#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
EPHA8	2046	broad.mit.edu	37	1	22924681	22924681	+	Silent	SNP	C	C	T			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr1:22924681C>T	ENST00000166244.3	+	12	2226	c.2154C>T	c.(2152-2154)aaC>aaT	p.N718N		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	718	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ACATGGAGAACGGCTCTCTGG	0.617																																						ENST00000166244.3																			0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(2152-2154)aaC>aaT		EPH receptor A8							128.0	122.0	124.0					1																	22924681		2203	4300	6503	SO:0001819	synonymous_variant	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22924681C>T	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.2154C>T	1.37:g.22924681C>T							p.N718N	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	12	2226	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	718			Protein kinase.		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Silent	SNP	ENST00000166244.3	37	c.2154C>T	CCDS225.1																																																																																				0.617	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		4	137	4	137	---	---	---	---
SPATA45	149643	broad.mit.edu	37	1	213009355	213009355	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr1:213009355A>G	ENST00000332912.3	-	2	244	c.137T>C	c.(136-138)gTt>gCt	p.V46A		NM_001024601.2	NP_001019772.1	Q537H7	SPT45_HUMAN		46										kidney(1)|large_intestine(1)|lung(1)	3						CCTCTTTTGAACTCTCAGTAA	0.468																																						ENST00000332912.3																			0				kidney(1)|large_intestine(1)|lung(1)	3						c.(136-138)gTt>gCt		chromosome 1 open reading frame 227							193.0	178.0	183.0					1																	213009355		2203	4297	6500	SO:0001583	missense	149643							g.chr1:213009355A>G																												ENST00000332912.3:c.137T>C	1.37:g.213009355A>G	ENSP00000419160:p.Val46Ala						p.V46A	NM_001024601.2	NP_001019772.1	Q537H7	CA227_HUMAN			2	244	-			46						Missense_Mutation	SNP	ENST00000332912.3	37	c.137T>C	CCDS31020.1	.	.	.	.	.	.	.	.	.	.	A	11.17	1.560153	0.27827	.	.	ENSG00000185523	ENST00000332912	T	0.54279	0.58	4.71	1.2	0.21068	.	0.912566	0.09165	N	0.839618	T	0.34424	0.0897	.	.	.	0.09310	N	1	B	0.13594	0.008	B	0.14578	0.011	T	0.23261	-1.0193	9	0.25106	T	0.35	-0.1969	5.9831	0.19419	0.6389:0.0:0.3611:0.0	.	46	Q537H7	CA227_HUMAN	A	46	ENSP00000419160:V46A	ENSP00000419160:V46A	V	-	2	0	C1orf227	211075978	0.233000	0.23772	0.133000	0.22050	0.990000	0.78478	-0.025000	0.12413	0.201000	0.20466	0.528000	0.53228	GTT		0.468	C1orf227-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089672.2			22	130	22	130	---	---	---	---
TRMT61B	55006	broad.mit.edu	37	2	29074004	29074004	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr2:29074004C>T	ENST00000306108.5	-	5	1269	c.1246G>A	c.(1246-1248)Gat>Aat	p.D416N	TRMT61B_ENST00000484060.1_5'Flank	NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	416					mitochondrial tRNA methylation (GO:0070901)|protein homooligomerization (GO:0051260)	mitochondrion (GO:0005739)|tRNA (m1A) methyltransferase complex (GO:0031515)	tRNA (adenine-N1-)-methyltransferase activity (GO:0016429)			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						AGTTGTACATCTGTGTTGATT	0.358																																						ENST00000306108.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						c.(1246-1248)Gat>Aat		tRNA methyltransferase 61 homolog B (S. cerevisiae)							116.0	106.0	109.0					2																	29074004		2203	4300	6503	SO:0001583	missense	55006						tRNA (adenine-N1-)-methyltransferase activity	g.chr2:29074004C>T	BC010365	CCDS1768.1	2p23.2	2009-01-09			ENSG00000171103	ENSG00000171103			26070	protein-coding gene	gene with protein product						11230166	Standard	NM_017910		Approved	FLJ20628	uc002rmm.3	Q9BVS5	OTTHUMG00000128433	ENST00000306108.5:c.1246G>A	2.37:g.29074004C>T	ENSP00000302801:p.Asp416Asn						p.D416N	NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN			5	1269	-			416					Q9H0Q9|Q9NWS7	Missense_Mutation	SNP	ENST00000306108.5	37	c.1246G>A	CCDS1768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.036|6.036	0.374918|0.374918	0.11409|0.11409	.|.	.|.	ENSG00000171103|ENSG00000171103	ENST00000306108|ENST00000419999	T|.	0.23348|.	1.91|.	5.61|5.61	3.81|3.81	0.43845|0.43845	.|.	0.307898|.	0.25394|.	N|.	0.030989|.	T|T	0.41743|0.41743	0.1172|0.1172	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	0.999996|0.999996	B|.	0.23442|.	0.085|.	B|.	0.23275|.	0.045|.	T|T	0.22417|0.22417	-1.0217|-1.0217	10|5	0.45353|.	T|.	0.12|.	.|.	11.5764|11.5764	0.50864|0.50864	0.0:0.8539:0.0:0.1461|0.0:0.8539:0.0:0.1461	.|.	416|.	Q9BVS5|.	TR61B_HUMAN|.	N|K	416|49	ENSP00000302801:D416N|.	ENSP00000302801:D416N|.	D|R	-|-	1|2	0|0	TRMT61B|TRMT61B	28927508|28927508	0.378000|0.378000	0.25114|0.25114	0.107000|0.107000	0.21349|0.21349	0.009000|0.009000	0.06853|0.06853	0.759000|0.759000	0.26461|0.26461	0.725000|0.725000	0.32318|0.32318	-0.143000|-0.143000	0.13931|0.13931	GAT|AGA		0.358	TRMT61B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250224.1	NM_017910		4	43	4	43	---	---	---	---
PPP1R21	129285	broad.mit.edu	37	2	48718172	48718172	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr2:48718172A>G	ENST00000294952.8	+	15	1619	c.1462A>G	c.(1462-1464)Agc>Ggc	p.S488G	PPP1R21_ENST00000449090.2_Missense_Mutation_p.S488G|PPP1R21_ENST00000281394.4_Missense_Mutation_p.S488G	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21	488						membrane (GO:0016020)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(4)|lung(9)	15						ATCCTTCTTCAGCAACAATTT	0.343																																						ENST00000294952.8																			0				endometrium(2)|kidney(4)|lung(9)	15						c.(1462-1464)Agc>Ggc		protein phosphatase 1, regulatory subunit 21							133.0	125.0	128.0					2																	48718172		2203	4300	6503	SO:0001583	missense	129285							g.chr2:48718172A>G	AY134855	CCDS1839.1, CCDS46278.1, CCDS54358.1	2p16.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000162869	ENSG00000162869		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30595	protein-coding gene	gene with protein product			"""coiled-coil domain containing 128"", ""KLRAQ motif containing 1"""	CCDC128, KLRAQ1		12477932	Standard	NM_001135629		Approved	FLJ16566	uc002rwm.3	Q6ZMI0	OTTHUMG00000129167	ENST00000294952.8:c.1462A>G	2.37:g.48718172A>G	ENSP00000294952:p.Ser488Gly					PPP1R21_ENST00000281394.4_Missense_Mutation_p.S488G|PPP1R21_ENST00000449090.2_Missense_Mutation_p.S488G	p.S488G	NM_001135629.2	NP_001129101.1	Q6ZMI0	KLRAQ_HUMAN			15	1619	+			488					B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	Missense_Mutation	SNP	ENST00000294952.8	37	c.1462A>G	CCDS46278.1	.	.	.	.	.	.	.	.	.	.	A	13.00	2.107167	0.37145	.	.	ENSG00000162869	ENST00000281394;ENST00000294952;ENST00000449090	.	.	.	5.51	3.04	0.35103	.	0.144521	0.85682	N	0.000000	T	0.35998	0.0951	L	0.29908	0.895	0.34881	D	0.744577	B;B;B;B	0.06786	0.001;0.0;0.001;0.001	B;B;B;B	0.09377	0.0;0.0;0.0;0.004	T	0.32402	-0.9908	9	0.23891	T	0.37	-1.8395	8.655	0.34058	0.7877:0.0:0.2123:0.0	.	488;488;488;488	E1B6W7;Q6ZMI0;Q6ZMI0-2;Q6ZMI0-3	.;PPR21_HUMAN;.;.	G	488	.	ENSP00000281394:S488G	S	+	1	0	KLRAQ1	48571676	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.441000	0.66569	0.423000	0.26033	0.528000	0.53228	AGC		0.343	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251238.4	NM_152994		19	112	19	112	---	---	---	---
EIF2AK3	9451	broad.mit.edu	37	2	88887559	88887559	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr2:88887559T>C	ENST00000303236.3	-	8	1671	c.1370A>G	c.(1369-1371)gAt>gGt	p.D457G	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.D306G	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	457					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)	p.D457G(1)		ovary(3)	3						AGAAAACTTATCATTACTGAG	0.264																																					GBM(138;671 1851 16235 39058 45249)	ENST00000303236.3																			1	Substitution - Missense(1)	p.D457G(1)	central_nervous_system(1)	ovary(3)	3						c.(1369-1371)gAt>gGt		eukaryotic translation initiation factor 2-alpha kinase 3							47.0	52.0	50.0					2																	88887559		2203	4280	6483	SO:0001583	missense	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.chr2:88887559T>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.1370A>G	2.37:g.88887559T>C	ENSP00000307235:p.Asp457Gly					EIF2AK3_ENST00000419748.1_Missense_Mutation_p.D306G	p.D457G	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN			8	1671	-			457					A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Missense_Mutation	SNP	ENST00000303236.3	37	c.1370A>G	CCDS33241.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.710831	0.89112	.	.	ENSG00000172071	ENST00000419748;ENST00000303236;ENST00000535951;ENST00000415570	T;T;T	0.45668	0.89;0.89;0.89	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.63153	0.2487	M	0.62723	1.935	0.58432	D	0.999995	D	0.89917	1.0	D	0.83275	0.996	T	0.65643	-0.6118	10	0.72032	D	0.01	-29.8156	16.1986	0.82053	0.0:0.0:0.0:1.0	.	457	Q9NZJ5	E2AK3_HUMAN	G	306;457;306;336	ENSP00000408325:D306G;ENSP00000307235:D457G;ENSP00000412076:D336G	ENSP00000307235:D457G	D	-	2	0	EIF2AK3	88668674	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.697000	0.84279	2.227000	0.72691	0.455000	0.32223	GAT		0.264	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2	NM_004836		5	91	5	91	---	---	---	---
CCR2	729230	broad.mit.edu	37	3	46399500	46399500	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr3:46399500G>T	ENST00000400888.2	+	1	521	c.482G>T	c.(481-483)aGt>aTt	p.S161I	CCR2_ENST00000292301.4_Missense_Mutation_p.S161I|CCR2_ENST00000465202.1_Intron|CCR2_ENST00000445132.2_Missense_Mutation_p.S161I			P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	161					blood vessel remodeling (GO:0001974)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular homeostasis (GO:0019725)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JAK-STAT cascade (GO:0007259)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of angiogenesis (GO:0016525)|negative regulation of eosinophil degranulation (GO:0043310)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of astrocyte chemotaxis (GO:2000464)|positive regulation of CD8-positive, alpha-beta T cell extravasation (GO:2000451)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of immune complex clearance by monocytes and macrophages (GO:0090265)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of monocyte extravasation (GO:2000439)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of vascular endothelial growth factor production (GO:0010574)|response to wounding (GO:0009611)|T-helper 17 cell chemotaxis (GO:0035705)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|CCR2 chemokine receptor binding (GO:0031727)|chemokine receptor activity (GO:0004950)|protein homodimerization activity (GO:0042803)			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		GTGGTGACAAGTGTGATCACC	0.443																																						ENST00000292301.4																			0				breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14						c.(481-483)aGt>aTt		chemokine (C-C motif) receptor 2							339.0	311.0	320.0					3																	46399500		1568	3582	5150	SO:0001583	missense	729230				astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity	g.chr3:46399500G>T		CCDS43078.1, CCDS46813.1	3p21	2012-08-08			ENSG00000121807	ENSG00000121807		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1603	protein-coding gene	gene with protein product		601267		CMKBR2		8146186	Standard	NM_001123041		Approved	CC-CKR-2, CKR2, MCP-1-R, CD192, FLJ78302	uc003cpn.4	P41597	OTTHUMG00000156466	ENST00000400888.2:c.482G>T	3.37:g.46399500G>T	ENSP00000383681:p.Ser161Ile					CCR2_ENST00000400888.2_Missense_Mutation_p.S161I|CCR2_ENST00000445132.2_Missense_Mutation_p.S161I|CCR2_ENST00000465202.1_Intron	p.S161I	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)	2	967	+			161					A0AVQ3|B2RMT0|Q4VBL2	Missense_Mutation	SNP	ENST00000400888.2	37	c.482G>T	CCDS43078.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.463941	0.63513	.	.	ENSG00000121807	ENST00000445132;ENST00000292301;ENST00000400888	T;T;T	0.66460	-0.21;-0.21;-0.21	4.77	4.77	0.60923	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.73992	0.3658	M	0.77820	2.39	0.47547	D	0.99945	P;B	0.40909	0.732;0.183	B;B	0.44278	0.445;0.314	T	0.79638	-0.1720	10	0.87932	D	0	.	18.1649	0.89722	0.0:0.0:1.0:0.0	.	161;161	P41597;Q4VBL2	CCR2_HUMAN;.	I	161	ENSP00000399285:S161I;ENSP00000292301:S161I;ENSP00000383681:S161I	ENSP00000292301:S161I	S	+	2	0	CCR2	46374504	0.940000	0.31905	1.000000	0.80357	0.992000	0.81027	2.938000	0.48987	2.361000	0.80049	0.650000	0.86243	AGT		0.443	CCR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344292.1	NM_000647		5	253	5	253	---	---	---	---
GPR150	285601	broad.mit.edu	37	5	94956112	94956112	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr5:94956112C>G	ENST00000380007.2	+	1	331	c.133C>G	c.(133-135)Cgc>Ggc	p.R45G		NM_199243.1	NP_954713.1	Q8NGU9	GP150_HUMAN	G protein-coupled receptor 150	45						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			lung(2)	2		all_cancers(142;0.000462)|all_epithelial(76;2.44e-06)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)		all cancers(79;1.82e-16)		CCGCCGCGTCCGCCTGGTGTT	0.726																																						ENST00000380007.2																			0				lung(2)	2						c.(133-135)Cgc>Ggc		G protein-coupled receptor 150							11.0	15.0	14.0					5																	94956112		2063	4118	6181	SO:0001583	missense	285601					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr5:94956112C>G	BC030197	CCDS4074.1	5q15	2012-08-21			ENSG00000178015	ENSG00000178015		"""GPCR / Class A : Orphans"""	23628	protein-coding gene	gene with protein product						12679517	Standard	NM_199243		Approved	PGR11	uc003kle.1	Q8NGU9	OTTHUMG00000121170	ENST00000380007.2:c.133C>G	5.37:g.94956112C>G	ENSP00000369344:p.Arg45Gly						p.R45G	NM_199243.1	NP_954713.1	Q8NGU9	GP150_HUMAN		all cancers(79;1.82e-16)	1	331	+		all_cancers(142;0.000462)|all_epithelial(76;2.44e-06)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)	45						Missense_Mutation	SNP	ENST00000380007.2	37	c.133C>G	CCDS4074.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.215781	0.39102	.	.	ENSG00000178015	ENST00000380007	T	0.37235	1.21	4.23	3.34	0.38264	.	0.282328	0.24102	N	0.041522	T	0.26412	0.0645	N	0.24115	0.695	0.26560	N	0.973756	P	0.39216	0.664	B	0.39379	0.298	T	0.09400	-1.0676	10	0.46703	T	0.11	-5.1309	12.2645	0.54670	0.1717:0.8283:0.0:0.0	.	45	Q8NGU9	GP150_HUMAN	G	45	ENSP00000369344:R45G	ENSP00000369344:R45G	R	+	1	0	GPR150	94981868	0.000000	0.05858	0.995000	0.50966	0.585000	0.36419	0.432000	0.21461	0.990000	0.38787	0.456000	0.33151	CGC		0.726	GPR150-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241657.2			6	25	6	25	---	---	---	---
FAT2	2196	broad.mit.edu	37	5	150947124	150947124	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr5:150947124G>A	ENST00000261800.5	-	1	1381	c.1369C>T	c.(1369-1371)Ctc>Ttc	p.L457F		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	457	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGTTGAAGAGGGGGGCATGG	0.552																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(1369-1371)Ctc>Ttc		FAT atypical cadherin 2							122.0	122.0	122.0					5																	150947124		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150947124G>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.1369C>T	5.37:g.150947124G>A	ENSP00000261800:p.Leu457Phe						p.L457F	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	1381	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	457			Cadherin 3.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.1369C>T	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	6.459	0.452859	0.12283	.	.	ENSG00000086570	ENST00000261800	T	0.61627	0.09	5.72	-9.11	0.00711	Cadherin (2);Cadherin-like (1);	1.292390	0.05102	N	0.487321	T	0.36826	0.0981	N	0.19112	0.55	0.09310	N	1	B	0.23735	0.09	B	0.16289	0.015	T	0.40421	-0.9564	10	0.09590	T	0.72	.	16.6725	0.85271	0.0:0.6488:0.0855:0.2657	.	457	Q9NYQ8	FAT2_HUMAN	F	457	ENSP00000261800:L457F	ENSP00000261800:L457F	L	-	1	0	FAT2	150927317	0.000000	0.05858	0.096000	0.21009	0.494000	0.33585	-0.668000	0.05268	-1.642000	0.01521	-1.048000	0.02349	CTC		0.552	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		4	135	4	135	---	---	---	---
PLEKHG1	57480	broad.mit.edu	37	6	151152162	151152162	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr6:151152162G>A	ENST00000358517.2	+	15	2126	c.1915G>A	c.(1915-1917)Ggg>Agg	p.G639R	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.G639R			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	639							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		CAAAACAGAAGGGCAGGAGGA	0.473																																						ENST00000367328.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53						c.(1915-1917)Ggg>Agg		pleckstrin homology domain containing, family G (with RhoGef domain) member 1							48.0	42.0	44.0					6																	151152162		2203	4300	6503	SO:0001583	missense	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151152162G>A	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.1915G>A	6.37:g.151152162G>A	ENSP00000351318:p.Gly639Arg					PLEKHG1_ENST00000358517.2_Missense_Mutation_p.G639R	p.G639R	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	16	2227	+			639					Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	37	c.1915G>A	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	G	7.192	0.591652	0.13812	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	T;T	0.58060	0.36;0.36	5.52	3.32	0.38043	.	0.750686	0.13444	N	0.387426	T	0.23289	0.0563	L	0.46157	1.445	0.09310	N	1	B;B;B	0.18741	0.03;0.004;0.004	B;B;B	0.12837	0.008;0.005;0.008	T	0.12993	-1.0526	10	0.30854	T	0.27	.	8.2037	0.31441	0.1261:0.2697:0.6042:0.0	.	446;639;639	Q5EBL9;Q5JYA6;Q9ULL1	.;.;PKHG1_HUMAN	R	639	ENSP00000356297:G639R;ENSP00000351318:G639R	ENSP00000351318:G639R	G	+	1	0	PLEKHG1	151193855	0.028000	0.19301	0.002000	0.10522	0.014000	0.08584	1.884000	0.39668	1.277000	0.44412	0.555000	0.69702	GGG		0.473	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			4	26	4	26	---	---	---	---
CYP7A1	1581	broad.mit.edu	37	8	59410894	59410894	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr8:59410894A>G	ENST00000301645.3	-	2	352	c.215T>C	c.(214-216)aTg>aCg	p.M72T		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	72					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cholesterol catabolic process (GO:0006707)|cholesterol homeostasis (GO:0042632)|regulation of bile acid biosynthetic process (GO:0070857)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	cholesterol 7-alpha-monooxygenase activity (GO:0008123)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				ATATTTTCCCATTAGTTTGCA	0.388									Neonatal Giant Cell Hepatitis																													ENST00000301645.3																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34						c.(214-216)aTg>aCg		cytochrome P450, family 7, subfamily A, polypeptide 1							144.0	144.0	144.0					8																	59410894		2203	4300	6503	SO:0001583	missense	1581	Neonatal Giant Cell Hepatitis	Familial Cancer Database	Neonatal Hemochromatosis	bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding	g.chr8:59410894A>G	M89803	CCDS6171.1	8q11-q12	2010-05-04	2003-01-14		ENSG00000167910	ENSG00000167910	1.14.13.17	"""Cytochrome P450s"""	2651	protein-coding gene	gene with protein product	"""cholesterol 7 alpha-monooxygenase"""	118455	"""cytochrome P450, subfamily VIIA (cholesterol 7 alpha-monooxygenase), polypeptide 1"""	CYP7		1358792	Standard	NM_000780		Approved		uc003xtm.4	P22680	OTTHUMG00000164301	ENST00000301645.3:c.215T>C	8.37:g.59410894A>G	ENSP00000301645:p.Met72Thr						p.M72T	NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN			2	352	-		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)	72					P78454|Q3MIL8|Q7KZ19	Missense_Mutation	SNP	ENST00000301645.3	37	c.215T>C	CCDS6171.1	.	.	.	.	.	.	.	.	.	.	A	15.29	2.790626	0.50102	.	.	ENSG00000167910	ENST00000301645	T	0.68479	-0.33	5.9	5.9	0.94986	.	0.087582	0.85682	D	0.000000	T	0.65123	0.2661	L	0.51422	1.61	0.40036	D	0.975599	B	0.23185	0.081	B	0.39185	0.293	T	0.67047	-0.5769	10	0.62326	D	0.03	-24.0199	6.3055	0.21137	0.81:0.0:0.19:0.0	.	72	P22680	CP7A1_HUMAN	T	72	ENSP00000301645:M72T	ENSP00000301645:M72T	M	-	2	0	CYP7A1	59573448	1.000000	0.71417	0.996000	0.52242	0.933000	0.57130	7.640000	0.83355	2.254000	0.74563	0.482000	0.46254	ATG		0.388	CYP7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378190.1	NM_000780		33	134	33	134	---	---	---	---
CCDC180	100499483	broad.mit.edu	37	9	100071830	100071830	+	Silent	SNP	G	G	A			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr9:100071830G>A	ENST00000357054.1	+	17	1688	c.753G>A	c.(751-753)caG>caA	p.Q251Q	CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000375202.2_Silent_p.Q112Q|CCDC180_ENST00000395220.1_Silent_p.Q251Q|CCDC180_ENST00000411667.2_Silent_p.Q112Q|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000529487.1_Silent_p.Q112Q			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	251						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											CCCGACAGCAGAAGTGGATGC	0.572																																						ENST00000375202.2																			0											c.(334-336)caG>caA		coiled-coil domain containing 180							101.0	80.0	88.0					9																	100071830		2203	4300	6503	SO:0001819	synonymous_variant	100499483							g.chr9:100071830G>A	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.753G>A	9.37:g.100071830G>A						CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000395220.1_Silent_p.Q251Q|CCDC180_ENST00000411667.2_Silent_p.Q112Q|CCDC180_ENST00000357054.1_Silent_p.Q251Q|CCDC180_ENST00000529487.1_Silent_p.Q112Q|RP11-23J9.4_ENST00000534123.1_RNA	p.Q112Q							17	1688	+								Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Silent	SNP	ENST00000357054.1	37	c.336G>A																																																																																					0.572	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		8	72	8	72	---	---	---	---
INVS	27130	broad.mit.edu	37	9	103055173	103055173	+	Silent	SNP	T	T	C			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr9:103055173T>C	ENST00000262457.2	+	14	2819	c.2634T>C	c.(2632-2634)gaT>gaC	p.D878D	INVS_ENST00000541287.1_Silent_p.D782D|INVS_ENST00000262456.2_Intron	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	878					embryonic heart tube left/right pattern formation (GO:0060971)|kidney development (GO:0001822)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|pancreas development (GO:0031016)|post-embryonic development (GO:0009791)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				AGGAGACTGATCCAGCACCTG	0.527																																						ENST00000262457.2																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(2632-2634)gaT>gaC		inversin							90.0	92.0	91.0					9																	103055173		2203	4300	6503	SO:0001819	synonymous_variant	27130				negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding	g.chr9:103055173T>C	AF039217	CCDS6746.1, CCDS6747.1	9q31	2013-01-10	2003-08-11		ENSG00000119509	ENSG00000119509		"""Ankyrin repeat domain containing"""	17870	protein-coding gene	gene with protein product	"""nephrocystin 2"""	243305	"""nephronophthisis 2 (infantile)"""	NPHP2		12872123	Standard	NM_014425		Approved		uc004bap.2	Q9Y283	OTTHUMG00000020364	ENST00000262457.2:c.2634T>C	9.37:g.103055173T>C						INVS_ENST00000541287.1_Silent_p.D782D|INVS_ENST00000262456.2_Intron	p.D878D	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN			14	2819	+		Acute lymphoblastic leukemia(62;0.056)	878					A2A2Y2|Q2NKL0|Q5W0T6|Q8IVX8|Q9BRB9|Q9Y488|Q9Y498	Silent	SNP	ENST00000262457.2	37	c.2634T>C	CCDS6746.1																																																																																				0.527	INVS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053407.1	NM_014425		3	56	3	56	---	---	---	---
MURC	347273	broad.mit.edu	37	9	103348314	103348314	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr9:103348314G>T	ENST00000307584.5	+	2	741	c.676G>T	c.(676-678)Gtg>Ttg	p.V226L		NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	226					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Z disc (GO:0030018)				endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				AACTAGAATAGTGACCCCGGA	0.458																																						ENST00000307584.5																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16						c.(676-678)Gtg>Ttg		muscle-related coiled-coil protein							110.0	119.0	116.0					9																	103348314		2203	4300	6503	SO:0001583	missense	347273				cell differentiation|muscle organ development|transcription, DNA-dependent			g.chr9:103348314G>T	BC090888	CCDS35083.1	9q31.1	2014-09-17			ENSG00000170681	ENSG00000170681			33742	protein-coding gene	gene with protein product	"""muscle-restricted coiled-coil protein"""					18508909, 18332105	Standard	NM_001018116		Approved	cavin-4, CAVIN4	uc004bba.3	Q5BKX8	OTTHUMG00000020368	ENST00000307584.5:c.676G>T	9.37:g.103348314G>T	ENSP00000418668:p.Val226Leu						p.V226L	NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN			2	741	+		Acute lymphoblastic leukemia(62;0.0461)	226					B1PRL3|B4DT88	Missense_Mutation	SNP	ENST00000307584.5	37	c.676G>T	CCDS35083.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.538705	0.85917	.	.	ENSG00000170681	ENST00000307584	T	0.64438	-0.1	5.34	5.34	0.76211	.	0.057892	0.64402	D	0.000002	T	0.72431	0.3459	M	0.73962	2.25	0.46521	D	0.99908	P	0.50943	0.94	P	0.51135	0.66	T	0.76526	-0.2927	10	0.72032	D	0.01	-16.1643	16.873	0.86044	0.0:0.0:1.0:0.0	.	226	Q5BKX8	MURC_HUMAN	L	226	ENSP00000418668:V226L	ENSP00000418668:V226L	V	+	1	0	MURC	102388135	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.975000	0.63777	2.658000	0.90341	0.561000	0.74099	GTG		0.458	MURC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053419.2	NM_001018116		5	177	5	177	---	---	---	---
LRRC37A6P	387646	broad.mit.edu	37	10	27537935	27537935	+	lincRNA	SNP	T	T	G			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr10:27537935T>G	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							AGGCCTACTGTTCCTCTGGTG	0.507																																						ENST00000574842.1																			0																				9.0	8.0	8.0					10																	27537935		691	1591	2282			387646							g.chr10:27537935T>G																													10.37:g.27537935T>G						LRRC37A6P_ENST00000284414.4_RNA								0	255	+									RNA	SNP	ENST00000574842.1	37																																																																																						0.507	RP11-85G18.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000436904.1			3	131	3	131	---	---	---	---
C10orf90	118611	broad.mit.edu	37	10	128147783	128147783	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr10:128147783C>T	ENST00000284694.7	-	6	1843	c.1723G>A	c.(1723-1725)Gca>Aca	p.A575T	C10orf90_ENST00000544758.1_Missense_Mutation_p.A672T|C10orf90_ENST00000454341.1_Missense_Mutation_p.A478T|C10orf90_ENST00000480379.1_5'UTR|C10orf90_ENST00000356858.3_Missense_Mutation_p.A528T	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	575	ALMS motif. {ECO:0000250}.				mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		ACTTCCAGTGCTTCCTATGCA	0.483																																						ENST00000284694.7																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(1723-1725)Gca>Aca		chromosome 10 open reading frame 90							122.0	106.0	112.0					10																	128147783		2203	4300	6503	SO:0001583	missense	118611							g.chr10:128147783C>T	BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"""fragile-site associated tumor suppressor"""					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.1723G>A	10.37:g.128147783C>T	ENSP00000284694:p.Ala575Thr					C10orf90_ENST00000356858.3_Missense_Mutation_p.A528T|C10orf90_ENST00000480379.1_5'UTR|C10orf90_ENST00000544758.1_Missense_Mutation_p.A672T|C10orf90_ENST00000454341.1_Missense_Mutation_p.A478T	p.A575T	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)	6	1843	-		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)	575					B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP	ENST00000284694.7	37	c.1723G>A	CCDS31310.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.040731	0.55003	.	.	ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758;ENST00000432642	T;T;T;T	0.37235	1.78;1.94;1.83;1.21	4.87	4.87	0.63330	.	0.000000	0.43110	D	0.000607	T	0.58061	0.2096	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.60372	-0.7276	10	0.62326	D	0.03	-22.3707	14.8626	0.70392	0.0:1.0:0.0:0.0	.	672;575;478	F5GZL2;Q96M02;Q96M02-2	.;CJ090_HUMAN;.	T	528;575;478;672;575	ENSP00000284694:A575T;ENSP00000398786:A478T;ENSP00000444369:A672T;ENSP00000405995:A575T	ENSP00000284694:A575T	A	-	1	0	C10orf90	128137773	1.000000	0.71417	0.911000	0.35937	0.114000	0.19823	4.770000	0.62309	2.508000	0.84585	0.655000	0.94253	GCA		0.483	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298		4	72	4	72	---	---	---	---
OR5T3	390154	broad.mit.edu	37	11	56020136	56020136	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr11:56020136T>C	ENST00000303059.3	+	1	461	c.461T>C	c.(460-462)gTa>gCa	p.V154A		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	154						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					GATCACTATGTAGCCATCTAC	0.423																																						ENST00000303059.3																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39						c.(460-462)gTa>gCa		olfactory receptor, family 5, subfamily T, member 3							213.0	196.0	202.0					11																	56020136		2201	4295	6496	SO:0001583	missense	390154				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56020136T>C	AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"""GPCR / Class A : Olfactory receptors"""	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.461T>C	11.37:g.56020136T>C	ENSP00000305403:p.Val154Ala						p.V154A	NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN			1	461	+	Esophageal squamous(21;0.00448)		154					Q6IFC7	Missense_Mutation	SNP	ENST00000303059.3	37	c.461T>C	CCDS31524.1	.	.	.	.	.	.	.	.	.	.	T	11.77	1.736973	0.30774	.	.	ENSG00000172489	ENST00000303059	T	0.01139	5.28	4.65	2.23	0.28157	GPCR, rhodopsin-like superfamily (1);	0.365880	0.19382	N	0.115630	T	0.01124	0.0037	L	0.39692	1.235	0.24876	N	0.992254	B	0.19706	0.038	B	0.26614	0.071	T	0.48246	-0.9052	10	0.13108	T	0.6	.	5.3026	0.15785	0.1319:0.1517:0.0:0.7164	.	154	Q8NGG3	OR5T3_HUMAN	A	154	ENSP00000305403:V154A	ENSP00000305403:V154A	V	+	2	0	OR5T3	55776712	0.293000	0.24371	0.913000	0.36048	0.795000	0.44927	2.290000	0.43531	0.344000	0.23847	0.523000	0.50628	GTA		0.423	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391599.1	NM_001004747		7	173	7	173	---	---	---	---
OTUB1	55611	broad.mit.edu	37	11	63764357	63764357	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr11:63764357G>T	ENST00000538426.1	+	5	411	c.367G>T	c.(367-369)Gaa>Taa	p.E123*	OTUB1_ENST00000543004.1_Nonsense_Mutation_p.E132*|OTUB1_ENST00000541478.1_Intron|OTUB1_ENST00000543988.1_Nonsense_Mutation_p.E93*|OTUB1_ENST00000428192.2_Nonsense_Mutation_p.E123*|OTUB1_ENST00000422031.2_Nonsense_Mutation_p.E160*|OTUB1_ENST00000535715.1_Nonsense_Mutation_p.E123*	NM_017670.2	NP_060140.2	Q96FW1	OTUB1_HUMAN	OTU deubiquitinase, ubiquitin aldehyde binding 1	123	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|immune system process (GO:0002376)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein K48-linked deubiquitination (GO:0071108)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	NEDD8-specific protease activity (GO:0019784)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	6						CAAGAGCAAGGAAGACCTGGT	0.622																																						ENST00000538426.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	6						c.(367-369)Gaa>Taa		OTU domain, ubiquitin aldehyde binding 1							75.0	65.0	68.0					11																	63764357		2201	4297	6498	SO:0001587	stop_gained	55611				protein K48-linked deubiquitination	cytoplasm	NEDD8-specific protease activity|omega peptidase activity|ubiquitin binding|ubiquitin-specific protease activity	g.chr11:63764357G>T	AY177200	CCDS8055.1	11q13.1	2014-02-24	2014-02-24			ENSG00000167770		"""OTU domain containing"""	23077	protein-coding gene	gene with protein product		608337	"""OTU domain, ubiquitin aldehyde binding 1"""			12704427, 19383985	Standard	NM_017670		Approved	FLJ20113, FLJ40710	uc001nyf.1	Q96FW1		ENST00000538426.1:c.367G>T	11.37:g.63764357G>T	ENSP00000444357:p.Glu123*					OTUB1_ENST00000422031.2_Nonsense_Mutation_p.E160*|OTUB1_ENST00000428192.2_Nonsense_Mutation_p.E123*|OTUB1_ENST00000543988.1_Nonsense_Mutation_p.E93*|OTUB1_ENST00000535715.1_Nonsense_Mutation_p.E123*|OTUB1_ENST00000543004.1_Nonsense_Mutation_p.E132*|OTUB1_ENST00000541478.1_Intron	p.E123*	NM_017670.2	NP_060140.2	Q96FW1	OTUB1_HUMAN			5	411	+			123			OTU.		Q32Q78|Q96II3|Q9NXQ4|Q9P0B8	Nonsense_Mutation	SNP	ENST00000538426.1	37	c.367G>T	CCDS8055.1	.	.	.	.	.	.	.	.	.	.	G	36	5.800540	0.96960	.	.	ENSG00000167770	ENST00000535715;ENST00000428192;ENST00000422031;ENST00000538426;ENST00000543004;ENST00000543988	.	.	.	4.64	3.69	0.42338	.	0.317238	0.30060	N	0.010505	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	13.7463	0.62876	0.0:0.156:0.844:0.0	.	.	.	.	X	123;123;160;123;132;93	.	ENSP00000416973:E160X	E	+	1	0	OTUB1	63520933	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.737000	0.62066	1.258000	0.44101	0.655000	0.94253	GAA		0.622	OTUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396277.1	NM_017670		13	42	13	42	---	---	---	---
VWA8	23078	broad.mit.edu	37	13	42404698	42404698	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr13:42404698T>G	ENST00000379310.3	-	14	1735	c.1667A>C	c.(1666-1668)gAg>gCg	p.E556A	VWA8_ENST00000281496.6_Missense_Mutation_p.E556A	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	556						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										CAGTTGCAGCTCCTCCTTTAA	0.368																																						ENST00000379310.3																			0											c.(1666-1668)gAg>gCg		von Willebrand factor A domain containing 8							119.0	115.0	117.0					13																	42404698		2203	4300	6503	SO:0001583	missense	23078							g.chr13:42404698T>G	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.1667A>C	13.37:g.42404698T>G	ENSP00000368612:p.Glu556Ala					VWA8_ENST00000281496.6_Missense_Mutation_p.E556A	p.E556A	NM_015058.1	NP_055873.1					14	1735	-								O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	c.1667A>C	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	T	17.00	3.276284	0.59649	.	.	ENSG00000102763	ENST00000251030;ENST00000379310;ENST00000281496	T;T	0.54479	0.57;0.57	6.06	4.85	0.62838	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.201458	0.44097	D	0.000483	T	0.53158	0.1779	L	0.56769	1.78	0.48830	D	0.99971	B	0.26445	0.149	B	0.34590	0.186	T	0.51252	-0.8729	10	0.46703	T	0.11	.	12.4444	0.55643	0.0:0.0658:0.0:0.9342	.	556	A3KMH1	K0564_HUMAN	A	460;556;556	ENSP00000368612:E556A;ENSP00000281496:E556A	ENSP00000251030:E460A	E	-	2	0	KIAA0564	41302698	1.000000	0.71417	0.999000	0.59377	0.962000	0.63368	4.050000	0.57404	1.070000	0.40811	0.528000	0.53228	GAG		0.368	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		10	47	10	47	---	---	---	---
GRIN2A	2903	broad.mit.edu	37	16	9858484	9858484	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr16:9858484C>A	ENST00000396573.2	-	14	3226	c.2917G>T	c.(2917-2919)Gat>Tat	p.D973Y	GRIN2A_ENST00000404927.2_Missense_Mutation_p.D973Y|GRIN2A_ENST00000396575.2_Missense_Mutation_p.D973Y|GRIN2A_ENST00000535259.1_Missense_Mutation_p.D816Y|GRIN2A_ENST00000330684.3_Missense_Mutation_p.D973Y|GRIN2A_ENST00000562109.1_Missense_Mutation_p.D973Y	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	973					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TTGAGGTTATCCTTCTGCCGG	0.463																																						ENST00000396573.2																			0				NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(2917-2919)Gat>Tat		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						151.0	130.0	137.0					16																	9858484		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9858484C>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.2917G>T	16.37:g.9858484C>A	ENSP00000379818:p.Asp973Tyr					GRIN2A_ENST00000396575.2_Missense_Mutation_p.D973Y|GRIN2A_ENST00000404927.2_Missense_Mutation_p.D973Y|GRIN2A_ENST00000562109.1_Missense_Mutation_p.D973Y|GRIN2A_ENST00000330684.3_Missense_Mutation_p.D973Y|GRIN2A_ENST00000535259.1_Missense_Mutation_p.D816Y	p.D973Y	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			14	3226	-			973					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.2917G>T	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.348202	0.61183	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.13538	2.59;2.58;2.59;2.59;2.59	5.33	5.33	0.75918	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.042610	0.85682	D	0.000000	T	0.37404	0.1002	M	0.68317	2.08	0.80722	D	1	D;D;D	0.89917	0.994;0.995;1.0	D;D;D	0.91635	0.956;0.961;0.999	T	0.03139	-1.1068	9	.	.	.	.	18.0263	0.89270	0.0:1.0:0.0:0.0	.	816;973;973	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	Y	973;973;816;973;973	ENSP00000379818:D973Y;ENSP00000385872:D973Y;ENSP00000441572:D816Y;ENSP00000332549:D973Y;ENSP00000379820:D973Y	.	D	-	1	0	GRIN2A	9765985	1.000000	0.71417	0.993000	0.49108	0.917000	0.54804	7.395000	0.79876	2.491000	0.84063	0.655000	0.94253	GAT		0.463	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			12	74	12	74	---	---	---	---
MPP2	4355	broad.mit.edu	37	17	41957294	41957294	+	Silent	SNP	G	G	A	rs368406948		TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr17:41957294G>A	ENST00000461854.1	-	12	1366	c.1281C>T	c.(1279-1281)tcC>tcT	p.S427S	MPP2_ENST00000377184.3_Silent_p.S420S|MPP2_ENST00000536246.1_Silent_p.S392S|MPP2_ENST00000523501.1_Silent_p.S392S|MPP2_ENST00000520305.1_Silent_p.S264S|MPP2_ENST00000473246.1_5'Flank|MPP2_ENST00000518766.1_Silent_p.S448S|MPP2_ENST00000269095.4_Silent_p.S403S			Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	427	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		TCTCCCCACGGGACACAAAGC	0.627											OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000269095.4																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1207-1209)tcC>tcT		membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)		G		1,4405	2.1+/-5.4	0,1,2202	176.0	118.0	137.0		1209	-1.6	1.0	17		137	0,8600		0,0,4300	no	coding-synonymous	MPP2	NM_005374.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		403/553	41957294	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4355				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity	g.chr17:41957294G>A		CCDS11471.1, CCDS62206.1, CCDS62207.1, CCDS62208.1, CCDS62209.1, CCDS62210.1	17q12-q21	2008-07-18			ENSG00000108852	ENSG00000108852			7220	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 2"", ""discs large, homolog 2"""	600723		DLG2		7590743	Standard	NM_001278370		Approved	DKFZp761D0712	uc002ieo.1	Q14168	OTTHUMG00000133840	ENST00000461854.1:c.1281C>T	17.37:g.41957294G>A			OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	905	MPP2_ENST00000523501.1_Silent_p.S392S|MPP2_ENST00000461854.1_Silent_p.S427S|MPP2_ENST00000377184.3_Silent_p.S420S|MPP2_ENST00000536246.1_Silent_p.S392S|MPP2_ENST00000518766.1_Silent_p.S448S|MPP2_ENST00000520305.1_Silent_p.S264S	p.S403S	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365	Q14168	MPP2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.12)	11	1513	-		Breast(137;0.00314)	427			Guanylate kinase-like.		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Silent	SNP	ENST00000461854.1	37	c.1209C>T																																																																																					0.627	MPP2-003	KNOWN	non_canonical_polymorphism|basic	protein_coding	protein_coding	OTTHUMT00000258388.2	NM_005374		3	114	3	114	---	---	---	---
RAB37	326624	broad.mit.edu	37	17	72741504	72741504	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr17:72741504A>G	ENST00000392613.5	+	9	682	c.626A>G	c.(625-627)tAt>tGt	p.Y209C	RAB37_ENST00000392610.1_3'UTR|RAB37_ENST00000392615.5_Missense_Mutation_p.Y177C|RAB37_ENST00000528438.1_Missense_Mutation_p.Y182C|RAB37_ENST00000340415.3_3'UTR|RAB37_ENST00000392614.4_Missense_Mutation_p.Y214C|RAB37_ENST00000402449.4_Missense_Mutation_p.Y202C|MIR3615_ENST00000585285.1_RNA|RAB37_ENST00000392612.3_Missense_Mutation_p.Y172C	NM_001006638.2	NP_001006639.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	209					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|secretory granule (GO:0030141)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						ATCCGAGACTATGTAGAGTCC	0.612																																						ENST00000392614.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						c.(640-642)tAt>tGt		RAB37, member RAS oncogene family							51.0	53.0	53.0					17																	72741504		2203	4300	6503	SO:0001583	missense	326624				protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding	g.chr17:72741504A>G	BC040547	CCDS11703.1, CCDS32722.1, CCDS54161.1, CCDS54162.1	17q25.2	2008-02-05			ENSG00000172794	ENSG00000172794		"""RAB, member RAS oncogene"""	30268	protein-coding gene	gene with protein product		609956				10722846	Standard	NM_175738		Approved		uc002jlk.3	Q96AX2	OTTHUMG00000134282	ENST00000392613.5:c.626A>G	17.37:g.72741504A>G	ENSP00000376389:p.Tyr209Cys					RAB37_ENST00000392613.5_Missense_Mutation_p.Y209C|RAB37_ENST00000528438.1_Missense_Mutation_p.Y182C|RAB37_ENST00000340415.3_3'UTR|RAB37_ENST00000392610.1_3'UTR|RAB37_ENST00000392612.3_Missense_Mutation_p.Y172C|RAB37_ENST00000392615.5_Missense_Mutation_p.Y177C|RAB37_ENST00000402449.4_Missense_Mutation_p.Y202C	p.Y214C	NM_001163989.1	NP_001157461.1	Q96AX2	RAB37_HUMAN			9	734	+			209					A8MXF5|A8MYT0|Q8IWA7	Missense_Mutation	SNP	ENST00000392613.5	37	c.641A>G	CCDS32722.1	.	.	.	.	.	.	.	.	.	.	A	17.35	3.368141	0.61513	.	.	ENSG00000172794	ENST00000402449;ENST00000469248;ENST00000528438;ENST00000392615;ENST00000392614;ENST00000392613;ENST00000392612	T;T;T;T;T;T	0.62941	0.02;-0.0;0.37;-0.01;0.02;0.37	5.25	2.93	0.34026	.	0.066384	0.64402	D	0.000007	T	0.63355	0.2504	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D	0.89917	0.997;1.0;0.998;0.999;0.984	P;D;P;D;P	0.70227	0.882;0.968;0.896;0.967;0.713	T	0.58956	-0.7544	10	0.41790	T	0.15	.	7.5457	0.27766	0.7112:0.141:0.0:0.1478	.	172;177;214;202;209	A8MXF5;A8MZI4;A8MYT0;Q96AX2-2;Q96AX2	.;.;.;.;RAB37_HUMAN	C	202;202;182;177;214;209;172	ENSP00000383934:Y202C;ENSP00000432086:Y182C;ENSP00000376391:Y177C;ENSP00000376390:Y214C;ENSP00000376389:Y209C;ENSP00000376388:Y172C	ENSP00000376388:Y172C	Y	+	2	0	RAB37	70253099	1.000000	0.71417	0.584000	0.28653	0.983000	0.72400	6.812000	0.75226	0.345000	0.23873	0.533000	0.62120	TAT		0.612	RAB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258872.2	NM_175738		4	109	4	109	---	---	---	---
VAPA	9218	broad.mit.edu	37	18	9936196	9936196	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr18:9936196G>C	ENST00000400000.2	+	3	577	c.322G>C	c.(322-324)Gat>Cat	p.D108H	VAPA_ENST00000340541.4_Missense_Mutation_p.D108H|VAPA_ENST00000584796.1_3'UTR	NM_003574.5|NM_194434.2	NP_003565.4|NP_919415.2	Q9P0L0	VAPA_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa	108	MSP. {ECO:0000255|PROSITE- ProRule:PRU00132}.				cell death (GO:0008219)|membrane fusion (GO:0061025)|neuron projection development (GO:0031175)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein localization to endoplasmic reticulum (GO:0070972)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	protein heterodimerization activity (GO:0046982)|signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(1)|lung(2)|prostate(1)	4						AAACACTTCAGATATGGAAGC	0.348																																						ENST00000400000.2																			0				breast(1)|lung(2)|prostate(1)	4						c.(322-324)Gat>Cat		VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa							86.0	84.0	84.0					18																	9936196		1882	4150	6032	SO:0001583	missense	9218				cell death|cellular membrane fusion|neuron projection development|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein localization in endoplasmic reticulum|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane|vesicle	protein heterodimerization activity|signal transducer activity|structural molecule activity	g.chr18:9936196G>C		CCDS11847.2, CCDS11848.2	18p11.2	2008-07-28	2002-08-29		ENSG00000101558	ENSG00000101558			12648	protein-coding gene	gene with protein product		605703	"""VAMP (vesicle-associated membrane protein)-associated protein A (33kD)"""			9920726, 9657962	Standard	NM_003574		Approved	hVAP-33, VAP-A	uc002koj.3	Q9P0L0	OTTHUMG00000131603	ENST00000400000.2:c.322G>C	18.37:g.9936196G>C	ENSP00000382880:p.Asp108His					VAPA_ENST00000340541.4_Missense_Mutation_p.D108H|VAPA_ENST00000584796.1_3'UTR	p.D108H	NM_003574.5|NM_194434.2	NP_003565.4|NP_919415.2	Q9P0L0	VAPA_HUMAN			3	577	+			108			MSP.		A6NDZ0|D3DUI3|O75453|Q5U0E7|Q9UBZ2	Missense_Mutation	SNP	ENST00000400000.2	37	c.322G>C	CCDS11848.2	.	.	.	.	.	.	.	.	.	.	G	27.9	4.869648	0.91587	.	.	ENSG00000101558	ENST00000340541;ENST00000400000	T;T	0.73681	-0.77;-0.77	5.51	5.51	0.81932	PapD-like (2);	0.000000	0.85682	D	0.000000	D	0.90007	0.6880	M	0.92507	3.315	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.91494	0.5214	9	.	.	.	-17.088	19.7866	0.96442	0.0:0.0:1.0:0.0	.	108;108	Q9P0L0;Q9P0L0-2	VAPA_HUMAN;.	H	108	ENSP00000345656:D108H;ENSP00000382880:D108H	.	D	+	1	0	VAPA	9926196	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.837000	0.99465	2.756000	0.94617	0.655000	0.94253	GAT		0.348	VAPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254490.1			4	107	4	107	---	---	---	---
PRX	57716	broad.mit.edu	37	19	40903197	40903197	+	Silent	SNP	G	G	A			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr19:40903197G>A	ENST00000324001.7	-	7	1332	c.1062C>T	c.(1060-1062)gcC>gcT	p.A354A	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	354					axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCATCTTCAGGGCCACCTCAG	0.642																																						ENST00000324001.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47						c.(1060-1062)gcC>gcT		periaxin							30.0	34.0	33.0					19																	40903197		2197	4290	6487	SO:0001819	synonymous_variant	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40903197G>A	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.1062C>T	19.37:g.40903197G>A						PRX_ENST00000291825.7_3'UTR	p.A354A	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	1332	-			354					Q9BXL9|Q9HCF2	Silent	SNP	ENST00000324001.7	37	c.1062C>T	CCDS33028.1																																																																																				0.642	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		3	70	3	70	---	---	---	---
ZIM2	23619	broad.mit.edu	37	19	57301240	57301240	+	Splice_Site	SNP	C	C	T	rs551616907		TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr19:57301240C>T	ENST00000391708.3	-	9	1019	c.477G>A	c.(475-477)caG>caA	p.Q159Q	ZIM2_ENST00000601070.1_Splice_Site_p.Q159Q|ZIM2_ENST00000599935.1_Splice_Site_p.Q159Q|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000221722.5_Splice_Site_p.Q159Q|ZIM2_ENST00000593711.1_Splice_Site_p.Q159Q|AC006115.3_ENST00000595954.1_RNA|AC006115.3_ENST00000594400.1_RNA	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	159					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		CCTGACTCACCTGGGACCCAG	0.433																																						ENST00000391708.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(475-477)caG>caA		zinc finger, imprinted 2							73.0	64.0	67.0					19																	57301240		2203	4300	6503	SO:0001630	splice_region_variant	23619							g.chr19:57301240C>T	AF166122	CCDS33123.1	19q13.4	2012-10-31				ENSG00000269699		"""Zinc fingers, C2H2-type"""	12875	protein-coding gene	gene with protein product							Standard	NM_015363		Approved	ZNF656		Q9NZV7		ENST00000391708.3:c.477+1G>A	19.37:g.57301240C>T						ZIM2_ENST00000601070.1_Splice_Site_p.Q159Q|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000221722.5_Splice_Site_p.Q159Q|ZIM2_ENST00000599935.1_Splice_Site_p.Q159Q|ZIM2_ENST00000593711.1_Splice_Site_p.Q159Q|AC006115.3_ENST00000595954.1_RNA|AC006115.3_ENST00000594400.1_RNA	p.Q159Q	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1				GBM - Glioblastoma multiforme(193;0.0314)	9	1019	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)						Q2M3K1	Splice_Site	SNP	ENST00000391708.3	37	c.477G>A	CCDS33123.1																																																																																				0.433	ZIM2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416094.2		Silent	4	20	4	20	---	---	---	---
PPP6R2	9701	broad.mit.edu	37	22	50862022	50862022	+	Silent	SNP	C	C	T			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr22:50862022C>T	ENST00000216061.5	+	11	1474	c.1104C>T	c.(1102-1104)ctC>ctT	p.L368L	PPP6R2_ENST00000395741.3_Silent_p.L369L|PPP6R2_ENST00000359139.3_Silent_p.L368L|PPP6R2_ENST00000395744.3_Silent_p.L368L			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	368						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						TCTGCCGGCTCAACACGATGG	0.627																																						ENST00000359139.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						c.(1102-1104)ctC>ctT		protein phosphatase 6, regulatory subunit 2							87.0	67.0	74.0					22																	50862022		2203	4300	6503	SO:0001819	synonymous_variant	9701					cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr22:50862022C>T	AB014585	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	22q13.33	2012-04-17	2010-06-28	2010-06-28	ENSG00000100239	ENSG00000100239		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	19253	protein-coding gene	gene with protein product		610877	"""KIAA0685"", ""SAPS domain family, member 2"""	KIAA0685, SAPS2		16769727	Standard	NM_014678		Approved	dJ579N16.1, SAP190	uc003blc.3	O75170	OTTHUMG00000150199	ENST00000216061.5:c.1104C>T	22.37:g.50862022C>T						PPP6R2_ENST00000395741.3_Silent_p.L369L|PPP6R2_ENST00000395744.3_Silent_p.L368L|PPP6R2_ENST00000216061.5_Silent_p.L368L	p.L368L	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN			10	1498	+			368					A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Silent	SNP	ENST00000216061.5	37	c.1104C>T																																																																																					0.627	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316809.1	NM_014678		4	45	4	45	---	---	---	---
MORF4L2	9643	broad.mit.edu	37	X	102931635	102931635	+	Silent	SNP	G	G	A			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chrX:102931635G>A	ENST00000441076.2	-	4	625	c.321C>T	c.(319-321)ccC>ccT	p.P107P	MORF4L2_ENST00000492116.1_5'UTR|MORF4L2_ENST00000451301.1_Silent_p.P107P|MORF4L2_ENST00000423833.2_Silent_p.P107P|MORF4L2_ENST00000360458.1_Silent_p.P107P|MORF4L2_ENST00000433176.2_Silent_p.P107P|MORF4L2_ENST00000422154.2_Silent_p.P107P	NM_001142419.1|NM_012286.2	NP_001135891.1|NP_036418.1	Q15014	MO4L2_HUMAN	mortality factor 4 like 2	107					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA repair (GO:0006281)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						TTTCAACAGTGGGGTCTGCCC	0.493																																						ENST00000423833.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						c.(319-321)ccC>ccT		mortality factor 4 like 2							81.0	92.0	88.0					X																	102931635		2201	4300	6501	SO:0001819	synonymous_variant	9643				chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent	nucleolus	protein binding	g.chrX:102931635G>A	AF100620	CCDS14512.1	Xq22	2010-11-24			ENSG00000123562	ENSG00000123562			16849	protein-coding gene	gene with protein product	"""MORF-related gene X"""	300409				9891081, 7584026	Standard	NM_012286		Approved	KIAA0026, MRGX	uc011msa.2	Q15014	OTTHUMG00000022104	ENST00000441076.2:c.321C>T	X.37:g.102931635G>A						MORF4L2_ENST00000451301.1_Silent_p.P107P|MORF4L2_ENST00000433176.2_Silent_p.P107P|MORF4L2_ENST00000360458.1_Silent_p.P107P|MORF4L2_ENST00000441076.2_Silent_p.P107P|MORF4L2_ENST00000422154.2_Silent_p.P107P|MORF4L2_ENST00000492116.1_5'UTR	p.P107P			Q15014	MO4L2_HUMAN			3	1546	-			107					B3KP92|D3DXA5|Q567V0|Q8J026	Silent	SNP	ENST00000441076.2	37	c.321C>T	CCDS14512.1																																																																																				0.493	MORF4L2-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057732.1	NM_012286		4	81	4	81	---	---	---	---
PPT1	5538	broad.mit.edu	37	1	40535451	40535451	+	IGR	DEL	T	T	-			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr1:40535451delT	ENST00000433473.3	-	0	2740				CAP1_ENST00000372797.3_Frame_Shift_Del_p.F300fs|CAP1_ENST00000372798.1_Frame_Shift_Del_p.F299fs|CAP1_ENST00000479759.1_3'UTR|CAP1_ENST00000372792.2_Frame_Shift_Del_p.F300fs|CAP1_ENST00000340450.3_Frame_Shift_Del_p.F299fs|CAP1_ENST00000372802.1_Frame_Shift_Del_p.F299fs|CAP1_ENST00000372805.3_Frame_Shift_Del_p.F300fs	NM_000310.3	NP_000301.1	P50897	PPT1_HUMAN	palmitoyl-protein thioesterase 1						adult locomotory behavior (GO:0008344)|associative learning (GO:0008306)|brain development (GO:0007420)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cofactor metabolic process (GO:0051186)|cofactor transport (GO:0051181)|grooming behavior (GO:0007625)|lipid catabolic process (GO:0016042)|lysosomal lumen acidification (GO:0007042)|membrane raft organization (GO:0031579)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|neuron development (GO:0048666)|neurotransmitter secretion (GO:0007269)|pinocytosis (GO:0006907)|positive regulation of pinocytosis (GO:0048549)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein catabolic process (GO:0030163)|protein depalmitoylation (GO:0002084)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|regulation of phospholipase A2 activity (GO:0032429)|regulation of synapse structure and activity (GO:0050803)|sphingolipid catabolic process (GO:0030149)|visual perception (GO:0007601)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)	palmitoyl-(protein) hydrolase activity (GO:0008474)|palmitoyl-CoA hydrolase activity (GO:0016290)			endometrium(5)|large_intestine(1)|lung(3)|ovary(1)|stomach(1)	11	Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCCCAAACCATTCTCTGCACC	0.527																																						ENST00000372797.3																			0				endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12						c.(898-900)ttcfs		CAP, adenylate cyclase-associated protein 1 (yeast)							108.0	104.0	105.0					1																	40535451		1948	4131	6079	SO:0001628	intergenic_variant	10487				activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction	plasma membrane	actin binding	g.chr1:40535451delT	U44772	CCDS447.1, CCDS44119.1	1p32	2014-09-17	2008-07-31		ENSG00000131238	ENSG00000131238	3.1.2.22		9325	protein-coding gene	gene with protein product	"""ceroid-lipofuscinosis, neuronal 1, infantile"""	600722		PPT		7637805, 8325646	Standard	NM_000310		Approved	CLN1, INCL	uc001cfb.2	P50897	OTTHUMG00000004495		1.37:g.40535451delT						CAP1_ENST00000372805.3_Frame_Shift_Del_p.F300fs|CAP1_ENST00000372798.1_Frame_Shift_Del_p.F299fs|CAP1_ENST00000479759.1_3'UTR|CAP1_ENST00000340450.3_Frame_Shift_Del_p.F299fs|CAP1_ENST00000372802.1_Frame_Shift_Del_p.F299fs|CAP1_ENST00000372792.2_Frame_Shift_Del_p.F300fs	p.F300fs	NM_001105530.1|NM_006367.3	NP_001099000|NP_006358	Q01518	CAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		9	1459	+	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	300					B4DY24|Q6FGQ4	Frame_Shift_Del	DEL	ENST00000433473.3	37	c.898delT	CCDS447.1																																																																																				0.527	PPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013126.2	NM_000310		19	101	19	101	---	---	---	---
