mutation_p.E110K	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	303					blood circulation (GO:0008015)|cell differentiation (GO:0030154)|hemostasis (GO:0007599)|megakaryocyte development (GO:0035855)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		TATCACCTGGGAGGGGACCAA	0.617			T	EWSR1	Ewing sarcoma																																	ENST00000527786.2				Dom	yes		11	11q24	2313	T	Friend leukemia virus integration 1			M	EWSR1		Ewing sarcoma	EWSR1/FLI1(2569)	0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31						c.(907-909)Gag>Aag		Fli-1 proto-oncogene, ETS transcription factor							19.0	22.0	21.0					11																	128680431		2186	4293	6479	SO:0001583	missense	2313				hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:128680431G>A	M98833	CCDS44768.1, CCDS53725.1, CCDS59230.1, CCDS59231.1	11q24.1-q24.3	2014-09-17	2013-08-07		ENSG00000151702	ENSG00000151702			3749	protein-coding gene	gene with protein product		193067	"""Friend leukemia virus integration 1"""			1765382	Standard	NM_001167681		Approved	SIC-1, EWSR2	uc010sbu.2	Q01543	OTTHUMG00000165792	ENST00000527786.2:c.907G>A	11.37:g.128680431G>A	ENSP00000433488:p.Glu303Lys					FLI1_ENST00000281428.8_Missense_Mutation_p.E237K|FLI1_ENST00000344954.6_Missense_Mutation_p.E270K|FLI1_ENST00000534087.2_Missense_Mutation_p.E270K|FLI1_ENST00000525560.1_Missense_Mutation_p.E110K	p.E303K	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)	9	1396	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)						B2R8H2|B4DFV4|B4DTC6|G3V183|Q14319|Q92480|Q9UE07	Missense_Mutation	SNP	ENST00000527786.2	37	c.907G>A	CCDS44768.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.977028	0.92982	.	.	ENSG00000151702	ENST00000525560;ENST00000344954;ENST00000429175;ENST00000534087;ENST00000281428	T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51	5.63	5.63	0.86233	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (3);	0.216108	0.47852	D	0.000201	T	0.75236	0.3822	M	0.78344	2.41	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.986	D;D;D	0.91635	0.997;0.999;0.911	T	0.77517	-0.2558	10	0.87932	D	0	.	19.6722	0.95915	0.0:0.0:1.0:0.0	.	303;110;237	Q01543;B4DFV4;Q01543-2	FLI1_HUMAN;.;.	K	110;270;303;270;237	ENSP00000437124:E110K;ENSP00000339627:E270K;ENSP00000399985:E303K;ENSP00000432950:E270K;ENSP00000281428:E237K	ENSP00000281428:E237K	E	+	1	0	FLI1	128185641	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.656000	0.90262	0.585000	0.79938	GAG		0.617	FLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386226.2	NM_002017		3	9	3	9	---	---	---	---
SCYL2	55681	broad.mit.edu	37	12	100706228	100706228	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr12:100706228G>C	ENST00000360820.2	+	6	1086	c.649G>C	c.(649-651)Gaa>Caa	p.E217Q		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	217	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						TCCTTGTAAAGAATGGGACCC	0.343																																						ENST00000360820.2																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						c.(649-651)Gaa>Caa		SCY1-like 2 (S. cerevisiae)							77.0	74.0	75.0					12																	100706228		2202	4300	6502	SO:0001583	missense	55681				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding	g.chr12:100706228G>C	AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021			19286	protein-coding gene	gene with protein product						10718198	Standard	NM_017988		Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	ENST00000360820.2:c.649G>C	12.37:g.100706228G>C	ENSP00000354061:p.Glu217Gln						p.E217Q	NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN			6	1086	+			217			Protein kinase.		A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Missense_Mutation	SNP	ENST00000360820.2	37	c.649G>C	CCDS9076.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.016413	0.93404	.	.	ENSG00000136021	ENST00000549687;ENST00000548392;ENST00000258506;ENST00000360820	T;T	0.66099	-0.19;-0.19	5.73	5.73	0.89815	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.73040	0.3536	L	0.47716	1.5	0.80722	D	1	D	0.63880	0.993	D	0.67900	0.954	T	0.65463	-0.6162	10	0.20046	T	0.44	.	19.9133	0.97031	0.0:0.0:1.0:0.0	.	217	Q6P3W7	SCYL2_HUMAN	Q	217;44;44;217	ENSP00000448366:E217Q;ENSP00000354061:E217Q	ENSP00000258506:E44Q	E	+	1	0	SCYL2	99230359	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.624000	0.98398	2.721000	0.93114	0.655000	0.94253	GAA		0.343	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408493.2	NM_017988		3	41	3	41	---	---	---	---
DTX1	1840	broad.mit.edu	37	12	113532986	113532986	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr12:113532986A>G	ENST00000257600.3	+	7	2029	c.1526A>G	c.(1525-1527)tAt>tGt	p.Y509C	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	509					cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CGCATCGTCTATGACATCCCC	0.652																																						ENST00000257600.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(1525-1527)tAt>tGt		deltex homolog 1 (Drosophila)							106.0	105.0	105.0					12																	113532986		2203	4300	6503	SO:0001583	missense	1840				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr12:113532986A>G	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"""deltex homolog 1 (Drosophila)"""			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.1526A>G	12.37:g.113532986A>G	ENSP00000257600:p.Tyr509Cys					DTX1_ENST00000547974.1_3'UTR	p.Y509C	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN			7	2029	+			509					O60630|Q9BS04	Missense_Mutation	SNP	ENST00000257600.3	37	c.1526A>G	CCDS9164.1	.	.	.	.	.	.	.	.	.	.	A	19.54	3.847346	0.71603	.	.	ENSG00000135144	ENST00000257600	T	0.51817	0.69	4.54	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.77280	0.4107	H	0.95950	3.745	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84421	0.0571	10	0.87932	D	0	-7.4684	12.84	0.57797	1.0:0.0:0.0:0.0	.	509	Q86Y01	DTX1_HUMAN	C	509	ENSP00000257600:Y509C	ENSP00000257600:Y509C	Y	+	2	0	DTX1	112017369	1.000000	0.71417	0.895000	0.35142	0.834000	0.47266	7.245000	0.78237	1.663000	0.50791	0.459000	0.35465	TAT		0.652	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2			21	117	21	117	---	---	---	---
IPO5	3843	broad.mit.edu	37	13	98655152	98655152	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr13:98655152A>G	ENST00000490680.1	+	13	1423	c.1358A>G	c.(1357-1359)cAa>cGa	p.Q453R	IPO5_ENST00000539640.1_Missense_Mutation_p.Q328R|IPO5_ENST00000261574.5_Missense_Mutation_p.Q471R			O00410	IPO5_HUMAN	importin 5	453					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						ATGGAAGACCAAGGCAATCAA	0.453																																						ENST00000261574.5																			0				breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						c.(1411-1413)cAa>cGa		importin 5							89.0	77.0	81.0					13																	98655152		2203	4300	6503	SO:0001583	missense	3843				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding	g.chr13:98655152A>G	U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"""Importins"""	6402	protein-coding gene	gene with protein product		602008	"""karyopherin (importin) beta 3"", ""RAN binding protein 5"""	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.1358A>G	13.37:g.98655152A>G	ENSP00000418393:p.Gln453Arg					IPO5_ENST00000539640.1_Missense_Mutation_p.Q328R|IPO5_ENST00000490680.1_Missense_Mutation_p.Q453R	p.Q471R	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN			16	1592	+			453					B4DZA0|O15257|Q5T578|Q86XC7	Missense_Mutation	SNP	ENST00000490680.1	37	c.1412A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.81|15.81	2.942338|2.942338	0.53079|0.53079	.|.	.|.	ENSG00000065150|ENSG00000065150	ENST00000469360|ENST00000261574;ENST00000357602;ENST00000490680;ENST00000539640	.|T;T;T;T	.|0.16743	.|2.32;2.32;2.32;2.32	5.72|5.72	5.72|5.72	0.89469|0.89469	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.22975|0.22975	0.0555|0.0555	L|L	0.49126|0.49126	1.545|1.545	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.23442	.|0.085;0.017;0.03	.|B;B;B	.|0.35770	.|0.21;0.039;0.085	T|T	0.04216|0.04216	-1.0968|-1.0968	5|10	.|0.25106	.|T	.|0.35	-17.1489|-17.1489	15.9975|15.9975	0.80262|0.80262	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|328;453;471	.|B4E0R6;O00410;O00410-3	.|.;IPO5_HUMAN;.	E|R	455|471;453;453;328	.|ENSP00000261574:Q471R;ENSP00000350219:Q453R;ENSP00000418393:Q453R;ENSP00000445126:Q328R	.|ENSP00000261574:Q471R	K|Q	+|+	1|2	0|0	IPO5|IPO5	97453153|97453153	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.257000|9.257000	0.95545|0.95545	2.170000|2.170000	0.68504|0.68504	0.460000|0.460000	0.39030|0.39030	AAG|CAA		0.453	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1	NM_002271		6	20	6	20	---	---	---	---
TEP1	7011	broad.mit.edu	37	14	20856080	20856080	+	Missense_Mutation	SNP	G	G	A	rs552770900		TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr14:20856080G>A	ENST00000262715.5	-	18	2708	c.2668C>T	c.(2668-2670)Cct>Tct	p.P890S	TEP1_ENST00000556935.1_Missense_Mutation_p.P782S	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	890					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TGGGAAACAGGAGCCAAGGGG	0.542																																						ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(2668-2670)Cct>Tct		telomerase-associated protein 1							95.0	91.0	92.0					14																	20856080		2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20856080G>A		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.2668C>T	14.37:g.20856080G>A	ENSP00000262715:p.Pro890Ser					TEP1_ENST00000556935.1_Missense_Mutation_p.P782S	p.P890S	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	18	2708	-	all_cancers(95;0.00123)	all_lung(585;0.235)	890					A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.2668C>T	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	g	9.320	1.057919	0.19987	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.48836	0.81;0.8	5.47	1.69	0.24217	.	0.235735	0.33732	N	0.004612	T	0.35508	0.0934	L	0.40543	1.245	0.26428	N	0.975984	B;B;B	0.24721	0.033;0.11;0.02	B;B;B	0.26770	0.032;0.073;0.014	T	0.22312	-1.0220	10	0.42905	T	0.14	-4.5293	8.2025	0.31432	0.3196:0.0:0.6804:0.0	.	782;240;890	G3V5X7;G3V2A4;Q99973	.;.;TEP1_HUMAN	S	890;890;782	ENSP00000262715:P890S;ENSP00000452574:P782S	ENSP00000262715:P890S	P	-	1	0	TEP1	19925920	0.720000	0.27996	0.738000	0.30950	0.395000	0.30598	0.250000	0.18235	0.048000	0.15891	-0.897000	0.02905	CCT		0.542	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		17	88	17	88	---	---	---	---
VRTN	55237	broad.mit.edu	37	14	74825501	74825501	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr14:74825501A>T	ENST00000256362.4	+	2	2256	c.2015A>T	c.(2014-2016)aAg>aTg	p.K672M		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	672					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CCCTCCTACAAGGAGTTCAGT	0.567																																						ENST00000256362.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(2014-2016)aAg>aTg		vertebrae development associated							84.0	68.0	73.0					14																	74825501		2203	4300	6503	SO:0001583	missense	55237				transposition, DNA-mediated		DNA binding|transposase activity	g.chr14:74825501A>T	AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 115"", ""vertebrae development homolog (pig)"""	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.2015A>T	14.37:g.74825501A>T	ENSP00000256362:p.Lys672Met						p.K672M	NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN			2	2256	+			672					Q9NVC7	Missense_Mutation	SNP	ENST00000256362.4	37	c.2015A>T	CCDS9830.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.235891	0.79800	.	.	ENSG00000133980	ENST00000256362	T	0.61392	0.11	4.27	4.27	0.50696	.	0.000000	0.85682	U	0.000000	T	0.64897	0.2640	L	0.32530	0.975	0.52099	D	0.999945	D	0.89917	1.0	D	0.85130	0.997	T	0.68432	-0.5410	10	0.87932	D	0	-24.4381	12.1709	0.54157	1.0:0.0:0.0:0.0	.	672	Q9H8Y1	VRTN_HUMAN	M	672	ENSP00000256362:K672M	ENSP00000256362:K672M	K	+	2	0	VRTN	73895254	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.564000	0.73969	1.802000	0.52723	0.477000	0.44152	AAG		0.567	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228		24	74	24	74	---	---	---	---
SPTLC2	9517	broad.mit.edu	37	14	78021768	78021768	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr14:78021768C>A	ENST00000216484.2	-	8	1244	c.1051G>T	c.(1051-1053)Gcc>Tcc	p.A351S	SPTLC2_ENST00000556264.1_5'Flank	NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	351					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)	p.A351S(1)		kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)	GGGCCCAGGGCGCCAATGCTG	0.522																																						ENST00000216484.2																			1	Substitution - Missense(1)	p.A351S(1)	lung(1)	kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19						c.(1051-1053)Gcc>Tcc		serine palmitoyltransferase, long chain base subunit 2	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						89.0	93.0	92.0					14																	78021768		2203	4300	6503	SO:0001583	missense	9517					integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr14:78021768C>A	AB011098	CCDS9865.1	14q24.3	2014-09-17			ENSG00000100596	ENSG00000100596	2.3.1.50		11278	protein-coding gene	gene with protein product		605713				8921873, 9363775	Standard	NM_004863		Approved	KIAA0526, LCB2, LCB2A, hLCB2a	uc001xub.3	O15270		ENST00000216484.2:c.1051G>T	14.37:g.78021768C>A	ENSP00000216484:p.Ala351Ser						p.A351S	NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	8	1244	-			351					Q16685	Missense_Mutation	SNP	ENST00000216484.2	37	c.1051G>T	CCDS9865.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.7|26.7	4.761965|4.761965	0.89932|0.89932	.|.	.|.	ENSG00000100596|ENSG00000100596	ENST00000216484|ENST00000554901	D|.	0.91351|.	-2.83|.	4.89|4.89	4.89|4.89	0.63831|0.63831	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);|.	0.098770|.	0.64402|.	D|.	0.000001|.	T|T	0.73241|0.73241	0.3562|0.3562	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	P|.	0.44734|.	0.842|.	P|.	0.46339|.	0.513|.	T|T	0.71286|0.71286	-0.4638|-0.4638	10|5	0.51188|.	T|.	0.08|.	-13.1964|-13.1964	18.6117|18.6117	0.91288|0.91288	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	351|.	O15270|.	SPTC2_HUMAN|.	S|L	351|287	ENSP00000216484:A351S|.	ENSP00000216484:A351S|.	A|R	-|-	1|2	0|0	SPTLC2|SPTLC2	77091521|77091521	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.755000|5.755000	0.68750|0.68750	2.712000|2.712000	0.92718|0.92718	0.650000|0.650000	0.86243|0.86243	GCC|CGC		0.522	SPTLC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414030.1	NM_004863		3	99	3	99	---	---	---	---
FAM174B	400451	broad.mit.edu	37	15	93173520	93173520	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr15:93173520C>G	ENST00000327355.5	-	2	698	c.400G>C	c.(400-402)Gag>Cag	p.E134Q	FAM174B_ENST00000555748.1_5'UTR|FAM174B_ENST00000555696.1_5'UTR|FAM174B_ENST00000553393.1_5'UTR|FAM174B_ENST00000555064.1_5'UTR	NM_207446.2	NP_997329.2	Q3ZCQ3	F174B_HUMAN	family with sequence similarity 174, member B	134						integral component of membrane (GO:0016021)				endometrium(2)|lung(1)	3						TCCACTCGCTCTGCTGGAGTG	0.478																																						ENST00000327355.5																			0				endometrium(2)|lung(1)	3						c.(400-402)Gag>Cag		family with sequence similarity 174, member B							121.0	119.0	120.0					15																	93173520		2106	4220	6326	SO:0001583	missense	400451					integral to membrane		g.chr15:93173520C>G		CCDS45355.1	15q26.1	2012-10-03			ENSG00000185442	ENSG00000185442			34339	protein-coding gene	gene with protein product							Standard	NM_207446		Approved	LOC400451, MGC102891	uc010boe.3	Q3ZCQ3	OTTHUMG00000171744	ENST00000327355.5:c.400G>C	15.37:g.93173520C>G	ENSP00000329040:p.Glu134Gln					FAM174B_ENST00000553393.1_5'UTR|FAM174B_ENST00000555748.1_5'UTR|FAM174B_ENST00000555696.1_5'UTR|FAM174B_ENST00000555064.1_5'UTR	p.E134Q	NM_207446.2	NP_997329.2	Q3ZCQ3	F174B_HUMAN			2	698	-			134					Q3ZCR9|Q8NBH7	Missense_Mutation	SNP	ENST00000327355.5	37	c.400G>C	CCDS45355.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.322435	0.81580	.	.	ENSG00000185442	ENST00000327355	T	0.54071	0.59	5.38	5.38	0.77491	.	0.000000	0.64402	D	0.000001	T	0.72779	0.3503	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.75701	-0.3226	10	0.87932	D	0	-32.414	17.8724	0.88815	0.0:1.0:0.0:0.0	.	134	Q3ZCQ3	F174B_HUMAN	Q	134	ENSP00000329040:E134Q	ENSP00000329040:E134Q	E	-	1	0	FAM174B	90974524	1.000000	0.71417	0.894000	0.35097	0.520000	0.34377	6.837000	0.75354	2.525000	0.85131	0.591000	0.81541	GAG		0.478	FAM174B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414931.1	NM_207446		8	26	8	26	---	---	---	---
CDH5	1003	broad.mit.edu	37	16	66422319	66422319	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr16:66422319G>A	ENST00000341529.3	+	4	740	c.592G>A	c.(592-594)Gag>Aag	p.E198K	CDH5_ENST00000563425.2_Missense_Mutation_p.E198K	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	198	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	GAAGGGGAAAGAGTATTTTGC	0.527																																						ENST00000341529.3																			0				central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(592-594)Gag>Aag		cadherin 5, type 2 (vascular endothelium)							244.0	197.0	213.0					16																	66422319		2202	4300	6502	SO:0001583	missense	1003				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	g.chr16:66422319G>A	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"""CD molecules"", ""Cadherins / Major cadherins"""	1764	protein-coding gene	gene with protein product	"""VE-cadherin"""	601120	"""cadherin 5, type 2, VE-cadherin (vascular epithelium)"""			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.592G>A	16.37:g.66422319G>A	ENSP00000344115:p.Glu198Lys					CDH5_ENST00000563425.2_Missense_Mutation_p.E198K	p.E198K	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)	4	740	+		Ovarian(137;0.0955)	198			Cadherin 2.		Q4VAI5|Q4VAI6	Missense_Mutation	SNP	ENST00000341529.3	37	c.592G>A	CCDS10804.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.049415	0.55218	.	.	ENSG00000179776	ENST00000341529;ENST00000379531	T	0.51071	0.72	5.46	3.49	0.39957	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.33990	0.0882	N	0.16567	0.415	0.54753	D	0.999988	B	0.24576	0.106	B	0.32289	0.143	T	0.25117	-1.0141	9	0.62326	D	0.03	.	10.2436	0.43328	0.1623:0.0:0.8377:0.0	.	198	P33151	CADH5_HUMAN	K	198	ENSP00000344115:E198K	ENSP00000344115:E198K	E	+	1	0	CDH5	64979820	0.973000	0.33851	0.043000	0.18650	0.932000	0.56968	2.492000	0.45311	1.296000	0.44742	0.563000	0.77884	GAG		0.527	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795		23	122	23	122	---	---	---	---
CYP2S1	29785	broad.mit.edu	37	19	41704492	41704492	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr19:41704492G>C	ENST00000310054.4	+	4	835	c.619G>C	c.(619-621)Ggt>Cgt	p.G207R	CYP2S1_ENST00000542619.1_Intron	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	207					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						GGCAGCTGGTGGTACCCTGCT	0.627																																						ENST00000310054.4																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						c.(619-621)Ggt>Cgt		cytochrome P450, family 2, subfamily S, polypeptide 1							80.0	75.0	77.0					19																	41704492		2203	4300	6503	SO:0001583	missense	29785				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity	g.chr19:41704492G>C	AA301039	CCDS12573.1	19q13.2	2013-11-11	2003-01-14		ENSG00000167600	ENSG00000167600		"""Cytochrome P450s"""	15654	protein-coding gene	gene with protein product		611529	"""cytochrome P450, subfamily IIS, polypeptide 1"""			11181079	Standard	NM_030622		Approved		uc002opw.3	Q96SQ9	OTTHUMG00000182721	ENST00000310054.4:c.619G>C	19.37:g.41704492G>C	ENSP00000308032:p.Gly207Arg					CYP2S1_ENST00000542619.1_Intron	p.G207R	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN			4	835	+			207					Q9BZ66	Missense_Mutation	SNP	ENST00000310054.4	37	c.619G>C	CCDS12573.1	.	.	.	.	.	.	.	.	.	.	g	14.18	2.457292	0.43634	.	.	ENSG00000167600	ENST00000301173;ENST00000310054	T	0.68181	-0.31	5.06	4.02	0.46733	.	0.540152	0.19347	U	0.116514	T	0.65637	0.2710	N	0.21097	0.63	0.19945	N	0.999949	D	0.59767	0.986	P	0.61132	0.884	T	0.56366	-0.7991	10	0.54805	T	0.06	.	9.5264	0.39167	0.099:0.0:0.901:0.0	.	207	Q96SQ9	CP2S1_HUMAN	R	207	ENSP00000308032:G207R	ENSP00000301173:G207R	G	+	1	0	CYP2S1	46396332	0.426000	0.25506	0.006000	0.13384	0.714000	0.41099	2.316000	0.43761	1.134000	0.42165	0.306000	0.20318	GGT		0.627	CYP2S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463287.1			8	114	8	114	---	---	---	---
PLEKHA4	57664	broad.mit.edu	37	19	49364696	49364696	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr19:49364696C>A	ENST00000263265.6	-	5	883	c.328G>T	c.(328-330)Ggg>Tgg	p.G110W	PLEKHA4_ENST00000596713.1_5'Flank|PLEKHA4_ENST00000355496.5_Missense_Mutation_p.G110W	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	110	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		GCTCCCGGCCCATCTGGTCTA	0.612																																						ENST00000263265.6																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30						c.(328-330)Ggg>Tgg		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4							48.0	61.0	56.0					19																	49364696		2203	4300	6503	SO:0001583	missense	57664					cytoplasm|membrane	1-phosphatidylinositol binding	g.chr19:49364696C>A	AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"""Pleckstrin homology (PH) domain containing"""	14339	protein-coding gene	gene with protein product		607769	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"""			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.328G>T	19.37:g.49364696C>A	ENSP00000263265:p.Gly110Trp					PLEKHA4_ENST00000355496.5_Missense_Mutation_p.G110W	p.G110W	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)	5	883	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)	110			PH.		Q8N4M8|Q8N658	Missense_Mutation	SNP	ENST00000263265.6	37	c.328G>T	CCDS12737.1	.	.	.	.	.	.	.	.	.	.	c	19.79	3.892927	0.72524	.	.	ENSG00000105559	ENST00000263265;ENST00000355496	T;T	0.75821	-0.97;-0.97	4.56	4.56	0.56223	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.424077	0.22724	N	0.056413	D	0.86698	0.5995	M	0.83603	2.65	0.32589	N	0.5275	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	D	0.89775	0.3957	10	0.87932	D	0	.	15.2385	0.73450	0.0:1.0:0.0:0.0	.	110;110	Q9H4M7-2;Q9H4M7	.;PKHA4_HUMAN	W	110	ENSP00000263265:G110W;ENSP00000347683:G110W	ENSP00000263265:G110W	G	-	1	0	PLEKHA4	54056508	0.881000	0.30235	1.000000	0.80357	0.992000	0.81027	3.609000	0.54117	2.548000	0.85928	0.457000	0.33378	GGG		0.612	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466216.1			7	78	7	78	---	---	---	---
CLCNKB	1188	broad.mit.edu	37	1	16375645	16375646	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr1:16375645_16375646delCC	ENST00000375679.4	+	8	797_798	c.686_687delCC	c.(685-687)tccfs	p.S229fs	CLCNKB_ENST00000375667.3_Frame_Shift_Del_p.S60fs	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	229					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		GTCATGTCTTCCCACTTCTCTG	0.634																																						ENST00000375679.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21						c.(685-687)tccfs		chloride channel, voltage-sensitive Kb																																				SO:0001589	frameshift_variant	1188							g.chr1:16375645_16375646delCC	AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"""Ion channels / Chloride channels : Voltage-sensitive"""	2027	protein-coding gene	gene with protein product		602023	"""chloride channel Kb"""				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.686_687delCC	1.37:g.16375645_16375646delCC	ENSP00000364831:p.Ser229fs					CLCNKB_ENST00000375667.3_Frame_Shift_Del_p.S60fs	p.S229fs	NM_000085.4	NP_000076.2				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	8	797_798	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)						B3KUY3|Q5T5Q7|Q5T5Q8	Frame_Shift_Del	DEL	ENST00000375679.4	37	c.686_687delCC	CCDS168.1																																																																																				0.634	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026331.1	NM_000085		23	131	23	131	---	---	---	---
