#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
SGIP1	84251	broad.mit.edu	37	1	67147853	67147853	+	Silent	SNP	G	G	A	rs139355833		TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr1:67147853G>A	ENST00000371037.4	+	15	1193	c.1116G>A	c.(1114-1116)tcG>tcA	p.S372S	SGIP1_ENST00000237247.6_Silent_p.S376S|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371035.3_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	372	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						ATGTACTATCGCCGCTCAATT	0.542													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17901	0.0		0.0	False		,,,				2504	0.0					ENST00000371037.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						c.(1114-1116)tcG>tcA		SH3-domain GRB2-like (endophilin) interacting protein 1		G		3,4403	6.2+/-15.9	0,3,2200	78.0	96.0	90.0		1116	-1.5	1.0	1	dbSNP_134	90	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	SGIP1	NM_032291.2		0,5,6498	AA,AG,GG		0.0233,0.0681,0.0384		372/829	67147853	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67147853G>A	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.1116G>A	1.37:g.67147853G>A						SGIP1_ENST00000237247.6_Silent_p.S376S|SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371039.1_Intron	p.S372S	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN			15	1193	+			372			Pro-rich.		A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Silent	SNP	ENST00000371037.4	37	c.1116G>A	CCDS30744.1																																																																																				0.542	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		4	147	4	147	---	---	---	---
NTNG1	22854	broad.mit.edu	37	1	108023234	108023234	+	Splice_Site	SNP	G	G	A			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr1:108023234G>A	ENST00000370068.1	+	8	2238	c.1392G>A	c.(1390-1392)ccG>ccA	p.P464P	NTNG1_ENST00000370071.2_Splice_Site_p.A405A|NTNG1_ENST00000370072.3_Splice_Site_p.A419A|NTNG1_ENST00000370074.4_Splice_Site_p.T363T|NTNG1_ENST00000370067.1_Splice_Site_p.A385A|NTNG1_ENST00000370070.2_Splice_Site_p.A385A|NTNG1_ENST00000370073.2_Splice_Site_p.P464P|NTNG1_ENST00000542803.1_Splice_Site_p.P464P|NTNG1_ENST00000370065.1_Splice_Site_p.A419A|NTNG1_ENST00000370061.3_Splice_Site_p.P430P|NTNG1_ENST00000370066.1_Splice_Site_p.A405A			Q9Y2I2	NTNG1_HUMAN	netrin G1	464	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		ATTCTGCAGCGAATGTCTGCG	0.572																																						ENST00000370067.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37						c.(1153-1155)gcG>gcA		netrin G1							18.0	21.0	20.0					1																	108023234		2197	4296	6493	SO:0001630	splice_region_variant	22854				axonogenesis	anchored to plasma membrane	protein binding	g.chr1:108023234G>A	AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"""Netrins"""	23319	protein-coding gene	gene with protein product	"""netrin G1f"", ""Netrin-G1"""	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.1391-1G>A	1.37:g.108023234G>A						NTNG1_ENST00000370065.1_Splice_Site_p.A419A|NTNG1_ENST00000542803.1_Splice_Site_p.P464P|NTNG1_ENST00000370071.2_Splice_Site_p.A405A|NTNG1_ENST00000370061.3_Splice_Site_p.P430P|NTNG1_ENST00000370073.2_Splice_Site_p.P464P|NTNG1_ENST00000370068.1_Splice_Site_p.P464P|NTNG1_ENST00000370072.3_Splice_Site_p.A419A|NTNG1_ENST00000370070.2_Splice_Site_p.A385A|NTNG1_ENST00000370066.1_Splice_Site_p.A405A|NTNG1_ENST00000370074.4_Splice_Site_p.T363T	p.A385A			Q9Y2I2	NTNG1_HUMAN		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)	7	1782	+		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)	393			Laminin EGF-like 2.		Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Splice_Site	SNP	ENST00000370068.1	37	c.1155G>A	CCDS44180.1																																																																																				0.572	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000030340.1	NM_014917	Silent	10	34	10	34	---	---	---	---
KIAA1804	84451	broad.mit.edu	37	1	233518097	233518097	+	Silent	SNP	C	C	G			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr1:233518097C>G	ENST00000366624.3	+	10	3012	c.2751C>G	c.(2749-2751)ctC>ctG	p.L917L	MLK4_ENST00000366622.1_Silent_p.L363L	NM_032435.2	NP_115811.2																					CACTGCCACTCTGCCCCTCAC	0.532																																						ENST00000366624.3																			0											c.(2749-2751)ctC>ctG									76.0	72.0	74.0					1																	233518097		2203	4300	6503	SO:0001819	synonymous_variant	84451							g.chr1:233518097C>G																												ENST00000366624.3:c.2751C>G	1.37:g.233518097C>G						MLK4_ENST00000366622.1_Silent_p.L363L	p.L917L	NM_032435.2	NP_115811.2					10	3012	+									Silent	SNP	ENST00000366624.3	37	c.2751C>G	CCDS1598.1																																																																																				0.532	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1			3	113	3	113	---	---	---	---
EFHD1	80303	broad.mit.edu	37	2	233546303	233546303	+	Silent	SNP	C	C	T			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr2:233546303C>T	ENST00000264059.3	+	4	1071	c.594C>T	c.(592-594)gcC>gcT	p.A198A	EFHD1_ENST00000409708.1_Silent_p.A86A|EFHD1_ENST00000410095.1_Silent_p.A86A|snoU13_ENST00000459149.1_RNA|EFHD1_ENST00000409613.1_Silent_p.A102A	NM_025202.3	NP_079478.1	Q9BUP0	EFHD1_HUMAN	EF-hand domain family, member D1	198					neuron projection development (GO:0031175)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|large_intestine(2)|lung(3)	7		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)		AGGTCCAAGCCTTGTCATCGG	0.572																																						ENST00000264059.3																			0				NS(1)|breast(1)|large_intestine(2)|lung(3)	7						c.(592-594)gcC>gcT		EF-hand domain family, member D1							163.0	149.0	154.0					2																	233546303		2203	4300	6503	SO:0001819	synonymous_variant	80303						calcium ion binding|protein binding	g.chr2:233546303C>T		CCDS2497.1, CCDS58755.1	2q37.1	2014-07-01	2005-01-25		ENSG00000115468	ENSG00000115468		"""EF-hand domain containing"""	29556	protein-coding gene	gene with protein product	"""swiprosin-2"""	611617	"""EF hand domain containing 1"""			21244694	Standard	NM_025202		Approved	FLJ13612	uc002vtc.3	Q9BUP0	OTTHUMG00000133263	ENST00000264059.3:c.594C>T	2.37:g.233546303C>T						EFHD1_ENST00000409708.1_Silent_p.A86A|EFHD1_ENST00000409613.1_Silent_p.A102A|EFHD1_ENST00000410095.1_Silent_p.A86A	p.A198A	NM_025202.3	NP_079478.1	Q9BUP0	EFHD1_HUMAN		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)	4	1071	+		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)	198					B2RD83|E9PFH3|Q9BTF8|Q9H8I2|Q9HBQ0	Silent	SNP	ENST00000264059.3	37	c.594C>T	CCDS2497.1																																																																																				0.572	EFHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257040.2	NM_025202		79	130	79	130	---	---	---	---
TRIM42	287015	broad.mit.edu	37	3	140406902	140406902	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr3:140406902A>G	ENST00000286349.3	+	3	1569	c.1378A>G	c.(1378-1380)Acc>Gcc	p.T460A		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	460	COS. {ECO:0000255|PROSITE- ProRule:PRU00586}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CATCCAGACCACCTACAGGCC	0.577																																						ENST00000286349.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1378-1380)Acc>Gcc		tripartite motif containing 42							74.0	58.0	64.0					3																	140406902		2203	4300	6503	SO:0001583	missense	287015					intracellular	zinc ion binding	g.chr3:140406902A>G	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.1378A>G	3.37:g.140406902A>G	ENSP00000286349:p.Thr460Ala						p.T460A	NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN			3	1569	+			460			COS.		A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	ENST00000286349.3	37	c.1378A>G	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	A	13.00	2.106172	0.37145	.	.	ENSG00000155890	ENST00000286349	T	0.37752	1.18	5.63	5.63	0.86233	COS domain (1);	0.580733	0.17344	N	0.177659	T	0.29850	0.0746	N	0.24115	0.695	0.32381	N	0.554565	P	0.49961	0.93	P	0.46110	0.504	T	0.24657	-1.0154	10	0.27082	T	0.32	-14.2668	12.5296	0.56106	1.0:0.0:0.0:0.0	.	460	Q8IWZ5	TRI42_HUMAN	A	460	ENSP00000286349:T460A	ENSP00000286349:T460A	T	+	1	0	TRIM42	141889592	1.000000	0.71417	0.995000	0.50966	0.282000	0.26991	5.763000	0.68818	2.281000	0.76405	0.533000	0.62120	ACC		0.577	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		6	52	6	52	---	---	---	---
DLG1	1739	broad.mit.edu	37	3	196867046	196867046	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr3:196867046G>C	ENST00000419354.1	-	9	1063	c.777C>G	c.(775-777)atC>atG	p.I259M	DLG1_ENST00000422288.1_Missense_Mutation_p.I208M|DLG1_ENST00000443183.1_Missense_Mutation_p.I143M|DLG1_ENST00000314062.3_Missense_Mutation_p.I208M|DLG1_ENST00000450955.1_Missense_Mutation_p.I226M|DLG1_ENST00000392382.2_Missense_Mutation_p.I226M|DLG1_ENST00000452595.1_Missense_Mutation_p.I143M|DLG1_ENST00000357674.4_Missense_Mutation_p.I226M|DLG1_ENST00000448528.2_Missense_Mutation_p.I259M|DLG1_ENST00000346964.2_Missense_Mutation_p.I259M			Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	259	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin filament organization (GO:0007015)|activation of protein kinase activity (GO:0032147)|amyloid precursor protein metabolic process (GO:0042982)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|cortical actin cytoskeleton organization (GO:0030866)|dephosphorylation (GO:0016311)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell proliferation (GO:0001935)|establishment or maintenance of cell polarity (GO:0007163)|hard palate development (GO:0060022)|immunological synapse formation (GO:0001771)|lens development in camera-type eye (GO:0002088)|membrane raft organization (GO:0031579)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell proliferation (GO:0042130)|nucleotide phosphorylation (GO:0046939)|peristalsis (GO:0030432)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|protein localization to plasma membrane (GO:0072659)|regulation of membrane potential (GO:0042391)|regulation of myelination (GO:0031641)|regulation of sodium ion transmembrane transport (GO:1902305)|reproductive structure development (GO:0048608)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|synaptic transmission (GO:0007268)|T cell activation (GO:0042110)|T cell cytokine production (GO:0002369)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	basal lamina (GO:0005605)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell projection membrane (GO:0031253)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|immunological synapse (GO:0001772)|intercalated disc (GO:0014704)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|membrane raft (GO:0045121)|microtubule (GO:0005874)|MPP7-DLG1-LIN7 complex (GO:0097025)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|guanylate kinase activity (GO:0004385)|ion channel binding (GO:0044325)|L27 domain binding (GO:0097016)|mitogen-activated protein kinase kinase binding (GO:0031434)|phosphatase binding (GO:0019902)|phosphoprotein phosphatase activity (GO:0004721)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		CTCCCCCTGTGATAATTTTGG	0.443																																						ENST00000346964.2																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26						c.(775-777)atC>atG		discs, large homolog 1 (Drosophila)							138.0	133.0	135.0					3																	196867046		2203	4300	6503	SO:0001583	missense	1739				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding	g.chr3:196867046G>C	U13897	CCDS3327.1, CCDS43194.1, CCDS56300.1, CCDS56301.1, CCDS75072.1	3q29	2008-12-15	2001-11-28		ENSG00000075711	ENSG00000075711			2900	protein-coding gene	gene with protein product	"""discs large homolog 1"", ""presynaptic protein SAP97"", ""synapse-associated protein 97"""	601014	"""discs, large (Drosophila) homolog 1"""			7937897, 8825652	Standard	NM_004087		Approved	SAP97, SAP-97, hdlg, DLGH1, dJ1061C18.1.1	uc003fxn.4	Q12959	OTTHUMG00000047972	ENST00000419354.1:c.777C>G	3.37:g.196867046G>C	ENSP00000407531:p.Ile259Met					DLG1_ENST00000450955.1_Missense_Mutation_p.I226M|DLG1_ENST00000419354.1_Missense_Mutation_p.I259M|DLG1_ENST00000392382.2_Missense_Mutation_p.I226M|DLG1_ENST00000422288.1_Missense_Mutation_p.I208M|DLG1_ENST00000448528.2_Missense_Mutation_p.I259M|DLG1_ENST00000357674.4_Missense_Mutation_p.I226M|DLG1_ENST00000443183.1_Missense_Mutation_p.I143M|DLG1_ENST00000452595.1_Missense_Mutation_p.I143M|DLG1_ENST00000314062.3_Missense_Mutation_p.I208M	p.I259M	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)	9	966	-	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	259			PDZ 1.		A5YKK7|B4DGU1|B4DGZ8|B7ZMM0|B9EIQ5|D3DXB8|D3DXB9|E7EWL7|E9PG21|Q12958	Missense_Mutation	SNP	ENST00000419354.1	37	c.777C>G	CCDS43194.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.201117	0.58234	.	.	ENSG00000075711	ENST00000346964;ENST00000359922;ENST00000357674;ENST00000381807;ENST00000314062;ENST00000419354;ENST00000452595;ENST00000422288;ENST00000448528;ENST00000443183;ENST00000392382;ENST00000450955;ENST00000447466;ENST00000453607	T;T;T;T;T;T;T;T;T;T;T;T	0.25250	1.81;1.81;1.81;1.81;1.81;1.81;1.81;1.81;1.81;1.81;1.81;1.81	5.47	3.29	0.37713	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.41994	0.1183	M	0.75615	2.305	0.49130	D	0.999759	P;D;D;D;D;D;D	0.89917	0.867;1.0;0.999;0.999;1.0;0.999;1.0	P;D;D;D;D;D;D	0.91635	0.732;0.996;0.999;0.999;0.999;0.988;0.999	T	0.32375	-0.9909	10	0.33141	T	0.24	.	2.8322	0.05503	0.4315:0.0:0.1388:0.4297	.	226;143;143;143;226;259;259	Q12959-4;E9PG21;E7EWL7;B4DGU1;Q12959-3;Q12959;Q12959-2	.;.;.;.;.;DLG1_HUMAN;.	M	259;259;226;259;208;259;143;208;259;143;226;226;68;112	ENSP00000345731:I259M;ENSP00000350303:I226M;ENSP00000321087:I208M;ENSP00000407531:I259M;ENSP00000398939:I143M;ENSP00000413238:I208M;ENSP00000391732:I259M;ENSP00000396658:I143M;ENSP00000376187:I226M;ENSP00000411278:I226M;ENSP00000398702:I68M;ENSP00000412579:I112M	ENSP00000321087:I208M	I	-	3	3	DLG1	198351443	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.757000	0.26433	0.568000	0.29311	0.591000	0.81541	ATC		0.443	DLG1-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000258170.2	NM_004087		3	148	3	148	---	---	---	---
TNPO1	3842	broad.mit.edu	37	5	72195834	72195834	+	Splice_Site	SNP	A	A	G			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr5:72195834A>G	ENST00000337273.5	+	21	2766	c.2340A>G	c.(2338-2340)gcA>gcG	p.A780A	TNPO1_ENST00000506351.2_Splice_Site_p.A772A|TNPO1_ENST00000454282.1_Splice_Site_p.A730A|TNPO1_ENST00000523768.1_Splice_Site_p.A730A	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	780					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		TTACCTTAGCAATAACAATTG	0.398																																						ENST00000337273.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						c.(2338-2340)gcA>gcG		transportin 1							252.0	202.0	219.0					5																	72195834		2203	4300	6503	SO:0001630	splice_region_variant	3842				interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr5:72195834A>G	U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312		"""Importins"""	6401	protein-coding gene	gene with protein product	"""importin 2"""	602901	"""karyopherin (importin) beta 2"""	KPNB2		8808633, 9144189	Standard	NM_153188		Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000337273.5:c.2339-1A>G	5.37:g.72195834A>G						TNPO1_ENST00000454282.1_Splice_Site_p.A730A|TNPO1_ENST00000506351.2_Splice_Site_p.A772A|TNPO1_ENST00000523768.1_Splice_Site_p.A730A	p.A780A	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)	21	2766	+		Lung NSC(167;0.0053)|Ovarian(174;0.0175)	780					B4DVC6|Q92957|Q92975	Splice_Site	SNP	ENST00000337273.5	37	c.2340A>G	CCDS43329.1																																																																																				0.398	TNPO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000218577.3	NM_002270	Silent	41	69	41	69	---	---	---	---
DCP2	167227	broad.mit.edu	37	5	112343668	112343668	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr5:112343668T>C	ENST00000389063.2	+	9	1174	c.976T>C	c.(976-978)Tat>Cat	p.Y326H	DCP2_ENST00000515408.1_Intron|DCP2_ENST00000543319.1_Missense_Mutation_p.Y115H	NM_152624.5	NP_689837	Q8IU60	DCP2_HUMAN	decapping mRNA 2	326					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)|RISC complex (GO:0016442)	exoribonuclease activity, producing 5'-phosphomonoesters (GO:0016896)|m7G(5')pppN diphosphatase activity (GO:0050072)|manganese ion binding (GO:0030145)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		CAGAAAACAGTATCAAGATTC	0.343																																						ENST00000389063.2																			0				endometrium(3)|large_intestine(6)|lung(1)	10						c.(976-978)Tat>Cat		decapping mRNA 2							94.0	92.0	93.0					5																	112343668		2202	4300	6502	SO:0001583	missense	167227				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|RNA binding	g.chr5:112343668T>C	AY135173	CCDS34210.1, CCDS56377.1	5q22	2013-05-02	2013-05-02		ENSG00000172795	ENSG00000172795	3.6.1.62	"""Nudix motif containing"""	24452	protein-coding gene	gene with protein product	"""nudix (nucleoside diphosphate linked moiety X)-type motif 20"", ""M(7)GpppN-mRNA hydrolase"""	609844	"""DCP2 decapping enzyme homolog (S. cerevisiae)"""			12218187, 12417715	Standard	NM_152624		Approved	NUDT20	uc003kqh.3	Q8IU60	OTTHUMG00000162853	ENST00000389063.2:c.976T>C	5.37:g.112343668T>C	ENSP00000373715:p.Tyr326His					DCP2_ENST00000543319.1_Missense_Mutation_p.Y115H|DCP2_ENST00000515408.1_Intron	p.Y326H	NM_152624.5	NP_689837	Q8IU60	DCP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)	9	1174	+		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)	326					C9J778|Q6P2D4|Q7Z5W5|Q8NBG5	Missense_Mutation	SNP	ENST00000389063.2	37	c.976T>C	CCDS34210.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.34|12.34	1.909053|1.909053	0.33721|0.33721	.|.	.|.	ENSG00000172795|ENSG00000172795	ENST00000513585|ENST00000389063;ENST00000543319	.|T	.|0.42900	.|0.96	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	.|0.347271	.|0.29565	.|N	.|0.011792	T|T	0.19765|0.19765	0.0475|0.0475	N|N	0.11560|0.11560	0.145|0.145	0.31164|0.31164	N|N	0.70399|0.70399	.|B	.|0.06786	.|0.001	.|B	.|0.04013	.|0.001	T|T	0.18840|0.18840	-1.0324|-1.0324	5|10	.|0.15066	.|T	.|0.55	.|.	5.3669|5.3669	0.16119|0.16119	0.197:0.0814:0.0:0.7216|0.197:0.0814:0.0:0.7216	.|.	.|326	.|Q8IU60	.|DCP2_HUMAN	A|H	307|326;115	.|ENSP00000373715:Y326H	.|ENSP00000373715:Y326H	V|Y	+|+	2|1	0|0	DCP2|DCP2	112371567|112371567	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.441000|1.441000	0.35035|0.35035	2.136000|2.136000	0.66102|0.66102	0.477000|0.477000	0.44152|0.44152	GTA|TAT		0.343	DCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370765.3	NM_152624		28	41	28	41	---	---	---	---
PCDHB13	56123	broad.mit.edu	37	5	140595972	140595972	+	Silent	SNP	A	A	G			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr5:140595972A>G	ENST00000341948.4	+	1	2464	c.2277A>G	c.(2275-2277)tcA>tcG	p.S759S		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	759					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGGAGGCTCAGGGACCAATG	0.552																																						ENST00000341948.4																			0				NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66						c.(2275-2277)tcA>tcG									120.0	120.0	120.0					5																	140595972		2203	4300	6503	SO:0001819	synonymous_variant	56123				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140595972A>G	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.2277A>G	5.37:g.140595972A>G							p.S759S	NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2464	+			759					A8K9V6	Silent	SNP	ENST00000341948.4	37	c.2277A>G	CCDS4255.1																																																																																				0.552	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		3	127	3	127	---	---	---	---
LGSN	51557	broad.mit.edu	37	6	63995626	63995626	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr6:63995626G>T	ENST00000370657.4	-	3	229	c.196C>A	c.(196-198)Cca>Aca	p.P66T	LGSN_ENST00000370658.5_Missense_Mutation_p.P66T			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	66					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AGTTGAGGTGGGGTCAAAATT	0.438																																						ENST00000370658.5																			0				NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(196-198)Cca>Aca		lengsin, lens protein with glutamine synthetase domain	L-Glutamic Acid(DB00142)						104.0	96.0	99.0					6																	63995626		2203	4300	6503	SO:0001583	missense	51557				glutamine biosynthetic process		glutamate-ammonia ligase activity	g.chr6:63995626G>T	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"""glutamate-ammonia ligase (glutamine synthetase) domain containing 1"""	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.196C>A	6.37:g.63995626G>T	ENSP00000359691:p.Pro66Thr					LGSN_ENST00000370657.4_Missense_Mutation_p.P66T	p.P66T	NM_001143940.1|NM_016571.2	NP_001137412.1|NP_057655.2	Q5TDP6	LGSN_HUMAN			3	229	-			66					A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Missense_Mutation	SNP	ENST00000370657.4	37	c.196C>A	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	G	2.176	-0.388613	0.04932	.	.	ENSG00000146166	ENST00000370658;ENST00000370657	T;T	0.23147	1.92;2.01	5.61	-0.0578	0.13800	.	0.859656	0.10751	N	0.638282	T	0.05364	0.0142	L	0.43152	1.355	0.09310	N	1	B;B	0.18610	0.029;0.0	B;B	0.17722	0.019;0.002	T	0.42799	-0.9430	10	0.18710	T	0.47	0.6153	2.8202	0.05469	0.0977:0.1485:0.3246:0.4292	.	66;66	Q5TDP6-2;Q5TDP6	.;LGSN_HUMAN	T	66	ENSP00000359692:P66T;ENSP00000359691:P66T	ENSP00000359691:P66T	P	-	1	0	LGSN	64053585	0.638000	0.27225	0.012000	0.15200	0.353000	0.29299	0.793000	0.26944	-0.243000	0.09653	-0.274000	0.10170	CCA		0.438	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571		3	65	3	65	---	---	---	---
ANKIB1	54467	broad.mit.edu	37	7	92020490	92020490	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr7:92020490A>G	ENST00000265742.3	+	16	2439	c.2063A>G	c.(2062-2064)gAa>gGa	p.E688G		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	688							zinc ion binding (GO:0008270)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACAGACCTAGAAATGGTCACT	0.428																																						ENST00000265742.3																			0				cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41						c.(2062-2064)gAa>gGa		ankyrin repeat and IBR domain containing 1							78.0	77.0	77.0					7																	92020490		1902	4116	6018	SO:0001583	missense	54467						protein binding|zinc ion binding	g.chr7:92020490A>G	AB037807	CCDS47639.1	7q21.3	2013-01-10			ENSG00000001629	ENSG00000001629		"""Ankyrin repeat domain containing"""	22215	protein-coding gene	gene with protein product							Standard	NM_019004		Approved	DKFZP434A0225, KIAA1386	uc003ulw.2	Q9P2G1	OTTHUMG00000155859	ENST00000265742.3:c.2063A>G	7.37:g.92020490A>G	ENSP00000265742:p.Glu688Gly						p.E688G	NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		16	2439	+	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		688					Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Missense_Mutation	SNP	ENST00000265742.3	37	c.2063A>G	CCDS47639.1	.	.	.	.	.	.	.	.	.	.	A	28.1	4.890410	0.91889	.	.	ENSG00000001629	ENST00000265742	T	0.21932	1.98	5.34	5.34	0.76211	.	0.049211	0.85682	D	0.000000	T	0.52741	0.1753	M	0.87758	2.905	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.61768	-0.6995	10	0.87932	D	0	.	15.6161	0.76769	1.0:0.0:0.0:0.0	.	688	Q9P2G1	AKIB1_HUMAN	G	688	ENSP00000265742:E688G	ENSP00000265742:E688G	E	+	2	0	ANKIB1	91858426	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.287000	0.95975	2.145000	0.66743	0.460000	0.39030	GAA		0.428	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342018.1			14	87	14	87	---	---	---	---
MMP16	4325	broad.mit.edu	37	8	89058941	89058941	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr8:89058941C>T	ENST00000286614.6	-	9	1726	c.1445G>A	c.(1444-1446)gGg>gAg	p.G482E		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	482					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	TTCAGGGATCCCTTTCCAGAC	0.373																																						ENST00000286614.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						c.(1444-1446)gGg>gAg		matrix metallopeptidase 16 (membrane-inserted)							174.0	162.0	166.0					8																	89058941		2203	4300	6503	SO:0001583	missense	4325				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr8:89058941C>T	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.1445G>A	8.37:g.89058941C>T	ENSP00000286614:p.Gly482Glu						p.G482E	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN			9	1726	-			482			Hemopexin-like 3.		B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	ENST00000286614.6	37	c.1445G>A	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	C	34	5.297149	0.95574	.	.	ENSG00000156103	ENST00000286614	T	0.04156	3.69	5.82	5.82	0.92795	Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.40767	0.1130	H	0.98426	4.23	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.63501	-0.6623	10	0.87932	D	0	.	20.0856	0.97800	0.0:1.0:0.0:0.0	.	482	P51512	MMP16_HUMAN	E	482	ENSP00000286614:G482E	ENSP00000286614:G482E	G	-	2	0	MMP16	89128057	1.000000	0.71417	0.956000	0.39512	0.997000	0.91878	7.772000	0.85439	2.734000	0.93682	0.655000	0.94253	GGG		0.373	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		7	75	7	75	---	---	---	---
PTEN	5728	broad.mit.edu	37	10	89692849	89692849	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr10:89692849G>A	ENST00000371953.3	+	5	1690	c.333G>A	c.(331-333)tgG>tgA	p.W111*		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	111	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(5)|p.Y27fs*1(2)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTGACCAATGGCTAAGTGAAG	0.393		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		50	Whole gene deletion(37)|Deletion - Frameshift(8)|Unknown(5)	p.0?(37)|p.R55fs*1(5)|p.?(5)|p.Y27fs*1(2)|p.F56fs*2(1)	prostate(16)|central_nervous_system(11)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(331-333)tgG>tgA		phosphatase and tensin homolog							127.0	118.0	121.0					10																	89692849		2203	4297	6500	SO:0001587	stop_gained	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692849G>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.333G>A	10.37:g.89692849G>A	ENSP00000361021:p.Trp111*	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.W111*	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	5	1690	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	111			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	c.333G>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	48	14.202966	0.99784	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.635	18.4584	0.90729	0.0:0.0:1.0:0.0	.	.	.	.	X	111	.	.	W	+	3	0	PTEN	89682829	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.425000	0.97467	2.318000	0.78349	0.655000	0.94253	TGG		0.393	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		19	86	19	86	---	---	---	---
OR5L2	26338	broad.mit.edu	37	11	55594795	55594795	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr11:55594795T>C	ENST00000378397.1	+	1	101	c.101T>C	c.(100-102)aTc>aCc	p.I34T		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	34						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TTCCTTCTCATCTATGGAGTC	0.517										HNSCC(27;0.073)																												ENST00000378397.1																			0				breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59						c.(100-102)aTc>aCc		olfactory receptor, family 5, subfamily L, member 2							272.0	245.0	254.0					11																	55594795		2200	4296	6496	SO:0001583	missense	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55594795T>C	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.101T>C	11.37:g.55594795T>C	ENSP00000367650:p.Ile34Thr	HNSCC(27;0.073)					p.I34T	NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN			1	101	+		all_epithelial(135;0.208)	34					Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	37	c.101T>C	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	16.54	3.152332	0.57259	.	.	ENSG00000205030	ENST00000378397	T	0.00441	7.41	5.13	3.99	0.46301	.	0.130327	0.34932	N	0.003577	T	0.00608	0.0020	L	0.53729	1.69	0.28857	N	0.895701	D	0.62365	0.991	P	0.56700	0.804	T	0.46317	-0.9200	10	0.87932	D	0	-24.097	8.5546	0.33474	0.0:0.1618:0.0:0.8382	.	34	Q8NGL0	OR5L2_HUMAN	T	34	ENSP00000367650:I34T	ENSP00000367650:I34T	I	+	2	0	OR5L2	55351371	0.001000	0.12720	0.975000	0.42487	0.884000	0.51177	0.488000	0.22371	0.914000	0.36822	0.509000	0.49947	ATC		0.517	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		37	291	37	291	---	---	---	---
RELA	5970	broad.mit.edu	37	11	65423213	65423213	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr11:65423213G>A	ENST00000406246.3	-	10	1240	c.979C>T	c.(979-981)Cca>Tca	p.P327S	RELA_ENST00000308639.9_Missense_Mutation_p.P324S|RELA_ENST00000525693.1_Missense_Mutation_p.P327S	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	327					acetaldehyde metabolic process (GO:0006117)|aging (GO:0007568)|cellular defense response (GO:0006968)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|Fc-epsilon receptor signaling pathway (GO:0038095)|hair follicle development (GO:0001942)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|liver development (GO:0001889)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of Schwann cell differentiation (GO:0014040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to cobalamin (GO:0033590)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to interleukin-1 (GO:0070555)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to muramyl dipeptide (GO:0032495)|response to organic substance (GO:0010033)|response to progesterone (GO:0032570)|response to UV-B (GO:0010224)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phosphate ion binding (GO:0042301)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|repressing transcription factor binding (GO:0070491)|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 negative regulation of transcription (GO:0001078)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						CGTCGAGGTGGAGGCCGGGGG	0.622																																						ENST00000525693.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						c.(979-981)Cca>Tca		v-rel avian reticuloendotheliosis viral oncogene homolog A							100.0	97.0	98.0					11																	65423213		2201	4297	6498	SO:0001583	missense	5970				anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding	g.chr11:65423213G>A	Z22951	CCDS31609.1, CCDS44651.1, CCDS73322.1	11q13	2013-07-09	2013-07-09		ENSG00000173039	ENSG00000173039			9955	protein-coding gene	gene with protein product		164014	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells 3"""	NFKB3		2001591	Standard	NM_021975		Approved	p65	uc001ofg.3	Q04206	OTTHUMG00000166566	ENST00000406246.3:c.979C>T	11.37:g.65423213G>A	ENSP00000384273:p.Pro327Ser					RELA_ENST00000406246.3_Missense_Mutation_p.P327S|RELA_ENST00000308639.9_Missense_Mutation_p.P324S	p.P327S			Q04206	TF65_HUMAN			10	1041	-			327					Q6GTV1|Q6SLK1	Missense_Mutation	SNP	ENST00000406246.3	37	c.979C>T	CCDS31609.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.206647	0.39003	.	.	ENSG00000173039	ENST00000406246;ENST00000525693;ENST00000308639;ENST00000545816;ENST00000532999	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	4.61	1.52	0.23074	.	0.780131	0.11630	N	0.544854	T	0.26048	0.0635	N	0.21448	0.665	0.31636	N	0.648429	B;B;B;B;B;B	0.20988	0.05;0.05;0.007;0.004;0.002;0.002	B;B;B;B;B;B	0.17433	0.018;0.01;0.005;0.002;0.003;0.001	T	0.34304	-0.9834	10	0.08179	T	0.78	-0.3644	4.8112	0.13344	0.2055:0.1764:0.6181:0.0	.	317;314;324;327;338;327	Q04206-3;Q04206-2;Q04206-4;Q04206;B4E082;Q2TAM5	.;.;.;TF65_HUMAN;.;.	S	327;327;324;338;338	ENSP00000384273:P327S;ENSP00000432537:P327S;ENSP00000311508:P324S;ENSP00000433526:P338S	ENSP00000311508:P324S	P	-	1	0	RELA	65179789	0.998000	0.40836	0.975000	0.42487	0.963000	0.63663	1.359000	0.34113	0.351000	0.24027	0.555000	0.69702	CCA		0.622	RELA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390457.2	NM_021975		27	34	27	34	---	---	---	---
SCN3B	55800	broad.mit.edu	37	11	123516294	123516294	+	Splice_Site	SNP	C	C	T			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr11:123516294C>T	ENST00000392770.2	-	2	1022		c.e2+1		SCN3B_ENST00000299333.3_Splice_Site|SCN3B_ENST00000530277.1_Splice_Site	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit						atrial cardiac muscle cell action potential (GO:0086014)|axon guidance (GO:0007411)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|positive regulation of heart rate (GO:0010460)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|ventricular cardiac muscle cell action potential (GO:0086005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)	Valproic Acid(DB00313)|Zonisamide(DB00909)	GTCTAACATACAAGGAAATCT	0.572																																						ENST00000392770.2																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26						c.e2+1		sodium channel, voltage-gated, type III, beta subunit							132.0	141.0	138.0					11																	123516294		2202	4299	6501	SO:0001630	splice_region_variant	55800				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity	g.chr11:123516294C>T	AJ243396	CCDS8442.1	11q24.1	2014-09-17	2012-02-28		ENSG00000166257	ENSG00000166257		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"""	20665	protein-coding gene	gene with protein product		608214	"""sodium channel, voltage-gated, type III, beta"""			10688874	Standard	XR_428980		Approved	HSA243396	uc001pzb.1	Q9NY72	OTTHUMG00000166006	ENST00000392770.2:c.219+1G>A	11.37:g.123516294C>T						SCN3B_ENST00000530277.1_Splice_Site|SCN3B_ENST00000299333.3_Splice_Site		NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)	2	1022	-		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)						A5H1I5|Q17RL3|Q9ULR2	Splice_Site	SNP	ENST00000392770.2	37		CCDS8442.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.681436	0.88542	.	.	ENSG00000166257	ENST00000392770;ENST00000299333;ENST00000530277;ENST00000527836;ENST00000528267	.	.	.	5.96	5.96	0.96718	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4182	0.99029	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SCN3B	123021504	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.216000	0.58540	2.820000	0.97059	0.609000	0.83330	.		0.572	SCN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387412.1	NM_018400	Intron	48	89	48	89	---	---	---	---
CAPNS1	826	broad.mit.edu	37	19	36636739	36636739	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr19:36636739A>C	ENST00000246533.3	+	7	1086	c.488A>C	c.(487-489)gAa>gCa	p.E163A	CAPNS1_ENST00000587718.1_Missense_Mutation_p.E163A|CAPNS1_ENST00000588780.1_Missense_Mutation_p.E173A|CAPNS1_ENST00000588815.1_Missense_Mutation_p.E163A|CAPNS1_ENST00000589146.1_Intron|CAPNS1_ENST00000590874.1_Missense_Mutation_p.E133A|AD001527.7_ENST00000604228.1_RNA	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	163	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGCTTTGAGGAATTCAAGTAC	0.532																																					Esophageal Squamous(129;1541 1691 5780 18353 34150)	ENST00000246533.3																			0				cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(487-489)gAa>gCa		calpain, small subunit 1							108.0	92.0	97.0					19																	36636739		2203	4300	6503	SO:0001583	missense	826				positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr19:36636739A>C	X04106	CCDS12489.1	19q13.1	2013-01-10		2001-08-10	ENSG00000126247	ENSG00000126247	3.4.22.52	"""EF-hand domain containing"""	1481	protein-coding gene	gene with protein product		114170		CAPN4		3024120, 3016651	Standard	NM_001003962		Approved	CANP, CANPS, 30K, CDPS	uc002odj.3	P04632		ENST00000246533.3:c.488A>C	19.37:g.36636739A>C	ENSP00000246533:p.Glu163Ala					CAPNS1_ENST00000589146.1_Intron|CAPNS1_ENST00000588780.1_Missense_Mutation_p.E173A|AD001527.7_ENST00000604228.1_RNA|CAPNS1_ENST00000590874.1_Missense_Mutation_p.E133A|CAPNS1_ENST00000588815.1_Missense_Mutation_p.E163A|CAPNS1_ENST00000587718.1_Missense_Mutation_p.E163A	p.E163A	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		7	1086	+	Esophageal squamous(110;0.162)		163			EF-hand 2.		A8K0P1|Q8WTX3|Q96EW0	Missense_Mutation	SNP	ENST00000246533.3	37	c.488A>C	CCDS12489.1	.	.	.	.	.	.	.	.	.	.	a	25.0	4.594134	0.86953	.	.	ENSG00000126247	ENST00000246533	D	0.90504	-2.68	5.19	5.19	0.71726	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.97155	0.9070	H	0.98407	4.225	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98206	1.0470	10	0.72032	D	0.01	.	13.2811	0.60214	1.0:0.0:0.0:0.0	.	163	P04632	CPNS1_HUMAN	A	163	ENSP00000246533:E163A	ENSP00000246533:E163A	E	+	2	0	CAPNS1	41328579	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.474000	0.90413	2.086000	0.62901	0.459000	0.35465	GAA		0.532	CAPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457411.2			38	69	38	69	---	---	---	---
NUMBL	9253	broad.mit.edu	37	19	41174032	41174032	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr19:41174032A>G	ENST00000252891.4	-	10	1338	c.1171T>C	c.(1171-1173)Tgg>Cgg	p.W391R	NUMBL_ENST00000540131.1_Missense_Mutation_p.W350R|NUMBL_ENST00000598779.1_Missense_Mutation_p.W350R	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	391					adherens junction organization (GO:0034332)|axonogenesis (GO:0007409)|cytokine-mediated signaling pathway (GO:0019221)|lateral ventricle development (GO:0021670)|nervous system development (GO:0007399)|neuroblast division in subventricular zone (GO:0021849)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of neurogenesis (GO:0050769)|protein metabolic process (GO:0019538)	cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			GGCTCACCCCAGGCAGAAGTC	0.652																																						ENST00000252891.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16						c.(1171-1173)Tgg>Cgg		numb homolog (Drosophila)-like							10.0	12.0	11.0					19																	41174032		2192	4276	6468	SO:0001583	missense	9253				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding	g.chr19:41174032A>G	AF015401	CCDS12561.1	19q13.13-q13.2	2008-07-17	2001-11-28			ENSG00000105245			8061	protein-coding gene	gene with protein product		604018	"""numb (Drosophila) homolog-like"""			9225980, 9303539	Standard	XM_006723471		Approved	NUMB-R, CTG3a, CAG3A, TNRC23, NUMBR, NUMBLIKE	uc002oon.3	Q9Y6R0		ENST00000252891.4:c.1171T>C	19.37:g.41174032A>G	ENSP00000252891:p.Trp391Arg					NUMBL_ENST00000540131.1_Missense_Mutation_p.W350R|NUMBL_ENST00000598779.1_Missense_Mutation_p.W350R	p.W391R	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)		10	1338	-			391					Q7Z4J9	Missense_Mutation	SNP	ENST00000252891.4	37	c.1171T>C	CCDS12561.1	.	.	.	.	.	.	.	.	.	.	A	7.698	0.692410	0.15039	.	.	ENSG00000105245	ENST00000252891;ENST00000540131	T;T	0.59772	0.24;0.28	4.61	4.61	0.57282	.	0.204155	0.45606	D	0.000356	T	0.56077	0.1961	L	0.46157	1.445	0.47698	D	0.999499	D;D	0.54964	0.969;0.969	P;P	0.49276	0.605;0.605	T	0.52909	-0.8512	10	0.24483	T	0.36	-11.5921	13.1072	0.59253	1.0:0.0:0.0:0.0	.	391;391	A8K033;Q9Y6R0	.;NUMBL_HUMAN	R	391;350	ENSP00000252891:W391R;ENSP00000442759:W350R	ENSP00000252891:W391R	W	-	1	0	NUMBL	45865872	1.000000	0.71417	1.000000	0.80357	0.203000	0.24098	5.109000	0.64615	1.936000	0.56123	0.459000	0.35465	TGG		0.652	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462749.2	NM_004756		2	12	2	12	---	---	---	---
FPR2	2358	broad.mit.edu	37	19	52272719	52272719	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr19:52272719G>A	ENST00000598776.1	+	2	1580	c.808G>A	c.(808-810)Gag>Aag	p.E270K	FPR2_ENST00000598953.1_Missense_Mutation_p.E270K|FPR2_ENST00000340023.6_Missense_Mutation_p.E270K	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	270					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|N-formyl peptide receptor activity (GO:0004982)			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						CTGGCTCAAAGAGATGTTGTT	0.512																																						ENST00000598776.1																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						c.(808-810)Gag>Aag		formyl peptide receptor 2							127.0	109.0	115.0					19																	52272719		2203	4300	6503	SO:0001583	missense	2358				cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52272719G>A	M88107	CCDS12840.1	19q13.3-q13.4	2012-08-10	2008-04-17	2008-04-17		ENSG00000171049		"""GPCR / Class A : Formyl peptide receptors"", ""GPCR / Class A : Leukotriene receptors"""	3827	protein-coding gene	gene with protein product		136538	"""formyl peptide receptor-like 1"""	FPRL1		9054386	Standard	NM_001462		Approved	LXA4R, HM63, FPRH2, FMLPX, FPR2A, FMLP-R-II, ALXR	uc002pxr.3	P25090		ENST00000598776.1:c.808G>A	19.37:g.52272719G>A	ENSP00000468897:p.Glu270Lys					FPR2_ENST00000340023.6_Missense_Mutation_p.E270K|FPR2_ENST00000598953.1_Missense_Mutation_p.E270K	p.E270K	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN			2	1580	+			270					A8K3E2	Missense_Mutation	SNP	ENST00000598776.1	37	c.808G>A	CCDS12840.1	.	.	.	.	.	.	.	.	.	.	.	12.07	1.828133	0.32329	.	.	ENSG00000171049	ENST00000340023	T	0.71817	-0.6	3.43	1.24	0.21308	GPCR, rhodopsin-like superfamily (1);	0.385641	0.25711	U	0.028820	T	0.67832	0.2935	L	0.61036	1.89	0.09310	N	1	B	0.33528	0.416	B	0.42163	0.378	T	0.60419	-0.7267	10	0.49607	T	0.09	.	6.6824	0.23127	0.1086:0.1827:0.7087:0.0	.	270	P25090	FPR2_HUMAN	K	270	ENSP00000340191:E270K	ENSP00000340191:E270K	E	+	1	0	FPR2	56964531	0.136000	0.22515	0.002000	0.10522	0.002000	0.02628	2.275000	0.43399	0.446000	0.26666	-0.350000	0.07774	GAG		0.512	FPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466912.2	NM_001005738		20	32	20	32	---	---	---	---
SLC37A1	54020	broad.mit.edu	37	21	43967227	43967227	+	Silent	SNP	A	A	C			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr21:43967227A>C	ENST00000352133.2	+	9	1727	c.745A>C	c.(745-747)Agg>Cgg	p.R249R	SLC37A1_ENST00000398341.3_Silent_p.R249R			P57057	GLPT_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 1	249					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	transporter activity (GO:0005215)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						GAACGACGTCAGGTGCTCCTC	0.552																																						ENST00000352133.2																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						c.(745-747)Agg>Cgg		solute carrier family 37 (glucose-6-phosphate transporter), member 1							332.0	243.0	273.0					21																	43967227		2203	4300	6503	SO:0001819	synonymous_variant	54020				carbohydrate transport|transmembrane transport	integral to membrane		g.chr21:43967227A>C	AJ269529	CCDS13689.1	21q22.3	2013-07-17	2013-07-17		ENSG00000160190	ENSG00000160190		"""Solute carriers"""	11024	protein-coding gene	gene with protein product		608094	"""solute carrier family 37 (glycerol-3-phosphate transporter), member 1"""			11112347	Standard	NM_018964		Approved		uc002zbi.3	P57057	OTTHUMG00000086803	ENST00000352133.2:c.745A>C	21.37:g.43967227A>C						SLC37A1_ENST00000398341.3_Silent_p.R249R	p.R249R			P57057	GLPT_HUMAN			9	1727	+			249					D3DSJ7|Q9HAQ1	Silent	SNP	ENST00000352133.2	37	c.745A>C	CCDS13689.1																																																																																				0.552	SLC37A1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195377.1			27	118	27	118	---	---	---	---
PHKA1	5255	broad.mit.edu	37	X	71840634	71840634	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chrX:71840634A>T	ENST00000373542.4	-	19	2237	c.2078T>A	c.(2077-2079)gTg>gAg	p.V693E	PHKA1_ENST00000373545.3_Intron|PHKA1_ENST00000373539.3_Missense_Mutation_p.V693E|PHKA1_ENST00000339490.3_Missense_Mutation_p.V693E|PHKA1_ENST00000541944.1_Intron	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	693					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					GGTTGTTTGCACAGCAGCTTG	0.517																																						ENST00000339490.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(2077-2079)gTg>gAg		phosphorylase kinase, alpha 1 (muscle)							151.0	102.0	119.0					X																	71840634		2203	4300	6503	SO:0001583	missense	5255				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:71840634A>T		CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.2078T>A	X.37:g.71840634A>T	ENSP00000362643:p.Val693Glu					PHKA1_ENST00000373542.4_Missense_Mutation_p.V693E|PHKA1_ENST00000541944.1_Intron|PHKA1_ENST00000373545.3_Intron|PHKA1_ENST00000373539.3_Missense_Mutation_p.V693E	p.V693E	NM_001122670.1	NP_001116142.1	P46020	KPB1_HUMAN			19	2378	-	Renal(35;0.156)		693					B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP	ENST00000373542.4	37	c.2078T>A	CCDS14421.1	.	.	.	.	.	.	.	.	.	.	A	13.02	2.113578	0.37339	.	.	ENSG00000067177	ENST00000373542;ENST00000339490;ENST00000373539	D;D;D	0.90676	-2.71;-2.71;-2.7	5.58	4.38	0.52667	Glycoside hydrolase 15-related (1);	0.180712	0.49916	D	0.000137	D	0.83266	0.5217	L	0.33710	1.025	0.80722	D	1	B;B	0.13145	0.007;0.004	B;B	0.15052	0.011;0.012	T	0.73493	-0.3965	10	0.20046	T	0.44	.	8.9849	0.35988	0.832:0.0:0.0:0.168	.	693;693	P46020-2;P46020	.;KPB1_HUMAN	E	693	ENSP00000362643:V693E;ENSP00000342469:V693E;ENSP00000362640:V693E	ENSP00000342469:V693E	V	-	2	0	PHKA1	71757359	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.460000	0.60108	0.690000	0.31570	0.486000	0.48141	GTG		0.517	PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058896.1			4	45	4	45	---	---	---	---
GPR50	9248	broad.mit.edu	37	X	150348881	150348881	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chrX:150348881T>C	ENST00000218316.3	+	2	895	c.826T>C	c.(826-828)Tat>Cat	p.Y276H	GPR50-AS1_ENST00000454196.1_RNA|AF003625.3_ENST00000602313.1_lincRNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	276					cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CAACTGGCTTTATCTTGCAGC	0.512																																						ENST00000218316.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38						c.(826-828)Tat>Cat		G protein-coupled receptor 50							121.0	116.0	118.0					X																	150348881		2074	4203	6277	SO:0001583	missense	9248				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	g.chrX:150348881T>C	U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"""GPCR / Class A : Orphans"""	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.826T>C	X.37:g.150348881T>C	ENSP00000218316:p.Tyr276His						p.Y276H	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN			2	895	+	Acute lymphoblastic leukemia(192;6.56e-05)		276					Q0VGG3|Q3ZAR0	Missense_Mutation	SNP	ENST00000218316.3	37	c.826T>C	CCDS44012.1	.	.	.	.	.	.	.	.	.	.	T	15.63	2.890604	0.52014	.	.	ENSG00000102195	ENST00000218316	T	0.57273	0.41	4.24	4.24	0.50183	GPCR, rhodopsin-like superfamily (1);	0.054058	0.85682	D	0.000000	T	0.44623	0.1302	L	0.38953	1.18	0.46478	D	0.999069	B	0.25809	0.135	B	0.31290	0.127	T	0.47623	-0.9103	10	0.87932	D	0	-11.3917	10.7432	0.46166	0.0:0.0:0.0:1.0	.	276	Q13585	MTR1L_HUMAN	H	276	ENSP00000218316:Y276H	ENSP00000218316:Y276H	Y	+	1	0	GPR50	150099539	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.058000	0.64300	1.498000	0.48600	0.381000	0.24937	TAT		0.512	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224		4	83	4	83	---	---	---	---
