#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
STPG2	285555	broad.mit.edu	37	4	99030364	99030364	+	Silent	SNP	T	T	C			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr4:99030364T>C	ENST00000295268.3	-	4	569	c.480A>G	c.(478-480)ccA>ccG	p.P160P		NM_174952.2	NP_777612.1	Q8N412	STPG2_HUMAN	sperm-tail PG-rich repeat containing 2	160								p.P160P(1)									CATACTGTCCTGGACCAGGAC	0.333																																						ENST00000295268.3																			1	Substitution - coding silent(1)	p.P160P(1)	prostate(1)								c.(478-480)ccA>ccG		sperm-tail PG-rich repeat containing 2							64.0	64.0	64.0					4																	99030364		2203	4297	6500	SO:0001819	synonymous_variant	285555							g.chr4:99030364T>C	BC036870	CCDS3645.1	4q22.3-q23	2013-10-11	2012-07-30	2012-07-30	ENSG00000163116	ENSG00000163116			28712	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 37"""	C4orf37		23031811	Standard	NM_174952		Approved	MGC46496	uc003htt.2	Q8N412	OTTHUMG00000131009	ENST00000295268.3:c.480A>G	4.37:g.99030364T>C							p.P160P	NM_174952.2	NP_777612.1					4	569	-									Silent	SNP	ENST00000295268.3	37	c.480A>G	CCDS3645.1																																																																																				0.333	STPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253642.1	NM_174952		3	76	0	0	0	0.009096	0	3	76				
APBB3	10307	broad.mit.edu	37	5	139939911	139939911	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr5:139939911T>A	ENST00000357560.4	-	12	1654	c.1211A>T	c.(1210-1212)cAg>cTg	p.Q404L	APBB3_ENST00000356738.2_Missense_Mutation_p.Q409L|APBB3_ENST00000354402.5_Missense_Mutation_p.Q411L|APBB3_ENST00000507279.1_5'Flank|SRA1_ENST00000520427.1_5'Flank|APBB3_ENST00000358580.5_3'UTR|APBB3_ENST00000412920.3_Missense_Mutation_p.Q402L|APBB3_ENST00000508496.2_Missense_Mutation_p.Q181L|SRA1_ENST00000336283.6_5'Flank	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	404	PID 2. {ECO:0000255|PROSITE- ProRule:PRU00148}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.Q411L(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGGCAGCCTGCACAGCTTC	0.617																																						ENST00000357560.4																			1	Substitution - Missense(1)	p.Q411L(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11						c.(1210-1212)cAg>cTg		amyloid beta (A4) precursor protein-binding, family B, member 3							51.0	50.0	50.0					5																	139939911		2203	4300	6503	SO:0001583	missense	10307					actin cytoskeleton|cytoplasm		g.chr5:139939911T>A	AB018247	CCDS4227.1, CCDS4228.1, CCDS4229.1, CCDS47279.1	5q31	2008-02-05			ENSG00000113108	ENSG00000113108			20708	protein-coding gene	gene with protein product		602711				9407065	Standard	NM_133172		Approved	FE65L2	uc003lgd.1	O95704	OTTHUMG00000129504	ENST00000357560.4:c.1211A>T	5.37:g.139939911T>A	ENSP00000350171:p.Gln404Leu					APBB3_ENST00000358580.5_3'UTR|APBB3_ENST00000508496.2_Missense_Mutation_p.Q181L|APBB3_ENST00000354402.5_Missense_Mutation_p.Q411L|APBB3_ENST00000412920.3_Missense_Mutation_p.Q402L|APBB3_ENST00000356738.2_Missense_Mutation_p.Q409L	p.Q404L	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		12	1654	-			404			PID 2.		B3KQN9|Q08AG4|Q96Q18|Q9BYD4|Q9NYX6|Q9NYX7|Q9NYX8	Missense_Mutation	SNP	ENST00000357560.4	37	c.1211A>T	CCDS4229.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.078137	0.76528	.	.	ENSG00000113108	ENST00000356738;ENST00000354402;ENST00000357560;ENST00000508496;ENST00000412920	T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.41511	0.1162	L	0.56199	1.76	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.76071	0.986;0.987	T	0.11991	-1.0565	9	.	.	.	-11.3932	15.2079	0.73195	0.0:0.0:0.0:1.0	.	402;409	O95704-2;O95704-3	.;.	L	409;411;404;181;402	ENSP00000349177:Q409L;ENSP00000346378:Q411L;ENSP00000350171:Q404L;ENSP00000444013:Q181L;ENSP00000402591:Q402L	.	Q	-	2	0	APBB3	139920095	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.896000	0.87350	2.078000	0.62432	0.533000	0.62120	CAG		0.617	APBB3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251677.2	NM_006051		3	64	0	0	0	0.115264	0	3	64				
IGKV1D-8	28904	broad.mit.edu	37	2	90260172	90260172	+	RNA	SNP	A	A	G			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr2:90260172A>G	ENST00000471857.1	+	0	456									immunoglobulin kappa variable 1D-8																		TCTGGGACAGATTTCACTCTC	0.478																																						ENST00000471857.1																			0																				123.0	140.0	134.0					2																	90260172		1862	4106	5968			0							g.chr2:90260172A>G	Z00008		2p11.2	2012-02-08			ENSG00000239819	ENSG00000239819		"""Immunoglobulins / IGK locus"""	5759	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151570		2.37:g.90260172A>G														0	456	+									RNA	SNP	ENST00000471857.1	37																																																																																						0.478	IGKV1D-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323145.2	NG_000833		26	170	0	0	0	0.091800	0	26	170				
PGM3	5238	broad.mit.edu	37	6	83898366	83898366	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr6:83898366T>A	ENST00000283977.4	-	2	239	c.113A>T	c.(112-114)cAa>cTa	p.Q38L	PGM3_ENST00000506587.1_Missense_Mutation_p.Q147L|PGM3_ENST00000512866.1_Missense_Mutation_p.Q119L|PGM3_ENST00000513973.1_Missense_Mutation_p.Q119L					phosphoglucomutase 3									p.Q119L(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		AAAGGCATCTTGTTGCAGATT	0.398																																						ENST00000513973.1																			1	Substitution - Missense(1)	p.Q119L(1)	prostate(1)	NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18						c.(355-357)cAa>cTa		phosphoglucomutase 3							149.0	126.0	134.0					6																	83898366		2203	4300	6503	SO:0001583	missense	5238				dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity	g.chr6:83898366T>A	BC001258	CCDS4997.1, CCDS56435.1, CCDS56436.1, CCDS75487.1	6q14.1-q15	2012-10-02			ENSG00000013375	ENSG00000013375	5.4.2.3		8907	protein-coding gene	gene with protein product	"""acetylglucosamine phosphomutase"""	172100				12174217, 10721701	Standard	NM_001199917		Approved	AGM1, DKFZP434B187, PAGM	uc011dyz.2	O95394	OTTHUMG00000015110	ENST00000283977.4:c.113A>T	6.37:g.83898366T>A	ENSP00000283977:p.Gln38Leu					PGM3_ENST00000512866.1_Missense_Mutation_p.Q119L|PGM3_ENST00000506587.1_Missense_Mutation_p.Q147L|PGM3_ENST00000283977.4_Missense_Mutation_p.Q38L	p.Q119L	NM_001199918.1|NM_015599.2	NP_001186847.1|NP_056414.1	O95394	AGM1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0478)	3	472	-		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)	119						Missense_Mutation	SNP	ENST00000283977.4	37	c.356A>T		.	.	.	.	.	.	.	.	.	.	T	9.066	0.995604	0.19043	.	.	ENSG00000013375	ENST00000513973;ENST00000512866;ENST00000283977;ENST00000506587;ENST00000510258;ENST00000507554;ENST00000508748	T;T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07;-0.07	5.82	5.82	0.92795	Alpha-D-phosphohexomutase, alpha/beta/alpha domain I (1);Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);	0.204155	0.52532	D	0.000074	T	0.35335	0.0928	L	0.33624	1.015	0.45791	D	0.998671	B;B;B	0.11235	0.004;0.003;0.002	B;B;B	0.16289	0.015;0.012;0.01	T	0.28681	-1.0036	10	0.15952	T	0.53	-41.8688	16.1685	0.81786	0.0:0.0:0.0:1.0	.	147;147;119	E9PF86;B4DX94;O95394	.;.;AGM1_HUMAN	L	119;119;38;147;38;119;147	ENSP00000424874:Q119L;ENSP00000421565:Q119L;ENSP00000283977:Q38L;ENSP00000425809:Q147L;ENSP00000427420:Q38L;ENSP00000425558:Q119L	ENSP00000283977:Q38L	Q	-	2	0	PGM3	83955085	1.000000	0.71417	0.857000	0.33713	0.004000	0.04260	3.198000	0.51035	2.225000	0.72522	0.528000	0.53228	CAA		0.398	PGM3-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000366385.2	NM_015599		5	81	0	0	0	0.038147	0	5	81				
NLRP3	114548	broad.mit.edu	37	1	247587215	247587215	+	Missense_Mutation	SNP	G	G	A	rs533920557		TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr1:247587215G>A	ENST00000336119.3	+	3	1216	c.470G>A	c.(469-471)cGt>cAt	p.R157H	NLRP3_ENST00000348069.2_Missense_Mutation_p.R157H|NLRP3_ENST00000366496.2_Missense_Mutation_p.R157H|NLRP3_ENST00000366497.2_Missense_Mutation_p.R157H|NLRP3_ENST00000391828.3_Missense_Mutation_p.R157H|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391827.2_Missense_Mutation_p.R157H	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	157					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)	p.R157H(2)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AGGAATGCCCGTCTGGGTGAG	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		21031	0.001		0.0	False		,,,				2504	0.0					ENST00000366497.2																			2	Substitution - Missense(2)	p.R157H(2)	prostate(1)|endometrium(1)	NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142						c.(469-471)cGt>cAt		NLR family, pyrin domain containing 3							95.0	75.0	82.0					1																	247587215		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247587215G>A	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.470G>A	1.37:g.247587215G>A	ENSP00000337383:p.Arg157His					NLRP3_ENST00000391827.2_Missense_Mutation_p.R157H|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000336119.3_Missense_Mutation_p.R157H|NLRP3_ENST00000348069.2_Missense_Mutation_p.R157H|NLRP3_ENST00000366496.2_Missense_Mutation_p.R157H|NLRP3_ENST00000391828.3_Missense_Mutation_p.R157H	p.R157H	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		4	1250	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	157					B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.470G>A	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.359037	0.61403	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	D;D;D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48;-2.48;-2.48	4.27	4.27	0.50696	.	0.000000	0.51477	D	0.000081	D	0.92319	0.7563	M	0.71206	2.165	0.33532	D	0.593746	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.997;0.958	D;D;D;D;P	0.97110	0.917;0.975;1.0;0.924;0.585	D	0.90744	0.4652	10	0.15066	T	0.55	.	12.5127	0.56015	0.0:0.0:1.0:0.0	.	157;157;157;157;157	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	H	157	ENSP00000375704:R157H;ENSP00000355453:R157H;ENSP00000337383:R157H;ENSP00000294752:R157H;ENSP00000355452:R157H;ENSP00000375703:R157H	ENSP00000337383:R157H	R	+	2	0	NLRP3	245653838	0.043000	0.20138	0.997000	0.53966	0.916000	0.54674	2.089000	0.41672	2.669000	0.90835	0.655000	0.94253	CGT		0.522	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		5	34	0	0	0	0.014758	0	5	34				
GLUD1P2	100381203	broad.mit.edu	37	10	48968566	48968566	+	RNA	SNP	A	A	G	rs201727873		TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr10:48968566A>G	ENST00000594520.1	+	0	723									glutamate dehydrogenase 1 pseudogene 2																		ACAGGATAACAAACTGGAAAA	0.318																																						ENST00000594520.1																			0																																																			0							g.chr10:48968566A>G	X66313, X66315, X66319		10q11.22	2013-02-15	2010-01-18	2010-01-18	ENSG00000227781				4337	pseudogene	pseudogene			"""glutamate dehydrogenase pseudogene 2"""	GLUDP2		8486350	Standard			Approved				OTTHUMG00000018156		10.37:g.48968566A>G														0	723	+									RNA	SNP	ENST00000594520.1	37																																																																																						0.318	GLUD1P2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000461126.1	NG_016765		6	24	0	0	0	0.029380	0	6	24				
GOLGA3	2802	broad.mit.edu	37	12	133351742	133351742	+	Silent	SNP	G	G	A	rs376953827		TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr12:133351742G>A	ENST00000450791.2	-	21	4311	c.4128C>T	c.(4126-4128)cgC>cgT	p.R1376R	GOLGA3_ENST00000204726.3_Silent_p.R1376R|GOLGA3_ENST00000456883.2_Silent_p.R1376R			Q08378	GOGA3_HUMAN	golgin A3	1376					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.R1376R(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TGGCCGCGCCGCGGCGTAGGT	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		16686	0.0		0.0	False		,,,				2504	0.001					ENST00000204726.3																			1	Substitution - coding silent(1)	p.R1376R(1)	prostate(1)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(4126-4128)cgC>cgT		golgin A3		G		0,4406		0,0,2203	55.0	50.0	52.0		4128	-9.6	0.0	12		52	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GOLGA3	NM_005895.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1376/1499	133351742	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133351742G>A	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.4128C>T	12.37:g.133351742G>A						GOLGA3_ENST00000456883.2_Silent_p.R1376R|GOLGA3_ENST00000450791.2_Silent_p.R1376R	p.R1376R	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	22	4686	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	1376					A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Silent	SNP	ENST00000450791.2	37	c.4128C>T	CCDS9281.1																																																																																				0.587	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		6	57	0	0	0	0.029380	0	6	57				
CLDN7	1366	broad.mit.edu	37	17	7163815	7163815	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr17:7163815A>C	ENST00000360325.7	-	4	948	c.514T>G	c.(514-516)Tct>Gct	p.S172A	CLDN7_ENST00000573745.1_5'Flank|CLDN7_ENST00000538261.3_Silent_p.G143G|CLDN7_ENST00000397317.4_Missense_Mutation_p.S172A|RP1-4G17.5_ENST00000577138.1_Intron	NM_001307.5	NP_001298.3	O95471	CLD7_HUMAN	claudin 7	172					calcium-independent cell-cell adhesion (GO:0016338)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.S172A(1)		kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	6						ACTAGGGCAGACCCTGCCCAG	0.572																																						ENST00000360325.7																			1	Substitution - Missense(1)	p.S172A(1)	prostate(1)	kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	6						c.(514-516)Tct>Gct		claudin 7																																				SO:0001583	missense	1366				calcium-independent cell-cell adhesion	integral to membrane|lateral plasma membrane|tight junction	identical protein binding|structural molecule activity	g.chr17:7163815A>C	AJ011497	CCDS11096.1, CCDS54081.1	17p13.1	2013-09-20			ENSG00000181885	ENSG00000181885		"""Claudins"""	2049	protein-coding gene	gene with protein product		609131		CEPTRL2, CPETRL2		9892664	Standard	NM_001307		Approved	Hs.84359	uc002gfm.4	O95471	OTTHUMG00000178005	ENST00000360325.7:c.514T>G	17.37:g.7163815A>C	ENSP00000353475:p.Ser172Ala					CLDN7_ENST00000538261.3_Silent_p.G143G|RP1-4G17.5_ENST00000577138.1_Intron|CLDN7_ENST00000397317.4_Missense_Mutation_p.S172A	p.S172A	NM_001307.5	NP_001298.3	O95471	CLD7_HUMAN			4	948	-			172					B2R9X7|D3DTP0|Q6IPN3|Q7Z4Y7|Q9BVN0	Missense_Mutation	SNP	ENST00000360325.7	37	c.514T>G	CCDS11096.1	.	.	.	.	.	.	.	.	.	.	A	3.194	-0.165202	0.06461	.	.	ENSG00000181885	ENST00000360325;ENST00000397317	D;D	0.87650	-2.28;-2.28	4.92	4.92	0.64577	.	0.115272	0.64402	D	0.000011	T	0.71962	0.3402	N	0.11651	0.15	0.80722	D	1	B	0.15141	0.012	B	0.17722	0.019	T	0.66532	-0.5900	10	0.02654	T	1	.	12.8138	0.57654	1.0:0.0:0.0:0.0	.	172	O95471	CLD7_HUMAN	A	172	ENSP00000353475:S172A;ENSP00000396638:S172A	ENSP00000353475:S172A	S	-	1	0	CLDN7	7104539	0.032000	0.19561	1.000000	0.80357	0.949000	0.60115	0.407000	0.21049	2.197000	0.70478	0.402000	0.26972	TCT		0.572	CLDN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440204.2	NM_001307		10	19	0	0	0	0.080935	0	10	19				
ZFP28	140612	broad.mit.edu	37	19	57065989	57065989	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr19:57065989C>T	ENST00000301318.3	+	8	1906	c.1835C>T	c.(1834-1836)aCt>aTt	p.T612I	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	612					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T612I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		AGGATTCATACTGGGGAGAAG	0.428																																					Ovarian(124;554 1662 19430 21141 52494)	ENST00000301318.3																			1	Substitution - Missense(1)	p.T612I(1)	prostate(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35						c.(1834-1836)aCt>aTt		ZFP28 zinc finger protein							96.0	106.0	103.0					19																	57065989		2203	4300	6503	SO:0001583	missense	140612				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57065989C>T		CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"""Zinc fingers, C2H2-type"", ""-"""	17801	protein-coding gene	gene with protein product			"""zinc finger protein 28 homolog (mouse)"""				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.1835C>T	19.37:g.57065989C>T	ENSP00000301318:p.Thr612Ile					AC007228.11_ENST00000596587.1_RNA	p.T612I	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN		GBM - Glioblastoma multiforme(193;0.0302)	8	1906	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	612					A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Missense_Mutation	SNP	ENST00000301318.3	37	c.1835C>T	CCDS12946.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.331671	0.60853	.	.	ENSG00000196867	ENST00000301318	T	0.25749	1.78	4.12	4.12	0.48240	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47455	D	0.000227	T	0.49133	0.1539	M	0.67700	2.07	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.52866	-0.8518	10	0.62326	D	0.03	.	15.643	0.77020	0.0:1.0:0.0:0.0	.	612	Q8NHY6	ZFP28_HUMAN	I	612	ENSP00000301318:T612I	ENSP00000301318:T612I	T	+	2	0	ZFP28	61757801	0.013000	0.17824	0.331000	0.25455	0.977000	0.68977	2.450000	0.44943	2.285000	0.76669	0.555000	0.69702	ACT		0.428	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458409.1	NM_020828		9	138	0	0	0	0.058154	0	9	138				
SREBF2	6721	broad.mit.edu	37	22	42264696	42264696	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr22:42264696A>T	ENST00000361204.4	+	3	786	c.620A>T	c.(619-621)cAg>cTg	p.Q207L		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	207	Gln-rich.				cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q207L(1)		NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CAGACAGTACAGGCCCAGCGG	0.612																																						ENST00000361204.4																			1	Substitution - Missense(1)	p.Q207L(1)	prostate(1)	NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(619-621)cAg>cTg		sterol regulatory element binding transcription factor 2							67.0	50.0	56.0					22																	42264696		2203	4300	6503	SO:0001583	missense	6721				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding	g.chr22:42264696A>T	U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"""Basic helix-loop-helix proteins"""	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.620A>T	22.37:g.42264696A>T	ENSP00000354476:p.Gln207Leu						p.Q207L	NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN			3	786	+			207			Gln-rich.		Q05BD5|Q6GTH7|Q86V36|Q9UH04	Missense_Mutation	SNP	ENST00000361204.4	37	c.620A>T	CCDS14023.1	.	.	.	.	.	.	.	.	.	.	A	17.07	3.296308	0.60086	.	.	ENSG00000198911	ENST00000361204;ENST00000444813;ENST00000457567	T	0.54279	0.58	5.89	5.89	0.94794	.	0.000000	0.64402	D	0.000010	T	0.55862	0.1947	N	0.19112	0.55	0.46317	D	0.998988	D	0.60160	0.987	D	0.67725	0.953	T	0.51601	-0.8685	10	0.17832	T	0.49	-21.1592	15.977	0.80076	1.0:0.0:0.0:0.0	.	207	Q12772	SRBP2_HUMAN	L	207	ENSP00000354476:Q207L	ENSP00000354476:Q207L	Q	+	2	0	SREBF2	40594642	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.590000	0.53979	2.251000	0.74343	0.533000	0.62120	CAG		0.612	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	NM_004599		14	28	0	0	0	0.119110	0	14	28				
TUBB8P7	197331	broad.mit.edu	37	16	90161926	90161926	+	RNA	SNP	T	T	C	rs8061283	byFrequency	TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr16:90161926T>C	ENST00000564451.1	+	0	1279				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.I221T(3)									CCCACACCCATCTATGGTGAC	0.527													.|||	3140	0.626997	0.9395	0.5	5008	,	,		11330	0.7847		0.4702	False		,,,				2504	0.2935					ENST00000567960.1																			3	Substitution - Missense(3)	p.I221T(3)	kidney(2)|prostate(1)																																																0							g.chr16:90161926T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161926T>C						TUBB8P7_ENST00000564451.1_RNA								0	662	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.527	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		7	39	0	0	0	0.029380	0	7	39				
SLC8B1	80024	broad.mit.edu	37	12	113748079	113748079	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr12:113748079A>C	ENST00000552014.1	-	13	1732	c.1217T>G	c.(1216-1218)tTt>tGt	p.F406C	SLC8B1_ENST00000202831.3_Missense_Mutation_p.F406C|SLC8B1_ENST00000553238.1_5'UTR|SLC8B1_ENST00000550047.1_5'Flank|SLC8B1_ENST00000546737.1_Missense_Mutation_p.F350C			Q6J4K2	NCKX6_HUMAN	solute carrier family 8 (sodium/lithium/calcium exchanger), member B1	406					cytosolic calcium ion homeostasis (GO:0051480)|glucose homeostasis (GO:0042593)|ion transport (GO:0006811)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of insulin secretion (GO:0050796)|response to stimulus (GO:0050896)|transmembrane transport (GO:0055085)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial crista (GO:0030061)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)|calcium:sodium antiporter activity involved in regulation of cardiac muscle cell membrane potential (GO:0086038)|protein homodimerization activity (GO:0042803)	p.F406C(1)									TGTGGCAAAAAAGGTCACTGA	0.587																																						ENST00000552014.1																			1	Substitution - Missense(1)	p.F406C(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						c.(1216-1218)tTt>tGt									78.0	74.0	75.0					12																	113748079		2203	4300	6503	SO:0001583	missense	0				response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity	g.chr12:113748079A>C	AK025886	CCDS31909.1	12q24.13	2013-07-19	2013-07-19	2013-07-19	ENSG00000089060	ENSG00000089060		"""Solute carriers"""	26175	protein-coding gene	gene with protein product		609841	"""solute carrier family 24 (sodium/potassium/calcium exchanger), member 6"", ""solute carrier family 24 (sodium/lithium/calcium exchanger), member 6"""	SLC24A6		14625281, 23506867	Standard	NM_024959		Approved	FLJ22233, NCKX6, NCLX	uc001tvc.3	Q6J4K2	OTTHUMG00000169566	ENST00000552014.1:c.1217T>G	12.37:g.113748079A>C	ENSP00000447091:p.Phe406Cys					SLC24A6_ENST00000546737.1_Missense_Mutation_p.F350C|SLC24A6_ENST00000553238.1_5'UTR|SLC24A6_ENST00000202831.3_Missense_Mutation_p.F406C	p.F406C			Q6J4K2	NCKX6_HUMAN			13	1732	-			406					A6NP50|Q4KMS9|Q6J4K1|Q9H6I8	Missense_Mutation	SNP	ENST00000552014.1	37	c.1217T>G	CCDS31909.1	.	.	.	.	.	.	.	.	.	.	A	15.64	2.894024	0.52121	.	.	ENSG00000089060	ENST00000552014;ENST00000202831;ENST00000377458;ENST00000546737	T;T;T	0.63744	-0.03;-0.03;-0.06	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.78786	0.4338	M	0.83603	2.65	0.80722	D	1	D;P	0.76494	0.999;0.908	D;P	0.65987	0.94;0.596	T	0.79603	-0.1735	10	0.36615	T	0.2	.	15.1886	0.73025	1.0:0.0:0.0:0.0	.	406;111	Q6J4K2;B3KSP6	NCKX6_HUMAN;.	C	406;406;350;350	ENSP00000447091:F406C;ENSP00000202831:F406C;ENSP00000450081:F350C	ENSP00000202831:F406C	F	-	2	0	SLC24A6	112232462	1.000000	0.71417	0.979000	0.43373	0.006000	0.05464	7.098000	0.76974	1.989000	0.58080	0.454000	0.30748	TTT		0.587	SLC8B1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404830.3	NM_024959		5	82	0	0	0	0.014758	0	5	82				
MED13	9969	broad.mit.edu	37	17	60028344	60028344	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr17:60028344G>A	ENST00000397786.2	-	28	6209	c.6133C>T	c.(6133-6135)Cgg>Tgg	p.R2045W		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	2045					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.R2045W(2)		breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GATAGTAGCCGATCAGTACTC	0.383																																						ENST00000397786.2																			2	Substitution - Missense(2)	p.R2045W(2)	large_intestine(1)|prostate(1)	breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(6133-6135)Cgg>Tgg		mediator complex subunit 13							102.0	91.0	94.0					17																	60028344		1886	4132	6018	SO:0001583	missense	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60028344G>A	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.6133C>T	17.37:g.60028344G>A	ENSP00000380888:p.Arg2045Trp						p.R2045W	NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN			28	6209	-			2045					B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	c.6133C>T	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	G	30	5.053105	0.93793	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	D	0.83506	-1.73	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.91784	0.7401	M	0.78916	2.43	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.91608	0.5300	10	0.87932	D	0	-10.8273	20.5792	0.99380	0.0:0.0:1.0:0.0	.	2045	Q9UHV7	MED13_HUMAN	W	2045;2044	ENSP00000380888:R2045W	ENSP00000262436:R2044W	R	-	1	2	MED13	57383126	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.115000	0.71566	2.873000	0.98535	0.561000	0.74099	CGG		0.383	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		6	45	0	0	0	0.021553	0	6	45				
OR5L2	26338	broad.mit.edu	37	11	55595260	55595260	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr11:55595260G>T	ENST00000378397.1	+	1	566	c.566G>T	c.(565-567)tGc>tTc	p.C189F		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	189						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C189F(1)		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)				AGTCTTGCTTGCTCTGATGTC	0.448										HNSCC(27;0.073)																												ENST00000378397.1																			1	Substitution - Missense(1)	p.C189F(1)	prostate(1)	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.(565-567)tGc>tTc		olfactory receptor, family 5, subfamily L, member 2							246.0	218.0	227.0					11																	55595260		2200	4296	6496	SO:0001583	missense	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55595260G>T	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.566G>T	11.37:g.55595260G>T	ENSP00000367650:p.Cys189Phe	HNSCC(27;0.073)					p.C189F	NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN			1	566	+		all_epithelial(135;0.208)	189					Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	37	c.566G>T	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	14.27	2.484822	0.44147	.	.	ENSG00000205030	ENST00000378397	T	0.00460	7.27	5.24	5.24	0.73138	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000023	T	0.01976	0.0062	H	0.96720	3.87	0.51233	D	0.999918	P	0.35944	0.529	P	0.46585	0.521	T	0.01657	-1.1302	10	0.87932	D	0	-33.4366	17.8302	0.88680	0.0:0.0:1.0:0.0	.	189	Q8NGL0	OR5L2_HUMAN	F	189	ENSP00000367650:C189F	ENSP00000367650:C189F	C	+	2	0	OR5L2	55351836	1.000000	0.71417	1.000000	0.80357	0.264000	0.26372	4.939000	0.63526	2.617000	0.88574	0.632000	0.83419	TGC		0.448	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		54	117	1	0	6.32628e-17	0.139131	8.22416e-17	54	117				
HGF	3082	broad.mit.edu	37	7	81346562	81346562	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr7:81346562C>T	ENST00000222390.5	-	11	1617	c.1391G>A	c.(1390-1392)tGc>tAc	p.C464Y	HGF_ENST00000457544.2_Missense_Mutation_p.C459Y	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	464	Kringle 4. {ECO:0000255|PROSITE- ProRule:PRU00121}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)	p.C464Y(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						AGAAATAGGGCAATAATCCCA	0.383																																						ENST00000222390.5																			1	Substitution - Missense(1)	p.C464Y(1)	prostate(1)	NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						c.(1390-1392)tGc>tAc		hepatocyte growth factor (hepapoietin A; scatter factor)							193.0	156.0	168.0					7																	81346562		2203	4300	6503	SO:0001583	missense	3082				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	g.chr7:81346562C>T		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.1391G>A	7.37:g.81346562C>T	ENSP00000222390:p.Cys464Tyr					HGF_ENST00000457544.2_Missense_Mutation_p.C459Y	p.C464Y	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN			11	1617	-			464			Kringle 4.		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	ENST00000222390.5	37	c.1391G>A	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.205176	0.79127	.	.	ENSG00000019991	ENST00000222390;ENST00000457544	D;D	0.93906	-3.31;-3.31	6.02	6.02	0.97574	Kringle (4);Kringle-like fold (1);	0.000000	0.85682	D	0.000000	D	0.98372	0.9459	H	0.98466	4.24	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.997;0.998	D	0.98863	1.0763	10	0.87932	D	0	.	20.547	0.99278	0.0:1.0:0.0:0.0	.	459;464	P14210-3;P14210	.;HGF_HUMAN	Y	464;459	ENSP00000222390:C464Y;ENSP00000391238:C459Y	ENSP00000222390:C464Y	C	-	2	0	HGF	81184498	1.000000	0.71417	0.984000	0.44739	0.954000	0.61252	6.690000	0.74567	2.850000	0.98022	0.650000	0.86243	TGC		0.383	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		8	72	0	0	0	0.047766	0	8	72				
EXOC2	55770	broad.mit.edu	37	6	491185	491185	+	Splice_Site	SNP	G	G	A			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr6:491185G>A	ENST00000230449.4	-	26	2696	c.2561C>T	c.(2560-2562)gCg>gTg	p.A854V	EXOC2_ENST00000448181.3_Splice_Site_p.A449V	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	854					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.A854V(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		TTCAAGTCTCGCCTGAAAATG	0.393																																						ENST00000230449.4																			1	Substitution - Missense(1)	p.A854V(1)	prostate(1)	breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46						c.e26-1		exocyst complex component 2							115.0	116.0	116.0					6																	491185		2203	4300	6503	SO:0001630	splice_region_variant	55770				exocytosis|protein transport			g.chr6:491185G>A	AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"""SEC5-like 1 (S. cerevisiae)"""	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.2560-1C>T	6.37:g.491185G>A						EXOC2_ENST00000448181.3_Splice_Site_p.A449_splice	p.A854_splice	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)	26	2696	-	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)	854					B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Splice_Site	SNP	ENST00000230449.4	37	c.2559_splice	CCDS34327.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.255333	0.80135	.	.	ENSG00000112685	ENST00000230449;ENST00000448181	T;T	0.50548	0.74;0.74	5.77	5.77	0.91146	.	0.046488	0.85682	D	0.000000	T	0.63082	0.2481	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.55872	-0.8072	10	0.18710	T	0.47	-15.6239	20.0027	0.97425	0.0:0.0:1.0:0.0	.	854	Q96KP1	EXOC2_HUMAN	V	854;449	ENSP00000230449:A854V;ENSP00000398113:A449V	ENSP00000230449:A854V	A	-	2	0	EXOC2	436185	1.000000	0.71417	0.972000	0.41901	0.329000	0.28539	9.298000	0.96132	2.722000	0.93159	0.637000	0.83480	GCG		0.393	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039627.1	NM_018303	Missense_Mutation	28	130	0	0	0	0.116897	0	28	130				
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977358	29977358	+	RNA	SNP	T	T	C			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr6:29977358T>C	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000444051.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		GATTTGTTCATGCCTTCCCTT	0.448																																						ENST00000376797.3																			0																																																			0							g.chr6:29977358T>C	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29977358T>C						ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA								0	731	-									RNA	SNP	ENST00000376797.3	37																																																																																						0.448	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		3	49	0	0	0	0.115264	0	3	49				
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473333	22473333	+	RNA	SNP	A	A	G	rs188158697		TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr15:22473333A>G	ENST00000557788.2	-	0	20							A6NJ16	IV4F8_HUMAN	immunoglobulin heavy variable 4/OR15-8 (non-functional)							extracellular region (GO:0005576)											CCAGGAGGAGAAAGAACCACA	0.512																																						ENST00000557788.2																			0																																																			0							g.chr15:22473333A>G	Z29598		15q11.2	2012-02-20	2008-09-15		ENSG00000259261	ENSG00000259261		"""Immunoglobulins / IGH orphons"""	5658	other	immunoglobulin gene			"""immunoglobulin heavy variable 4/OR15-8"", ""V-set and immunoglobulin domain containing 6"""	VSIG6		7951227	Standard			Approved	IGHV4/OR15-8, IGHV4OR158		A6NJ16	OTTHUMG00000171934		15.37:g.22473333A>G														0	20	-									RNA	SNP	ENST00000557788.2	37																																																																																						0.512	IGHV4OR15-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000415968.2			3	113	0	0	0	0.009096	0	3	113				
EP400	57634	broad.mit.edu	37	12	132547138	132547138	+	Silent	SNP	A	A	G	rs111782215|rs561398509	byFrequency	TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr12:132547138A>G	ENST00000333577.4	+	48	8443	c.8334A>G	c.(8332-8334)caA>caG	p.Q2778Q	EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000389562.2_Silent_p.Q2741Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2778	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2741Q(3)|p.Q2742Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcaacagcagcagc	0.602													G|||	74	0.0147764	0.028	0.0086	5008	,	,		14914	0.0079		0.0119	False		,,,				2504	0.0112					ENST00000333577.4																			4	Substitution - coding silent(4)	p.Q2741Q(3)|p.Q2742Q(1)	prostate(2)|endometrium(1)|kidney(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8332-8334)caA>caG		E1A binding protein p400							48.0	40.0	43.0					12																	132547138		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547138A>G	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8334A>G	12.37:g.132547138A>G						EP400_ENST00000389562.2_Silent_p.Q2741Q|EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000389561.2_Silent_p.Q2742Q	p.Q2778Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8443	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2778			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8334A>G																																																																																					0.602	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		3	72	0	0	0	0.115264	0	3	72				
LOC101927209	101927209	broad.mit.edu	37	1	142713944	142713944	+	lincRNA	SNP	C	C	T	rs199960649		TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr1:142713944C>T	ENST00000610091.1	-	0	1714																											TGATTACCTCCGAAGTTAAAG	0.308																																						ENST00000369381.2																			0																																																			0							g.chr1:142713944C>T																													1.37:g.142713944C>T														0	661	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.308	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			4	27	0	0	0	0.009096	0	4	27				
ITGBL1	9358	broad.mit.edu	37	13	102359193	102359193	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr13:102359193C>T	ENST00000376180.3	+	9	1439	c.1220C>T	c.(1219-1221)aCg>aTg	p.T407M	ITGBL1_ENST00000545560.2_Missense_Mutation_p.T266M|ITGBL1_ENST00000376162.3_Missense_Mutation_p.T314M	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	407	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)		p.T407M(1)		breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGTAACATGACGGAAGAACAA	0.517																																						ENST00000376180.3																			1	Substitution - Missense(1)	p.T407M(1)	prostate(1)	breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31						c.(1219-1221)aCg>aTg		integrin, beta-like 1 (with EGF-like repeat domains)							178.0	149.0	158.0					13																	102359193		2203	4300	6503	SO:0001583	missense	9358				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity	g.chr13:102359193C>T	AF072752	CCDS9499.1, CCDS61361.1, CCDS61362.1, CCDS73594.1	13q33	2008-07-18			ENSG00000198542	ENSG00000198542			6164	protein-coding gene	gene with protein product	"""ten integrin EGF-like repeat domains protein"", ""ITGBL1, integrin beta-like 1"""	604234				10051402	Standard	NM_004791		Approved	TIED, OSCP	uc001vpb.4	O95965	OTTHUMG00000017296	ENST00000376180.3:c.1220C>T	13.37:g.102359193C>T	ENSP00000365351:p.Thr407Met					ITGBL1_ENST00000376162.3_Missense_Mutation_p.T314M|ITGBL1_ENST00000545560.2_Missense_Mutation_p.T266M	p.T407M	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN			9	1439	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		407			Cysteine-rich tandem repeats.		A8K5M5|B3KTP1|B4DQ02|Q8N172|Q9NPR0	Missense_Mutation	SNP	ENST00000376180.3	37	c.1220C>T	CCDS9499.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.329687	0.81690	.	.	ENSG00000198542	ENST00000376180;ENST00000537118;ENST00000539955;ENST00000545560;ENST00000376162	D;D;D	0.92858	-3.12;-3.12;-3.12	5.91	5.91	0.95273	.	0.042951	0.85682	D	0.000000	D	0.95472	0.8529	M	0.69823	2.125	0.51767	D	0.999933	D;D	0.89917	1.0;0.999	P;D	0.65010	0.877;0.931	D	0.93712	0.7025	10	0.33940	T	0.23	.	20.2789	0.98501	0.0:1.0:0.0:0.0	.	266;407	B3KTP1;O95965	.;ITGBL_HUMAN	M	407;315;266;266;314	ENSP00000365351:T407M;ENSP00000439903:T266M;ENSP00000365332:T314M	ENSP00000365332:T314M	T	+	2	0	ITGBL1	101157194	1.000000	0.71417	0.968000	0.41197	0.997000	0.91878	5.914000	0.69964	2.801000	0.96364	0.655000	0.94253	ACG		0.517	ITGBL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045669.2	NM_004791		7	139	0	0	0	0.038147	0	7	139				
IFT57	55081	broad.mit.edu	37	3	107885800	107885800	+	Silent	SNP	A	A	G	rs143767161		TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr3:107885800A>G	ENST00000264538.3	-	8	1129	c.882T>C	c.(880-882)acT>acC	p.T294T	IFT57_ENST00000468021.1_5'UTR	NM_018010.3	NP_060480.1	Q9NWB7	IFT57_HUMAN	intraflagellar transport 57	294					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cilium assembly (GO:0042384)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|Golgi apparatus (GO:0005794)|intraciliary transport particle B (GO:0030992)|photoreceptor connecting cilium (GO:0032391)	DNA binding (GO:0003677)	p.T294T(1)		kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14			OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)			CCAAAGTCCTAGTAATTTCAT	0.358																																						ENST00000264538.3																			1	Substitution - coding silent(1)	p.T294T(1)	prostate(1)	kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14						c.(880-882)acT>acC		intraflagellar transport 57 homolog (Chlamydomonas)		A		2,4404	2.1+/-5.4	0,2,2201	103.0	98.0	100.0		882	2.1	1.0	3	dbSNP_134	100	0,8600		0,0,4300	no	coding-synonymous	IFT57	NM_018010.3		0,2,6501	GG,GA,AA		0.0,0.0454,0.0154		294/430	107885800	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	55081				activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cilium|microtubule basal body	DNA binding|protein binding	g.chr3:107885800A>G	AK001009	CCDS2951.1	3q13.13	2014-07-03	2014-07-03	2005-11-02	ENSG00000114446	ENSG00000114446		"""Intraflagellar transport homologs"""	17367	protein-coding gene	gene with protein product		606621	"""estrogen-related receptor beta like 1"", ""intraflagellar transport 57 homolog (Chlamydomonas)"""	ESRRBL1			Standard	NM_018010		Approved	FLJ10147, HIPPI, MHS4R2	uc003dwx.4	Q9NWB7	OTTHUMG00000159223	ENST00000264538.3:c.882T>C	3.37:g.107885800A>G						IFT57_ENST00000468021.1_5'UTR	p.T294T	NM_018010.3	NP_060480.1	Q9NWB7	IFT57_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)		8	1129	-			294					Q96DA9	Silent	SNP	ENST00000264538.3	37	c.882T>C	CCDS2951.1																																																																																				0.358	IFT57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353918.1	NM_018010		9	26	0	0	0	0.058154	0	9	26				
UIMC1	51720	broad.mit.edu	37	5	176396017	176396017	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr5:176396017C>A	ENST00000377227.4	-	6	871	c.739G>T	c.(739-741)Gtc>Ttc	p.V247F	UIMC1_ENST00000511320.1_Missense_Mutation_p.V247F|UIMC1_ENST00000503273.1_5'Flank|UIMC1_ENST00000377219.2_Missense_Mutation_p.V247F|UIMC1_ENST00000506128.1_Intron			Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	247				V -> C (in Ref. 3; AAG59851). {ECO:0000305}.	double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|histone H2A K63-linked deubiquitination (GO:0070537)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)	BRCA1-A complex (GO:0070531)|nucleus (GO:0005634)	histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)	p.V247F(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTACCCTGGACAGCTTTGAGA	0.527																																						ENST00000377219.2																			1	Substitution - Missense(1)	p.V247F(1)	prostate(1)	NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21						c.(739-741)Gtc>Ttc		ubiquitin interaction motif containing 1							121.0	128.0	126.0					5																	176396017		2203	4300	6503	SO:0001583	missense	51720				double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	histone binding|K63-linked polyubiquitin binding	g.chr5:176396017C>A	AF349313	CCDS4408.1	5q35.2	2008-02-05			ENSG00000087206	ENSG00000087206			30298	protein-coding gene	gene with protein product	"""receptor associated protein 80"""	609433				12080054	Standard	NM_001199297		Approved	RAP80	uc021yin.1	Q96RL1	OTTHUMG00000130852	ENST00000377227.4:c.739G>T	5.37:g.176396017C>A	ENSP00000366434:p.Val247Phe					UIMC1_ENST00000511320.1_Missense_Mutation_p.V247F|UIMC1_ENST00000377227.4_Missense_Mutation_p.V247F|UIMC1_ENST00000506128.1_Intron	p.V247F	NM_016290.4	NP_057374.3	Q96RL1	UIMC1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	905	-	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	247	V -> C (in Ref. 3; AAG59851).				A8MSA1|B3KMZ1|B4E3N2|Q5XKQ1|Q7Z3W7|Q8N5B9|Q9BZR1|Q9BZR5|Q9UHX7	Missense_Mutation	SNP	ENST00000377227.4	37	c.739G>T	CCDS4408.1	.	.	.	.	.	.	.	.	.	.	C	6.142	0.394411	0.11638	.	.	ENSG00000087206	ENST00000377227;ENST00000377219;ENST00000511320;ENST00000377220	T;T;T	0.15834	2.39;2.39;2.39	5.17	-0.622	0.11560	.	0.627605	0.15753	N	0.246303	T	0.11067	0.0270	L	0.34521	1.04	0.09310	N	0.999998	B;P	0.35656	0.32;0.514	B;B	0.38056	0.081;0.264	T	0.18335	-1.0340	10	0.62326	D	0.03	1.313	2.9106	0.05736	0.4923:0.27:0.1432:0.0945	.	247;169	Q96RL1;Q96RL1-3	UIMC1_HUMAN;.	F	247;247;247;169	ENSP00000366434:V247F;ENSP00000366425:V247F;ENSP00000421926:V247F	ENSP00000366425:V247F	V	-	1	0	UIMC1	176328623	0.393000	0.25237	0.700000	0.30305	0.315000	0.28087	0.416000	0.21198	-0.003000	0.14444	-0.169000	0.13324	GTC		0.527	UIMC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253422.1	NM_016290		6	145	1	0	3.59834e-05	0.021553	4.318e-05	6	145				
FARSB	10056	broad.mit.edu	37	2	223507640	223507640	+	Missense_Mutation	SNP	C	C	T	rs139085353		TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr2:223507640C>T	ENST00000281828.6	-	3	462	c.199G>A	c.(199-201)Gtc>Atc	p.V67I	FARSB_ENST00000536361.1_5'UTR	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	67					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|RNA binding (GO:0003723)	p.V67I(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	TTGGCAGGGACGTCAATTTTG	0.388													C|||	1	0.000199681	0.0	0.0	5008	,	,		15348	0.001		0.0	False		,,,				2504	0.0					ENST00000281828.6																			1	Substitution - Missense(1)	p.V67I(1)	prostate(1)	breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(199-201)Gtc>Atc		phenylalanyl-tRNA synthetase, beta subunit	L-Phenylalanine(DB00120)						92.0	87.0	88.0					2																	223507640		2203	4300	6503	SO:0001583	missense	10056				phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding	g.chr2:223507640C>T	AF042346	CCDS2454.1	2q36.2	2011-07-01	2007-02-23	2007-02-23	ENSG00000116120	ENSG00000116120	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	17800	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 1, beta, cytoplasmic"""	609690	"""phenylalanyl-tRNA synthetase-like, beta subunit"""	FARSLB		10049785	Standard	NM_005687		Approved	PheHB, FRSB	uc002vne.1	Q9NSD9	OTTHUMG00000133155	ENST00000281828.6:c.199G>A	2.37:g.223507640C>T	ENSP00000281828:p.Val67Ile					FARSB_ENST00000536361.1_5'UTR	p.V67I	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	3	462	-		Renal(207;0.0183)	67					B4DFM0|O95708|Q4ZFX1|Q57ZJ5|Q9NZZ6	Missense_Mutation	SNP	ENST00000281828.6	37	c.199G>A	CCDS2454.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	10.33	1.320396	0.23994	.	.	ENSG00000116120	ENST00000281828	.	.	.	5.62	5.62	0.85841	DNA binding domain, putative (1);	0.000000	0.85682	D	0.000000	T	0.41282	0.1152	N	0.17594	0.5	0.80722	D	1	B;B	0.17038	0.02;0.005	B;B	0.17979	0.02;0.003	T	0.39603	-0.9606	9	0.02654	T	1	-19.9392	19.6753	0.95930	0.0:1.0:0.0:0.0	.	67;67	A8K666;Q9NSD9	.;SYFB_HUMAN	I	67	.	ENSP00000281828:V67I	V	-	1	0	FARSB	223215884	1.000000	0.71417	0.932000	0.37286	0.963000	0.63663	5.780000	0.68956	2.648000	0.89879	0.563000	0.77884	GTC		0.388	FARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256855.2	NM_005687		13	27	0	0	0	0.132662	0	13	27				
FRG1B	284802	broad.mit.edu	37	20	29625891	29625891	+	Silent	SNP	C	C	G			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr20:29625891C>G	ENST00000278882.3	+	5	515	c.135C>G	c.(133-135)ggC>ggG	p.G45G	FRG1B_ENST00000439954.2_Silent_p.G50G|FRG1B_ENST00000358464.4_Silent_p.G45G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	45										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TGAAATCTGGCTATGGAAAAT	0.343																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(133-135)ggC>ggG																																						SO:0001819	synonymous_variant	0							g.chr20:29625891C>G			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.135C>G	20.37:g.29625891C>G						FRG1B_ENST00000358464.4_Silent_p.G45G|FRG1B_ENST00000439954.2_Silent_p.G50G	p.G45G							5	515	+								C4AME5	Silent	SNP	ENST00000278882.3	37	c.135C>G																																																																																					0.343	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		3	104	0	0	0	0.009096	0	3	104				
TUBB2B	347733	broad.mit.edu	37	6	3226894	3226894	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr6:3226894C>A	ENST00000259818.7	-	2	258	c.67G>T	c.(67-69)Gtc>Ttc	p.V23F	TUBB2B_ENST00000473006.1_5'UTR	NM_178012.4	NP_821080.1	Q9BVA1	TBB2B_HUMAN	tubulin, beta 2B class IIb	23					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|neuron migration (GO:0001764)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.V23F(1)		kidney(2)|large_intestine(5)|lung(1)|prostate(1)|skin(1)	10	Ovarian(93;0.0386)	all_hematologic(90;0.108)				TCACTGATGACCTCCCAAAAC	0.498																																						ENST00000259818.7																			1	Substitution - Missense(1)	p.V23F(1)	prostate(1)	kidney(2)|large_intestine(5)|lung(1)|prostate(1)|skin(1)	10						c.(67-69)Gtc>Ttc		tubulin, beta 2B class IIb							142.0	132.0	135.0					6																	3226894		2203	4300	6503	SO:0001583	missense	347733				'de novo' posttranslational protein folding|microtubule-based movement|neuron migration|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr6:3226894C>A	BC001352	CCDS4485.1	6p25.2	2011-10-10	2011-10-10		ENSG00000137285	ENSG00000137285		"""Tubulins"""	30829	protein-coding gene	gene with protein product	"""class IIb beta-tubulin"""	612850	"""tubulin, beta 2B"""			8619474, 9110174	Standard	NM_178012		Approved	MGC8685, DKFZp566F223, bA506K6.1	uc003mvg.3	Q9BVA1	OTTHUMG00000014143	ENST00000259818.7:c.67G>T	6.37:g.3226894C>A	ENSP00000259818:p.Val23Phe					TUBB2B_ENST00000473006.1_5'UTR	p.V23F	NM_178012.4	NP_821080.1	Q9BVA1	TBB2B_HUMAN			2	258	-	Ovarian(93;0.0386)	all_hematologic(90;0.108)	23					A8K068	Missense_Mutation	SNP	ENST00000259818.7	37	c.67G>T	CCDS4485.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.528838	0.85706	.	.	ENSG00000137285	ENST00000259818	T	0.70516	-0.49	5.14	5.14	0.70334	Tubulin/FtsZ, GTPase domain (3);	0.000000	0.56097	D	0.000032	D	0.85978	0.5823	M	0.91612	3.225	0.80722	D	1	P;B	0.42584	0.784;0.362	P;D	0.63192	0.825;0.912	D	0.88357	0.2985	10	0.87932	D	0	.	18.6193	0.91316	0.0:1.0:0.0:0.0	.	23;23	Q8IZ29;Q9BVA1	.;TBB2B_HUMAN	F	23	ENSP00000259818:V23F	ENSP00000259818:V23F	V	-	1	0	TUBB2B	3171893	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.668000	0.83897	2.401000	0.81631	0.561000	0.74099	GTC		0.498	TUBB2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039680.2	NM_178012		15	158	1	0	2.31682e-05	0.132662	2.82363e-05	15	158				
TCN2	6948	broad.mit.edu	37	22	31022486	31022486	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr22:31022486A>T	ENST00000215838.3	+	9	1756	c.1262A>T	c.(1261-1263)gAg>gTg	p.E421V	TCN2_ENST00000407817.3_Missense_Mutation_p.E394V|TCN2_ENST00000405742.3_Missense_Mutation_p.E417V			P20062	TCO2_HUMAN	transcobalamin II	421					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)	p.E421V(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAAACCATTGAGCTGAGGCTG	0.567																																						ENST00000215838.3																			1	Substitution - Missense(1)	p.E421V(1)	prostate(1)	central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22						c.(1261-1263)gAg>gTg		transcobalamin II	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						126.0	100.0	109.0					22																	31022486		2203	4300	6503	SO:0001583	missense	6948				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding	g.chr22:31022486A>T		CCDS13881.1, CCDS54519.1	22q12.2	2014-09-17	2010-05-11		ENSG00000185339	ENSG00000185339			11653	protein-coding gene	gene with protein product	"""macrocytic anemia"""	613441	"""transcobalamin II; macrocytic anemia"""			1708393, 7742531	Standard	NM_000355		Approved	D22S676, D22S750, TC2	uc003aip.2	P20062	OTTHUMG00000151095	ENST00000215838.3:c.1262A>T	22.37:g.31022486A>T	ENSP00000215838:p.Glu421Val					TCN2_ENST00000405742.3_Missense_Mutation_p.E417V|TCN2_ENST00000407817.3_Missense_Mutation_p.E394V	p.E421V			P20062	TCO2_HUMAN			9	1756	+			421					Q96FD4|Q9BVI8|Q9UCI5|Q9UCI6|Q9UDM0	Missense_Mutation	SNP	ENST00000215838.3	37	c.1262A>T	CCDS13881.1	.	.	.	.	.	.	.	.	.	.	A	8.744	0.919640	0.17982	.	.	ENSG00000185339	ENST00000215838;ENST00000405742;ENST00000407817	T;T;T	0.30448	1.53;1.53;1.53	5.32	4.25	0.50352	.	0.262018	0.38720	N	0.001597	T	0.26376	0.0644	M	0.78801	2.425	0.80722	D	1	B;P;P	0.35348	0.278;0.496;0.496	B;B;B	0.33042	0.084;0.157;0.157	T	0.13737	-1.0498	10	0.02654	T	1	-16.0732	7.3035	0.26434	0.701:0.0:0.0:0.299	.	394;417;421	Q96FD4;B5MBX2;P20062	.;.;TCO2_HUMAN	V	421;417;394	ENSP00000215838:E421V;ENSP00000385914:E417V;ENSP00000384914:E394V	ENSP00000215838:E421V	E	+	2	0	TCN2	29352486	0.999000	0.42202	0.999000	0.59377	0.888000	0.51559	3.094000	0.50227	2.011000	0.59026	0.533000	0.62120	GAG		0.567	TCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321282.2	NM_000355		13	50	0	0	0	0.146539	0	13	50				
HIPK2	28996	broad.mit.edu	37	7	139268747	139268747	+	Silent	SNP	G	G	A	rs536797243		TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr7:139268747G>A	ENST00000406875.3	-	13	2875	c.2781C>T	c.(2779-2781)tcC>tcT	p.S927S	HIPK2_ENST00000428878.2_Silent_p.S900S|HIPK2_ENST00000342645.6_Silent_p.S827S	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	927	Interaction with TP53 and TP73.|Required for localization to nuclear speckles. {ECO:0000250}.				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)	p.S927S(1)		breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					TGGAGGAGTCGGAGTAGGGGG	0.547																																						ENST00000406875.3																			1	Substitution - coding silent(1)	p.S927S(1)	prostate(1)	breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2779-2781)tcC>tcT		homeodomain interacting protein kinase 2							107.0	118.0	114.0					7																	139268747		2121	4222	6343	SO:0001819	synonymous_variant	28996				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	g.chr7:139268747G>A	AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"""homeodomain-interacting protein kinase 2"""			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.2781C>T	7.37:g.139268747G>A						HIPK2_ENST00000342645.6_Silent_p.S827S|HIPK2_ENST00000428878.2_Silent_p.S900S	p.S927S	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN			13	2875	-	Melanoma(164;0.205)		927			Interaction with TP53 and TP73.|Required for localization to nuclear speckles (By similarity).		Q75MR7|Q8WWI4|Q9H2Y1	Silent	SNP	ENST00000406875.3	37	c.2781C>T																																																																																					0.547	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349430.3	NM_022740		4	87	0	0	0	0.009096	0	4	87				
TUBB8P7	197331	broad.mit.edu	37	16	90161902	90161902	+	RNA	SNP	A	A	G	rs6500471	byFrequency	TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr16:90161902A>G	ENST00000564451.1	+	0	1255				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.K213R(8)									ATATGTTCCAAGACCCTAAAA	0.537													.|||	3135	0.625998	0.9327	0.5014	5008	,	,		11498	0.7867		0.4702	False		,,,				2504	0.2945					ENST00000567960.1																			8	Substitution - Missense(8)	p.K213R(8)	kidney(4)|prostate(3)|urinary_tract(1)																																																0							g.chr16:90161902A>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161902A>G						TUBB8P7_ENST00000564451.1_RNA								0	638	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		7	40	0	0	0	0.047766	0	7	40				
ABCB10	23456	broad.mit.edu	37	1	229666037	229666037	+	Silent	SNP	C	C	T	rs140426197	byFrequency	TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr1:229666037C>T	ENST00000344517.4	-	8	1596	c.1554G>A	c.(1552-1554)ccG>ccA	p.P518P		NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	518	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.P518P(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				CAGATCCTGACGGAATGGAAA	0.507													C|||	13	0.00259585	0.0	0.0043	5008	,	,		18968	0.0		0.004	False		,,,				2504	0.0061					ENST00000344517.4																			1	Substitution - coding silent(1)	p.P518P(1)	prostate(1)	breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31						c.(1552-1554)ccG>ccA		ATP-binding cassette, sub-family B (MDR/TAP), member 10		C		3,4403	6.2+/-15.9	0,3,2200	124.0	117.0	119.0		1554	-7.5	0.0	1	dbSNP_134	119	53,8547	34.3+/-88.2	0,53,4247	no	coding-synonymous	ABCB10	NM_012089.2		0,56,6447	TT,TC,CC		0.6163,0.0681,0.4306		518/739	229666037	56,12950	2203	4300	6503	SO:0001819	synonymous_variant	23456					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity	g.chr1:229666037C>T	U18237	CCDS1580.1	1q32	2012-03-14			ENSG00000135776	ENSG00000135776		"""ATP binding cassette transporters / subfamily B"""	41	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family B member 10, mitochondrial"", ""ATP-binding cassette transporter 10"", ""ABC transporter 10 protein"", ""mitochondrial ATP-binding cassette 2"""	605454				7766993	Standard	NM_012089		Approved	EST20237, M-ABC2, MTABC2	uc001htp.4	Q9NRK6	OTTHUMG00000039471	ENST00000344517.4:c.1554G>A	1.37:g.229666037C>T							p.P518P	NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN			8	1596	-	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)	518			ABC transporter.		Q13040|Q6P1Q8|Q9H3V0	Silent	SNP	ENST00000344517.4	37	c.1554G>A	CCDS1580.1																																																																																				0.507	ABCB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095240.1	NM_012089		11	131	0	0	0	0.069234	0	11	131				
ARHGEF25	115557	broad.mit.edu	37	12	58004061	58004061	+	5'Flank	SNP	G	G	A	rs375023885		TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr12:58004061G>A	ENST00000286494.4	+	0	0				AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000444467.1_RNA|ARHGEF25_ENST00000333972.7_Missense_Mutation_p.G21D	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25							cytosol (GO:0005829)|myofibril (GO:0030016)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.G21D(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						GTCATGGGGGGCATGCTGCGC	0.701																																						ENST00000333972.7																			1	Substitution - Missense(1)	p.G21D(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(61-63)gGc>gAc		Rho guanine nucleotide exchange factor (GEF) 25		G	ASP/GLY	0,2668		0,0,1334	9.0	11.0	10.0		62	2.9	1.0	12		10	1,6321		0,1,3160	no	missense	ARHGEF25	NM_001111270.1	94	0,1,4494	AA,AG,GG		0.0158,0.0,0.0111	benign	21/620	58004061	1,8989	1334	3161	4495	SO:0001631	upstream_gene_variant	115557				regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity	g.chr12:58004061G>A		CCDS8947.1, CCDS44931.1	12q13.3	2011-11-16			ENSG00000240771	ENSG00000240771		"""Rho guanine nucleotide exchange factors"""	30275	protein-coding gene	gene with protein product	"""RAC/CDC42 exchange factor"""	610215				12547822	Standard	NM_182947		Approved	GEFT, p63RhoGEF	uc009zpy.4	Q86VW2	OTTHUMG00000152516		12.37:g.58004061G>A	Exception_encountered						p.G21D	NM_001111270.2	NP_001104740.1	Q86VW2	ARHGP_HUMAN			1	99	+			0					A6NJH5|A9CQZ6|F8W7Z4|Q8WV84|Q96E63	Missense_Mutation	SNP	ENST00000286494.4	37	c.62G>A	CCDS8947.1	.	.	.	.	.	.	.	.	.	.	g	14.35	2.510681	0.44660	0.0	1.58E-4	ENSG00000240771	ENST00000333972	T	0.61627	0.09	2.94	2.94	0.34122	.	.	.	.	.	T	0.33760	0.0874	N	0.14661	0.345	0.80722	D	1	P	0.44946	0.846	B	0.37550	0.253	T	0.06917	-1.0800	9	0.23302	T	0.38	.	9.4924	0.38967	0.0:0.0:1.0:0.0	.	21	F8W7Z4	.	D	21	ENSP00000335560:G21D	ENSP00000335560:G21D	G	+	2	0	ARHGEF25	56290328	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	2.833000	0.48159	1.655000	0.50712	0.313000	0.20887	GGC		0.701	ARHGEF25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000326561.1	NM_133483		4	29	0	0	0	0.021553	0	4	29				
AGAP10	728127	broad.mit.edu	37	10	47207813	47207813	+	Splice_Site	SNP	T	T	C	rs202014361	byFrequency	TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr10:47207813T>C	ENST00000452145.2	-	4	506	c.395A>G	c.(394-396)cAt>cGt	p.H132R	AGAP10_ENST00000413193.2_Splice_Site_p.H228R|RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000355232.3_Splice_Site_p.H157R			Q5T2P9	AGA10_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 10	132					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.H228R(20)		endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						TTTACTTACATGGTTTGTACA	0.294																																						ENST00000355232.3																			20	Substitution - Missense(20)	p.H228R(20)	endometrium(10)|prostate(4)|kidney(4)|urinary_tract(2)	endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						c.e5+1		ArfGAP with GTPase domain, ankyrin repeat and PH domain 10																																				SO:0001630	splice_region_variant	728127							g.chr10:47207813T>C	BC075841		10q11.22	2013-01-11	2008-09-22	2008-09-22	ENSG00000204172	ENSG00000204172		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23462	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 7"""	CTGLF7			Standard	XM_006709937		Approved	bA144G6.2		Q5T2P9	OTTHUMG00000018115	ENST00000452145.2:c.396+1A>G	10.37:g.47207813T>C						RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice|AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice	p.H157_splice							5	3482	-									Splice_Site	SNP	ENST00000452145.2	37	c.471_splice		.	.	.	.	.	.	.	.	.	.	t	0.012	-1.675265	0.00751	.	.	ENSG00000204172	ENST00000452145;ENST00000413193;ENST00000355232	D;T;D	0.87966	-2.32;2.68;-2.32	1.4	1.4	0.22301	.	0.264128	0.34555	N	0.003879	T	0.72486	0.3466	.	.	.	0.20764	N	0.999856	B	0.22003	0.063	B	0.19666	0.026	T	0.55471	-0.8136	9	0.16896	T	0.51	.	6.9024	0.24291	0.0:0.0:0.0:1.0	.	132	Q5T2P9	AGA10_HUMAN	R	132;228;157	ENSP00000392206:H132R;ENSP00000407436:H228R;ENSP00000347372:H157R	ENSP00000347372:H157R	H	-	2	0	AGAP10	46627819	1.000000	0.71417	1.000000	0.80357	0.105000	0.19272	3.704000	0.54815	0.898000	0.36418	0.163000	0.16589	CAT		0.294	AGAP10-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000047845.2	XM_001714786.2	Missense_Mutation	7	14	0	0	0	0.029380	0	7	14				
SBK2	646643	broad.mit.edu	37	19	56041233	56041233	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr19:56041233C>T	ENST00000413299.1	-	4	951	c.914G>A	c.(913-915)cGg>cAg	p.R305Q	SBK2_ENST00000344158.3_Missense_Mutation_p.R305Q	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	305	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R305Q(3)		endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						CAGCAGCCCCCGCAGAAGCGC	0.741																																						ENST00000413299.1																			3	Substitution - Missense(3)	p.R305Q(3)	prostate(3)	endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(913-915)cGg>cAg		SH3 domain binding kinase family, member 2							7.0	10.0	9.0					19																	56041233		1832	3946	5778	SO:0001583	missense	646643						ATP binding|protein serine/threonine kinase activity	g.chr19:56041233C>T		CCDS42631.1	19q13.42	2013-09-27	2013-09-27		ENSG00000187550	ENSG00000187550			34416	protein-coding gene	gene with protein product			"""SH3-binding domain kinase family, member 2"""				Standard	NM_001101401		Approved	SGK069	uc010ygc.2	P0C263	OTTHUMG00000155830	ENST00000413299.1:c.914G>A	19.37:g.56041233C>T	ENSP00000389015:p.Arg305Gln					SBK2_ENST00000344158.3_Missense_Mutation_p.R305Q	p.R305Q	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN			4	951	-			305			Protein kinase.			Missense_Mutation	SNP	ENST00000413299.1	37	c.914G>A	CCDS42631.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.334102	0.24253	.	.	ENSG00000187550	ENST00000413299;ENST00000344158	T;T	0.65364	-0.15;-0.15	3.94	1.7	0.24286	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.424204	0.24046	U	0.042054	T	0.42517	0.1206	L	0.48877	1.53	0.09310	N	0.999993	P	0.35807	0.522	B	0.23852	0.049	T	0.27157	-1.0082	10	0.10111	T	0.7	-7.0977	8.3128	0.32082	0.177:0.6519:0.1711:0.0	.	305	P0C263	SBK2_HUMAN	Q	305	ENSP00000389015:R305Q;ENSP00000345044:R305Q	ENSP00000345044:R305Q	R	-	2	0	SBK2	60733045	0.000000	0.05858	0.892000	0.35008	0.400000	0.30750	-0.827000	0.04424	0.416000	0.25844	0.467000	0.42956	CGG		0.741	SBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341919.1	NM_001101401		4	26	0	0	0	0.009096	0	4	26				
SLC4A2	6522	broad.mit.edu	37	7	150773232	150773232	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr7:150773232G>A	ENST00000485713.1	+	22	4644	c.3604G>A	c.(3604-3606)Gtg>Atg	p.V1202M	SLC4A2_ENST00000461735.1_Missense_Mutation_p.V1188M|SLC4A2_ENST00000310317.5_Missense_Mutation_p.V1120M|SLC4A2_ENST00000392826.2_Missense_Mutation_p.V1193M|SLC4A2_ENST00000413384.2_Missense_Mutation_p.V1202M|RP11-148K1.12_ENST00000485974.1_RNA|FASTK_ENST00000489884.1_5'Flank	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	1202	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)	p.V1202M(1)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCTCCGCATGGTGGTGCTCAC	0.627																																						ENST00000485713.1																			1	Substitution - Missense(1)	p.V1202M(1)	prostate(1)	NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(3604-3606)Gtg>Atg		solute carrier family 4 (anion exchanger), member 2							127.0	125.0	126.0					7																	150773232		2203	4300	6503	SO:0001583	missense	6522				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity	g.chr7:150773232G>A		CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"""Solute carriers"""	11028	protein-coding gene	gene with protein product	"""anion exchanger 2 type a"", ""anion exchanger 2 type b1"", ""anion exchanger 2 type b2"""	109280	"""erythrocyte membrane protein band 3-like 1"", ""solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"""	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.3604G>A	7.37:g.150773232G>A	ENSP00000419412:p.Val1202Met					RP11-148K1.12_ENST00000485974.1_RNA|SLC4A2_ENST00000413384.2_Missense_Mutation_p.V1202M|SLC4A2_ENST00000310317.5_Missense_Mutation_p.V1120M|SLC4A2_ENST00000461735.1_Missense_Mutation_p.V1188M|SLC4A2_ENST00000392826.2_Missense_Mutation_p.V1193M	p.V1202M	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	22	4644	+			1202			Membrane (anion exchange).		B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Missense_Mutation	SNP	ENST00000485713.1	37	c.3604G>A	CCDS5917.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.873799	0.51695	.	.	ENSG00000164889	ENST00000485713;ENST00000413384;ENST00000310317;ENST00000392826;ENST00000461735	T;T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94;-0.94	4.97	4.97	0.65823	.	0.143577	0.47852	N	0.000219	T	0.66538	0.2799	N	0.24115	0.695	0.42701	D	0.99361	B;P;P	0.39883	0.023;0.693;0.566	B;P;B	0.46585	0.037;0.521;0.321	T	0.65372	-0.6184	10	0.34782	T	0.22	.	10.7593	0.46256	0.0:0.0:0.7117:0.2883	.	1193;1188;1202	F8W682;P04920-2;P04920	.;.;B3A2_HUMAN	M	1202;1202;1120;1193;1188	ENSP00000419412:V1202M;ENSP00000405600:V1202M;ENSP00000311402:V1120M;ENSP00000376571:V1193M;ENSP00000419164:V1188M	ENSP00000311402:V1120M	V	+	1	0	SLC4A2	150404165	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.674000	0.54598	2.594000	0.87642	0.655000	0.94253	GTG		0.627	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040		6	137	0	0	0	0.029380	0	6	137				
POTEF	728378	broad.mit.edu	37	2	130832500	130832500	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr2:130832500T>C	ENST00000409914.2	-	17	2944	c.2545A>G	c.(2545-2547)Act>Gct	p.T849A	POTEF_ENST00000357462.5_Missense_Mutation_p.T849A	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	849	Actin-like.				retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.T849A(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						ACGATGCCAGTAGTACGGCCA	0.602																																						ENST00000357462.5																			1	Substitution - Missense(1)	p.T849A(1)	prostate(1)	breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						c.(2545-2547)Act>Gct		POTE ankyrin domain family, member F							83.0	99.0	94.0					2																	130832500		2196	4288	6484	SO:0001583	missense	728378					cell cortex	ATP binding	g.chr2:130832500T>C	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.2545A>G	2.37:g.130832500T>C	ENSP00000386786:p.Thr849Ala					POTEF_ENST00000409914.2_Missense_Mutation_p.T849A	p.T849A			A5A3E0	POTEF_HUMAN			15	2638	-			849			Actin-like.		A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	c.2545A>G	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	14.02	2.411700	0.42817	.	.	ENSG00000196604	ENST00000357462;ENST00000409914	T;T	0.10763	2.84;2.84	.	.	.	.	.	.	.	.	T	0.30510	0.0767	H	0.99090	4.425	0.80722	D	1	B	0.18310	0.027	B	0.33521	0.165	T	0.07966	-1.0745	8	0.87932	D	0	.	4.5487	0.12098	0.0:6.0E-4:0.0:0.9994	.	849	A5A3E0	POTEF_HUMAN	A	849	ENSP00000350052:T849A;ENSP00000386786:T849A	ENSP00000350052:T849A	T	-	1	0	POTEF	130548970	1.000000	0.71417	0.132000	0.22025	0.134000	0.20937	5.392000	0.66272	0.103000	0.17682	0.102000	0.15555	ACT		0.602	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		20	188	0	0	0	0.069288	0	20	188				
NAB2	4665	broad.mit.edu	37	12	57485446	57485446	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr12:57485446T>C	ENST00000300131.3	+	2	1000	c.622T>C	c.(622-624)Ttc>Ctc	p.F208L	NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000357680.4_Missense_Mutation_p.F208L|NAB2_ENST00000342556.6_Missense_Mutation_p.F208L	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	208					cell proliferation (GO:0008283)|endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|nervous system development (GO:0007399)|regulation of epidermis development (GO:0045682)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)	p.F208L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CTCGCCCCCCTTCTCCCCCCC	0.716																																						ENST00000300131.3																			1	Substitution - Missense(1)	p.F208L(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(622-624)Ttc>Ctc		NGFI-A binding protein 2 (EGR1 binding protein 2)							12.0	17.0	15.0					12																	57485446		2196	4277	6473	SO:0001583	missense	4665				cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity	g.chr12:57485446T>C	BC065931	CCDS8930.1	12q13.3	2008-05-14				ENSG00000166886			7627	protein-coding gene	gene with protein product		602381				8668170, 8649813	Standard	XM_005268894		Approved	MADER	uc001smz.3	Q15742		ENST00000300131.3:c.622T>C	12.37:g.57485446T>C	ENSP00000300131:p.Phe208Leu					NAB2_ENST00000357680.4_Missense_Mutation_p.F208L|NAB2_ENST00000342556.6_Missense_Mutation_p.F208L|NAB2_ENST00000554718.1_3'UTR	p.F208L	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN			2	1000	+			208					B2RAK3|O76006|Q14797	Missense_Mutation	SNP	ENST00000300131.3	37	c.622T>C	CCDS8930.1	.	.	.	.	.	.	.	.	.	.	T	10.87	1.473597	0.26423	.	.	ENSG00000166886	ENST00000300131;ENST00000342556;ENST00000357680	.	.	.	4.15	4.15	0.48705	NAB co-repressor, domain (1);	0.441905	0.22768	N	0.055868	T	0.21801	0.0525	N	0.11427	0.14	0.33270	D	0.560932	P	0.43826	0.818	B	0.41466	0.358	T	0.14392	-1.0474	9	0.10902	T	0.67	-12.462	9.5058	0.39046	0.0:0.0:0.0:1.0	.	208	Q15742	NAB2_HUMAN	L	208	.	ENSP00000300131:F208L	F	+	1	0	NAB2	55771713	0.994000	0.37717	0.852000	0.33557	0.975000	0.68041	0.652000	0.24888	1.732000	0.51606	0.379000	0.24179	TTC		0.716	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412222.1	NM_005967		5	41	0	0	0	0.029380	0	5	41				
ITPK1	3705	broad.mit.edu	37	14	93404856	93404856	+	3'UTR	SNP	C	C	T			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr14:93404856C>T	ENST00000267615.6	-	0	4468				ITPK1_ENST00000354313.3_Missense_Mutation_p.C306Y			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase						blood coagulation (GO:0007596)|dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|inositol trisphosphate metabolic process (GO:0032957)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|inositol tetrakisphosphate 1-kinase activity (GO:0047325)|inositol-1,3,4,5,6-pentakisphosphate 1-phosphatase activity (GO:0052825)|inositol-1,3,4,6-tetrakisphosphate 1-phosphatase activity (GO:0052831)|inositol-1,3,4,6-tetrakisphosphate 6-phosphatase activity (GO:0052830)|inositol-1,3,4-trisphosphate 5-kinase activity (GO:0052726)|inositol-1,3,4-trisphosphate 6-kinase activity (GO:0052725)|inositol-3,4,6-trisphosphate 1-kinase activity (GO:0052835)|isomerase activity (GO:0016853)|magnesium ion binding (GO:0000287)	p.C306Y(1)		endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		TTCTATAAAGCACACTTGGCA	0.527																																						ENST00000354313.3																			1	Substitution - Missense(1)	p.C306Y(1)	prostate(1)	endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11						c.(916-918)tGc>tAc		inositol-tetrakisphosphate 1-kinase							91.0	87.0	88.0					14																	93404856		1568	3582	5150	SO:0001624	3_prime_UTR_variant	3705				blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding	g.chr14:93404856C>T	U51336	CCDS9907.1, CCDS45157.1	14q32.12	2012-08-16	2011-04-28		ENSG00000100605	ENSG00000100605	2.7.1.134		6177	protein-coding gene	gene with protein product		601838	"""inositol 1,3,4-triphosphate 5/6 kinase"""			8662638, 11042108	Standard	NM_014216		Approved		uc001ybh.3	Q13572	OTTHUMG00000171226	ENST00000267615.6:c.*3050G>A	14.37:g.93404856C>T						ITPK1_ENST00000267615.6_3'UTR	p.C306Y	NM_001142594.1	NP_001136066.1	Q13572	ITPK1_HUMAN		Epithelial(152;0.124)|all cancers(159;0.169)	11	1205	-		all_cancers(154;0.077)|all_epithelial(191;0.247)	0			ATP-grasp.		Q9BTL6|Q9H2E7	Missense_Mutation	SNP	ENST00000267615.6	37	c.917G>A	CCDS9907.1	.	.	.	.	.	.	.	.	.	.	C	7.708	0.694610	0.15039	.	.	ENSG00000100605	ENST00000354313	.	.	.	2.78	1.84	0.25277	.	.	.	.	.	T	0.30324	0.0761	.	.	.	0.09310	N	0.999999	B	0.13145	0.007	B	0.12156	0.007	T	0.28618	-1.0038	7	0.87932	D	0	.	6.7852	0.23670	0.2787:0.7213:0.0:0.0	.	306	Q13572-2	.	Y	306	.	ENSP00000346272:C306Y	C	-	2	0	ITPK1	92474609	0.001000	0.12720	0.001000	0.08648	0.003000	0.03518	0.397000	0.20883	0.694000	0.31654	0.563000	0.77884	TGC		0.527	ITPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412421.2	NM_014216		4	44	0	0	0	0.009096	0	4	44				
RYR2	6262	broad.mit.edu	37	1	237870322	237870322	+	Silent	SNP	C	C	T			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr1:237870322C>T	ENST00000366574.2	+	68	9971	c.9654C>T	c.(9652-9654)atC>atT	p.I3218I	RYR2_ENST00000360064.6_Silent_p.I3216I|RYR2_ENST00000542537.1_Silent_p.I3202I|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3218					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.I3216I(1)|p.I3218I(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGGAAGAAATCGTGGAATTAG	0.453																																						ENST00000366574.2																			2	Substitution - coding silent(2)	p.I3216I(1)|p.I3218I(1)	prostate(2)	NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(9652-9654)atC>atT		ryanodine receptor 2 (cardiac)							130.0	127.0	128.0					1																	237870322		1940	4154	6094	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237870322C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.9654C>T	1.37:g.237870322C>T						RYR2_ENST00000360064.6_Silent_p.I3216I|RYR2_ENST00000542537.1_Silent_p.I3202I	p.I3218I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		68	9971	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3218					Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.9654C>T	CCDS55691.1																																																																																				0.453	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		11	153	0	0	0	0.080935	0	11	153				
PCDHAC1	56135	broad.mit.edu	37	5	140307487	140307487	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr5:140307487C>T	ENST00000253807.2	+	1	1010	c.1010C>T	c.(1009-1011)gCc>gTc	p.A337V	PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.A337V|PCDHA9_ENST00000532602.1_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	337	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A337V(1)		NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACGATCATGCCCCCGAACTG	0.532																																						ENST00000253807.2																			1	Substitution - Missense(1)	p.A337V(1)	prostate(1)	NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65						c.(1009-1011)gCc>gTc									172.0	158.0	163.0					5																	140307487		2203	4300	6503	SO:0001583	missense	0							g.chr5:140307487C>T	AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"""Cadherins / Protocadherins : Clustered"""	8676	other	complex locus constituent	"""PCDH-ALPHA-C1"""	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.1010C>T	5.37:g.140307487C>T	ENSP00000253807:p.Ala337Val					PCDHAC1_ENST00000409700.3_Missense_Mutation_p.A337V|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron	p.A337V	NM_018898.3	NP_061721.2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1010	+								Q9Y5F5|Q9Y5I5	Missense_Mutation	SNP	ENST00000253807.2	37	c.1010C>T	CCDS4241.1	.	.	.	.	.	.	.	.	.	.	C	7.841	0.722001	0.15372	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.02085	4.46;4.46	5.91	1.02	0.19986	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.02767	0.0083	L	0.60067	1.865	0.09310	N	0.999999	B;P	0.35192	0.238;0.489	B;B	0.36289	0.126;0.221	T	0.41910	-0.9482	9	0.42905	T	0.14	.	2.3287	0.04229	0.2152:0.4761:0.116:0.1926	.	337;337	Q9H158;Q9H158-2	PCDC1_HUMAN;.	V	337	ENSP00000386356:A337V;ENSP00000253807:A337V	ENSP00000253807:A337V	A	+	2	0	PCDHAC1	140287671	0.000000	0.05858	0.233000	0.24025	0.379000	0.30106	0.745000	0.26259	0.099000	0.17552	0.462000	0.41574	GCC		0.532	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	NM_018898		5	186	0	0	0	0.038147	0	5	186				
CPXM2	119587	broad.mit.edu	37	10	125530493	125530493	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr10:125530493G>T	ENST00000241305.3	-	8	1195	c.1041C>A	c.(1039-1041)agC>agA	p.S347R	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	347					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.S347R(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GGCCCTGGTGGCTTTTTCCAA	0.458																																						ENST00000241305.3																			1	Substitution - Missense(1)	p.S347R(1)	prostate(1)	NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47						c.(1039-1041)agC>agA		carboxypeptidase X (M14 family), member 2							276.0	284.0	282.0					10																	125530493		2203	4300	6503	SO:0001583	missense	119587				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:125530493G>T	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.1041C>A	10.37:g.125530493G>T	ENSP00000241305:p.Ser347Arg					CPXM2_ENST00000368854.3_5'UTR	p.S347R	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)	8	1195	-		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	347					B4E3Q2	Missense_Mutation	SNP	ENST00000241305.3	37	c.1041C>A	CCDS7637.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.106093	0.56291	.	.	ENSG00000121898	ENST00000241305;ENST00000540123;ENST00000418782	T	0.31510	1.49	4.42	1.44	0.22558	Peptidase M14, carboxypeptidase A (2);	0.092185	0.64402	D	0.000001	T	0.64193	0.2576	H	0.96996	3.92	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.69928	-0.5012	10	0.87932	D	0	-6.1769	9.291	0.37786	0.3077:0.0:0.6923:0.0	.	347	Q8N436	CPXM2_HUMAN	R	347;180;347	ENSP00000241305:S347R	ENSP00000241305:S347R	S	-	3	2	CPXM2	125520483	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.017000	0.40981	0.471000	0.27319	-0.229000	0.12294	AGC		0.458	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		45	284	1	0	3.68427e-32	0.117977	4.87073e-32	45	284				
ZNF131	7690	broad.mit.edu	37	5	43139402	43139402	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr5:43139402T>G	ENST00000399534.1	+	4	406	c.362T>G	c.(361-363)cTt>cGt	p.L121R	ZNF131_ENST00000306938.4_Missense_Mutation_p.L121R|ZNF131_ENST00000505606.2_Missense_Mutation_p.L121R|ZNF131_ENST00000509634.1_Missense_Mutation_p.L121R|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000509156.1_Missense_Mutation_p.L121R			P52739	ZN131_HUMAN	zinc finger protein 131	121					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L121R(1)		breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						ATCAAAGCCCTTGAAGTCAGG	0.358																																						ENST00000509634.1																			1	Substitution - Missense(1)	p.L121R(1)	prostate(1)	breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						c.(361-363)cTt>cGt		zinc finger protein 131							107.0	100.0	102.0					5																	43139402		1858	4102	5960	SO:0001583	missense	7690					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:43139402T>G	U09410	CCDS43313.1	5p12	2013-01-09	2006-06-13		ENSG00000172262	ENSG00000172262		"""Zinc fingers, C2H2-type"", ""-"", ""BTB/POZ domain containing"""	12915	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 35"""	604073	"""zinc finger protein 131 (clone pHZ-10)"""				Standard	XM_005248359		Approved	ZBTB35, pHZ-10	uc003jnk.3	P52739	OTTHUMG00000162223	ENST00000399534.1:c.362T>G	5.37:g.43139402T>G	ENSP00000382450:p.Leu121Arg					ZNF131_ENST00000509156.1_Missense_Mutation_p.L121R|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000399534.1_Missense_Mutation_p.L121R|ZNF131_ENST00000306938.4_Missense_Mutation_p.L121R|ZNF131_ENST00000505606.2_Missense_Mutation_p.L121R	p.L121R			P52739	ZN131_HUMAN			3	818	+			121					B4DRL3|Q6PIF0	Missense_Mutation	SNP	ENST00000399534.1	37	c.362T>G		.	.	.	.	.	.	.	.	.	.	T	23.0	4.366514	0.82463	.	.	ENSG00000172262	ENST00000515326;ENST00000509156;ENST00000508259;ENST00000306938;ENST00000399534;ENST00000505606;ENST00000509634;ENST00000509341	T;T;T;T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92	5.24	5.24	0.73138	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.127830	0.52532	D	0.000078	T	0.50343	0.1610	M	0.70595	2.14	0.51012	D	0.999904	D;D	0.76494	0.994;0.999	D;D	0.91635	0.94;0.999	T	0.50767	-0.8789	10	0.48119	T	0.1	-10.9617	15.1417	0.72615	0.0:0.0:0.0:1.0	.	121;121	P52739;P52739-2	ZN131_HUMAN;.	R	121	ENSP00000422079:L121R;ENSP00000426504:L121R;ENSP00000422659:L121R;ENSP00000305804:L121R;ENSP00000382450:L121R;ENSP00000423945:L121R;ENSP00000421246:L121R;ENSP00000424771:L121R	ENSP00000305804:L121R	L	+	2	0	ZNF131	43175159	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.381000	0.79718	1.964000	0.57103	0.533000	0.62120	CTT		0.358	ZNF131-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000367982.1	NM_003432		3	67	0	0	0	0.115264	0	3	67				
RP11-156P1.3	0	broad.mit.edu	37	17	45128685	45128685	+	RNA	SNP	T	T	C	rs532197977		TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr17:45128685T>C	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							TTCCAGGATATGGCTATACTG	0.303																																						ENST00000575173.1																			0																																																			0							g.chr17:45128685T>C																													17.37:g.45128685T>C														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.303	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			5	119	0	0	0	0.014758	0	5	119				
LTN1	26046	broad.mit.edu	37	21	30339290	30339290	+	Missense_Mutation	SNP	T	T	G	rs113622445	byFrequency	TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr21:30339290T>G	ENST00000361371.5	-	10	1602	c.1523A>C	c.(1522-1524)gAt>gCt	p.D508A	LTN1_ENST00000389195.2_Missense_Mutation_p.D554A|LTN1_ENST00000389194.2_Missense_Mutation_p.D554A			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	508					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.D508A(1)		NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						GGACTCAACATCAGCTTCTGG	0.393																																						ENST00000361371.4																			1	Substitution - Missense(1)	p.D508A(1)	prostate(1)	NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						c.(1522-1524)gAt>gCt		listerin E3 ubiquitin protein ligase 1							158.0	144.0	149.0					21																	30339290		2203	4300	6503	SO:0001583	missense	26046						ligase activity|zinc ion binding	g.chr21:30339290T>G	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.1523A>C	21.37:g.30339290T>G	ENSP00000354977:p.Asp508Ala					LTN1_ENST00000389195.2_Missense_Mutation_p.D554A|LTN1_ENST00000389194.2_Missense_Mutation_p.D554A	p.D508A	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN			10	1673	-			508					A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	ENST00000361371.5	37	c.1523A>C		.	.	.	.	.	.	.	.	.	.	T	13.41	2.228335	0.39399	.	.	ENSG00000198862	ENST00000389194;ENST00000361371;ENST00000389195	T;T;T	0.27402	2.02;2.04;1.67	5.02	3.87	0.44632	Armadillo-type fold (1);	0.051573	0.85682	D	0.000000	T	0.21962	0.0529	N	0.14661	0.345	0.49213	D	0.999762	D	0.54397	0.966	P	0.48738	0.588	T	0.02156	-1.1204	10	0.35671	T	0.21	.	8.2746	0.31864	0.0:0.1531:0.0:0.8469	.	508	O94822	LTN1_HUMAN	A	554;508;554	ENSP00000373846:D554A;ENSP00000354977:D508A;ENSP00000373847:D554A	ENSP00000354977:D508A	D	-	2	0	LTN1	29261161	1.000000	0.71417	0.347000	0.25668	0.032000	0.12392	5.341000	0.65964	1.038000	0.40049	0.528000	0.53228	GAT		0.393	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		10	117	0	0	0	0.080935	0	10	117				
ANG	283	broad.mit.edu	37	14	21161988	21161988	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr14:21161988C>T	ENST00000336811.6	+	2	865	c.265C>T	c.(265-267)Cac>Tac	p.H89Y	RNASE4_ENST00000555597.1_Intron|RNASE4_ENST00000397995.2_Intron|AL163636.6_ENST00000553909.1_Intron|ANG_ENST00000554073.1_Intron|RNASE4_ENST00000304704.4_Intron|RNASE4_ENST00000555835.1_Intron|ANG_ENST00000397990.4_Missense_Mutation_p.H89Y|RP11-903H12.3_ENST00000554286.1_RNA	NM_001145.4	NP_001136.1	P03950	ANGI_HUMAN	angiogenin, ribonuclease, RNase A family, 5	89					actin filament polymerization (GO:0030041)|activation of phospholipase A2 activity (GO:0032431)|activation of phospholipase C activity (GO:0007202)|activation of protein kinase B activity (GO:0032148)|angiogenesis (GO:0001525)|cell communication (GO:0007154)|cell death (GO:0008219)|cell migration (GO:0016477)|diacylglycerol biosynthetic process (GO:0006651)|homeostatic process (GO:0042592)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of translation (GO:0017148)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|oocyte maturation (GO:0001556)|ovarian follicle development (GO:0001541)|placenta development (GO:0001890)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein secretion (GO:0050714)|response to hormone (GO:0009725)|response to hypoxia (GO:0001666)|RNA phosphodiester bond hydrolysis (GO:0090501)|rRNA transcription (GO:0009303)	angiogenin-PRI complex (GO:0032311)|basal lamina (GO:0005605)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)	actin binding (GO:0003779)|copper ion binding (GO:0005507)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|heparin binding (GO:0008201)|peptide binding (GO:0042277)|receptor binding (GO:0005102)|ribonuclease activity (GO:0004540)|rRNA binding (GO:0019843)	p.H89Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)	5	all_cancers(95;0.00387)	all_cancers(140;0.196)|all_epithelial(140;0.156)	Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	OV - Ovarian serous cystadenocarcinoma(311;3.25e-17)|GBM - Glioblastoma multiforme(265;5.56e-07)		TGGAAACCCTCACAGAGAAAA	0.507																																						ENST00000336811.6																			1	Substitution - Missense(1)	p.H89Y(1)	prostate(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)	5						c.(265-267)Cac>Tac		angiogenin, ribonuclease, RNase A family, 5							106.0	98.0	100.0					14																	21161988		2203	4300	6503	SO:0001583	missense	283				actin filament polymerization|activation of phospholipase A2 activity|activation of phospholipase C activity|activation of protein kinase B activity|angiogenesis|cell communication|cell death|cell migration|diacylglycerol biosynthetic process|homeostatic process|negative regulation of smooth muscle cell proliferation|negative regulation of translation|oocyte maturation|ovarian follicle development|placenta development|positive regulation of endothelial cell proliferation|positive regulation of phosphorylation|positive regulation of protein secretion|response to hormone stimulus|response to hypoxia|rRNA transcription	angiogenin-PRI complex|basal lamina|extracellular space|growth cone|neuronal cell body|nucleolus	actin binding|copper ion binding|heparin binding|pancreatic ribonuclease activity|peptide binding|receptor binding|rRNA binding	g.chr14:21161988C>T		CCDS9554.1	14q11.1-q11.2	2014-09-17			ENSG00000214274	ENSG00000214274	3.1.27.-	"""Ribonucleases, RNase A"""	483	protein-coding gene	gene with protein product		105850				1978563	Standard	NM_001145		Approved	RNASE5	uc001vxw.4	P03950	OTTHUMG00000029576	ENST00000336811.6:c.265C>T	14.37:g.21161988C>T	ENSP00000336762:p.His89Tyr					AL163636.6_ENST00000553909.1_RNA|RNASE4_ENST00000304704.4_Intron|RP11-903H12.3_ENST00000554286.1_lincRNA|RNASE4_ENST00000397995.2_Intron|RNASE4_ENST00000555835.1_Intron|ANG_ENST00000397990.4_Missense_Mutation_p.H89Y|RNASE4_ENST00000555597.1_Intron|ANG_ENST00000554073.1_Intron	p.H89Y	NM_001145.4	NP_001136.1	P03950	ANGI_HUMAN	Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	OV - Ovarian serous cystadenocarcinoma(311;3.25e-17)|GBM - Glioblastoma multiforme(265;5.56e-07)	2	865	+	all_cancers(95;0.00387)	all_cancers(140;0.196)|all_epithelial(140;0.156)	89					Q05CV1|Q53X86|Q6P5T2|Q8WXE7	Missense_Mutation	SNP	ENST00000336811.6	37	c.265C>T	CCDS9554.1	.	.	.	.	.	.	.	.	.	.	C	0.035	-1.311889	0.01342	.	.	ENSG00000214274	ENST00000336811;ENST00000397990	D;D	0.94046	-3.34;-3.34	4.97	-6.84	0.01687	Ribonuclease A, domain (4);	4.254030	0.01975	N	0.044418	T	0.62490	0.2432	N	0.00010	-3.02	0.19575	N	0.999966	B	0.10296	0.003	B	0.01281	0.0	T	0.72683	-0.4219	10	0.02654	T	1	.	10.8641	0.46844	0.0:0.682:0.1202:0.1978	.	89	P03950	ANGI_HUMAN	Y	89	ENSP00000336762:H89Y;ENSP00000381077:H89Y	ENSP00000336762:H89Y	H	+	1	0	ANG	20231828	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.784000	0.04633	-1.042000	0.03262	-1.076000	0.02234	CAC		0.507	ANG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073731.3	NM_001097577		4	65	0	0	0	0.014758	0	4	65				
MYH4	4622	broad.mit.edu	37	17	10350461	10350461	+	Missense_Mutation	SNP	G	G	A	rs149007526		TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr17:10350461G>A	ENST00000255381.2	-	35	5148	c.5038C>T	c.(5038-5040)Cgc>Tgc	p.R1680C	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1680					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.R1680C(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTAGCTCTGCGCTCAACCATT	0.502													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20016	0.0		0.0	False		,,,				2504	0.0					ENST00000255381.2																			1	Substitution - Missense(1)	p.R1680C(1)	prostate(1)	NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(5038-5040)Cgc>Tgc		myosin, heavy chain 4, skeletal muscle							155.0	124.0	135.0					17																	10350461		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10350461G>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.5038C>T	17.37:g.10350461G>A	ENSP00000255381:p.Arg1680Cys					CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.R1680C	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			35	5148	-			1680						Missense_Mutation	SNP	ENST00000255381.2	37	c.5038C>T	CCDS11154.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	20.2	3.947991	0.73787	.	.	ENSG00000141048	ENST00000255381	T	0.79653	-1.29	5.29	4.26	0.50523	Myosin tail (1);	0.000000	0.33712	U	0.004633	D	0.92374	0.7580	H	0.96333	3.805	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.94021	0.7292	10	0.87932	D	0	.	13.7021	0.62616	0.0:0.0:0.7363:0.2636	.	1680	Q9Y623	MYH4_HUMAN	C	1680	ENSP00000255381:R1680C	ENSP00000255381:R1680C	R	-	1	0	MYH4	10291186	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.975000	0.40569	2.646000	0.89796	0.563000	0.77884	CGC		0.502	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		39	53	0	0	0	0.080422	0	39	53				
KDM5A	5927	broad.mit.edu	37	12	417035	417035	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr12:417035C>A	ENST00000399788.2	-	23	3877	c.3515G>T	c.(3514-3516)gGg>gTg	p.G1172V	KDM5A_ENST00000382815.4_Missense_Mutation_p.G1172V	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1172					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.G1172V(2)		NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TAGCATAAACCCACTGGCTGT	0.463			T	NUP98	AML																																	ENST00000399788.2				Dom	yes		12	12p11	5927	T	"""lysine (K)-specific demethylase 5A, JARID1A"""			L	NUP98		AML		2	Substitution - Missense(2)	p.G1172V(2)	prostate(2)	NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						c.(3514-3516)gGg>gTg		lysine (K)-specific demethylase 5A							134.0	133.0	133.0					12																	417035		1994	4163	6157	SO:0001583	missense	5927				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:417035C>A		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.3515G>T	12.37:g.417035C>A	ENSP00000382688:p.Gly1172Val					KDM5A_ENST00000382815.4_Missense_Mutation_p.G1172V	p.G1172V	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN			23	3877	-			1172					A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	ENST00000399788.2	37	c.3515G>T	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.531646	0.85706	.	.	ENSG00000073614	ENST00000399788;ENST00000382815	D;D	0.88124	-2.34;-2.34	5.52	5.52	0.82312	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.95053	0.8398	M	0.91972	3.26	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.70487	0.969;0.958	D	0.95543	0.8614	10	0.87932	D	0	-21.5163	19.7845	0.96430	0.0:1.0:0.0:0.0	.	1172;1172	P29375;P29375-2	KDM5A_HUMAN;.	V	1172	ENSP00000382688:G1172V;ENSP00000372265:G1172V	ENSP00000372265:G1172V	G	-	2	0	KDM5A	287296	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.744000	0.94065	0.585000	0.79938	GGG		0.463	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		11	137	1	0	6.40141e-05	0.080935	7.5653e-05	11	137				
GRK1	6011	broad.mit.edu	37	13	114324084	114324084	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr13:114324084C>G	ENST00000335678.6	+	2	1014	c.782C>G	c.(781-783)gCc>gGc	p.A261G		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	261	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of apoptotic process (GO:0043066)|photoreceptor cell morphogenesis (GO:0008594)|phototransduction, visible light (GO:0007603)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)|rhodopsin kinase activity (GO:0050254)	p.A261G(1)		ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			GAAACCAAAGCCGACCTCTGT	0.557																																						ENST00000335678.6																			1	Substitution - Missense(1)	p.A261G(1)	prostate(1)	ovary(2)	2						c.(781-783)gCc>gGc		G protein-coupled receptor kinase 1							154.0	156.0	156.0					13																	114324084		2047	4193	6240	SO:0001583	missense	6011				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity	g.chr13:114324084C>G			13q34	2013-09-02	2004-03-23	2004-03-24	ENSG00000185974	ENSG00000185974	2.7.11.14		10013	protein-coding gene	gene with protein product		180381	"""rhodopsin kinase"""	RHOK		8812493, 15057823	Standard	NM_002929		Approved	GPRK1, RK	uc010tkf.2	Q15835	OTTHUMG00000185528	ENST00000335678.6:c.782C>G	13.37:g.114324084C>G	ENSP00000334876:p.Ala261Gly						p.A261G	NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	all cancers(43;0.234)		2	1014	+	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	261			Protein kinase.		Q53X14	Missense_Mutation	SNP	ENST00000335678.6	37	c.782C>G		.	.	.	.	.	.	.	.	.	.	c	11.09	1.537822	0.27475	.	.	ENSG00000185974	ENST00000335678	T	0.21543	2.0	4.36	3.51	0.40186	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.296644	0.36338	N	0.002644	T	0.15609	0.0376	.	.	.	0.25898	N	0.983395	B	0.19073	0.033	B	0.22880	0.042	T	0.17992	-1.0351	9	0.72032	D	0.01	-9.4033	5.6898	0.17823	0.1925:0.7037:0.0:0.1038	.	261	Q15835	RK_HUMAN	G	261	ENSP00000334876:A261G	ENSP00000334876:A261G	A	+	2	0	GRK1	113372085	0.005000	0.15991	0.280000	0.24747	0.338000	0.28826	0.741000	0.26202	0.945000	0.37605	0.511000	0.50034	GCC		0.557	GRK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470655.1	NM_002929		4	154	0	0	0	0.014758	0	4	154				
SLC6A4	6532	broad.mit.edu	37	17	28548700	28548700	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr17:28548700T>G	ENST00000401766.2	-	2	789	c.277A>C	c.(277-279)Att>Ctt	p.I93L	SLC6A4_ENST00000261707.3_Missense_Mutation_p.I93L			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	93					brain morphogenesis (GO:0048854)|cellular response to cGMP (GO:0071321)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|memory (GO:0007613)|monoamine transport (GO:0015844)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of organ growth (GO:0046621)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|serotonin transport (GO:0006837)|serotonin uptake (GO:0051610)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|thalamus development (GO:0021794)|vasoconstriction (GO:0042310)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|cocaine binding (GO:0019811)|monoamine transmembrane transporter activity (GO:0008504)|Rab GTPase binding (GO:0017137)|serotonin transmembrane transporter activity (GO:0015222)|serotonin:sodium symporter activity (GO:0005335)	p.I93L(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexfenfluramine(DB01191)|Dexmethylphenidate(DB06701)|Dextromethorphan(DB00514)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Levomilnacipran(DB08918)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Pethidine(DB00454)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)	GCATAGCCAATCACTGAGAGA	0.562																																						ENST00000401766.2																			1	Substitution - Missense(1)	p.I93L(1)	prostate(1)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25						c.(277-279)Att>Ctt		solute carrier family 6 (neurotransmitter transporter), member 4	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)						205.0	183.0	190.0					17																	28548700		2203	4300	6503	SO:0001583	missense	6532				response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity	g.chr17:28548700T>G	L05568	CCDS11256.1	17q11.2	2014-01-30	2013-07-19		ENSG00000108576	ENSG00000108576		"""Solute carriers"""	11050	protein-coding gene	gene with protein product	"""serotonin transporter 1"""	182138	"""solute carrier family 6 (neurotransmitter transporter, serotonin), member 4"", ""5-hydroxytryptamine (serotonin) transporter"", ""obsessive-compulsive disorder 1"""	HTT, OCD1		7681602, 19806148	Standard	NM_001045		Approved	5-HTT, SERT1	uc002hey.5	P31645	OTTHUMG00000132751	ENST00000401766.2:c.277A>C	17.37:g.28548700T>G	ENSP00000385822:p.Ile93Leu					SLC6A4_ENST00000261707.3_Missense_Mutation_p.I93L	p.I93L			P31645	SC6A4_HUMAN			2	789	-			93					Q5EE02	Missense_Mutation	SNP	ENST00000401766.2	37	c.277A>C	CCDS11256.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.394810	0.83011	.	.	ENSG00000108576	ENST00000394821;ENST00000401766;ENST00000261707	T;T	0.77098	-1.07;-1.07	5.74	4.66	0.58398	.	0.043588	0.85682	D	0.000000	T	0.80854	0.4703	M	0.66297	2.02	0.80722	D	1	P	0.40534	0.72	P	0.48524	0.58	T	0.80867	-0.1190	10	0.66056	D	0.02	.	10.8641	0.46844	0.0:0.0739:0.0:0.9261	.	93	P31645	SC6A4_HUMAN	L	135;93;93	ENSP00000385822:I93L;ENSP00000261707:I93L	ENSP00000261707:I93L	I	-	1	0	SLC6A4	25572826	1.000000	0.71417	0.996000	0.52242	0.967000	0.64934	5.091000	0.64505	0.991000	0.38814	0.533000	0.62120	ATT		0.562	SLC6A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256115.3	NM_001045		10	118	0	0	0	0.080935	0	10	118				
USP2	9099	broad.mit.edu	37	11	119243942	119243942	+	Silent	SNP	G	G	A			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr11:119243942G>A	ENST00000260187.2	-	2	543	c.249C>T	c.(247-249)ccC>ccT	p.P83P	USP2_ENST00000455332.2_Intron|RP11-334E6.3_ENST00000530918.2_RNA	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	83	Necessary for interaction with MDM4.				cell cycle (GO:0007049)|muscle organ development (GO:0007517)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue development (GO:0048643)|protein deubiquitination (GO:0016579)|protein stabilization (GO:0050821)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell cortex (GO:0005938)|centrosome (GO:0005813)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cyclin binding (GO:0030332)|cysteine-type endopeptidase activity (GO:0004197)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.P83P(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		CAGTGATGTCGGGTCTCAGCA	0.667																																						ENST00000260187.2																			2	Substitution - coding silent(2)	p.P83P(2)	prostate(2)	breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24						c.(247-249)ccC>ccT		ubiquitin specific peptidase 2							55.0	63.0	60.0					11																	119243942		2199	4295	6494	SO:0001819	synonymous_variant	9099				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity	g.chr11:119243942G>A	AF079564	CCDS8422.1, CCDS8423.1, CCDS58189.1	11q23.3	2008-02-05	2005-08-08			ENSG00000036672		"""Ubiquitin-specific peptidases"""	12618	protein-coding gene	gene with protein product		604725	"""ubiquitin specific protease 2"""			12838346	Standard	NM_004205		Approved	UBP41	uc001pwm.4	O75604		ENST00000260187.2:c.249C>T	11.37:g.119243942G>A						RP11-334E6.3_ENST00000530918.2_RNA|USP2_ENST00000455332.2_Intron	p.P83P	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)	2	543	-		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)	83			Necessary for interaction with MDM4.		B0YJB8|E9PPM2|Q8IUM2|Q8IW04|Q96MB9|Q9BQ21	Silent	SNP	ENST00000260187.2	37	c.249C>T	CCDS8422.1																																																																																				0.667	USP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388361.2	NM_171997		6	150	0	0	0	0.021553	0	6	150				
NTNG1	22854	broad.mit.edu	37	1	107691217	107691217	+	Start_Codon_SNP	SNP	T	T	C			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr1:107691217T>C	ENST00000370068.1	+	2	848	c.2T>C	c.(1-3)aTg>aCg	p.M1T	NTNG1_ENST00000370065.1_Start_Codon_SNP_p.M1T|NTNG1_ENST00000370072.3_Start_Codon_SNP_p.M1T|NTNG1_ENST00000542803.1_Start_Codon_SNP_p.M1T|NTNG1_ENST00000370061.3_Start_Codon_SNP_p.M1T|NTNG1_ENST00000370074.4_Start_Codon_SNP_p.M1T|NTNG1_ENST00000370066.1_Start_Codon_SNP_p.M1T|NTNG1_ENST00000370071.2_Start_Codon_SNP_p.M1T|NTNG1_ENST00000370067.1_Start_Codon_SNP_p.M1T|NTNG1_ENST00000370073.2_Start_Codon_SNP_p.M1T|NTNG1_ENST00000370070.2_Start_Codon_SNP_p.M1T			Q9Y2I2	NTNG1_HUMAN	netrin G1	1					axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)		p.M1T(2)		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)		AATTTAGAGATGTATTTGTCA	0.378																																						ENST00000370067.1																			2	Substitution - Missense(2)	p.M1T(2)	prostate(2)	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.(1-3)aTg>aCg		netrin G1							143.0	134.0	137.0					1																	107691217		2203	4300	6503	SO:0001582	initiator_codon_variant	22854				axonogenesis	anchored to plasma membrane	protein binding	g.chr1:107691217T>C	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.2T>C	1.37:g.107691217T>C	ENSP00000359085:p.Met1Thr					NTNG1_ENST00000370068.1_Start_Codon_SNP_p.M1T|NTNG1_ENST00000370061.3_Start_Codon_SNP_p.M1T|NTNG1_ENST00000370073.2_Start_Codon_SNP_p.M1T|NTNG1_ENST00000370070.2_Start_Codon_SNP_p.M1T|NTNG1_ENST00000370065.1_Start_Codon_SNP_p.M1T|NTNG1_ENST00000370066.1_Start_Codon_SNP_p.M1T|NTNG1_ENST00000542803.1_Start_Codon_SNP_p.M1T|NTNG1_ENST00000370072.3_Start_Codon_SNP_p.M1T|NTNG1_ENST00000370071.2_Start_Codon_SNP_p.M1T|NTNG1_ENST00000370074.4_Start_Codon_SNP_p.M1T	p.M1T			Q9Y2I2	NTNG1_HUMAN		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)	2	629	+		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)	1					Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Translation_Start_Site	SNP	ENST00000370068.1	37	c.2T>C	CCDS44180.1	.	.	.	.	.	.	.	.	.	.	T	18.96	3.734751	0.69189	.	.	ENSG00000162631	ENST00000370076;ENST00000370073;ENST00000370071;ENST00000542803;ENST00000370061;ENST00000370072;ENST00000370070;ENST00000535584;ENST00000370074;ENST00000370068;ENST00000294649;ENST00000370067;ENST00000370066;ENST00000370065	T;T;T;T;T;T;T;T;T;T;T	0.73258	0.85;-0.33;0.8;0.2;0.15;-0.49;-0.73;0.85;-0.49;-0.33;0.23	4.97	4.97	0.65823	.	0.000000	0.64402	D	0.000012	T	0.79930	0.4531	.	.	.	0.80722	D	1	D;D;D;P;D	0.60160	0.973;0.987;0.984;0.597;0.96	P;D;D;P;P	0.66716	0.885;0.942;0.946;0.774;0.888	D	0.83604	0.0130	9	0.87932	D	0	.	14.9367	0.70960	0.0:0.0:0.0:1.0	.	1;1;1;1;1	B4DKF0;Q9Y2I2;Q9Y2I2-4;Q9Y2I2-2;Q9Y2I2-1	.;NTNG1_HUMAN;.;.;.	T	1	ENSP00000359090:M1T;ENSP00000359088:M1T;ENSP00000440561:M1T;ENSP00000359078:M1T;ENSP00000359089:M1T;ENSP00000359087:M1T;ENSP00000359091:M1T;ENSP00000359085:M1T;ENSP00000359084:M1T;ENSP00000359083:M1T;ENSP00000359082:M1T	ENSP00000294649:M1T	M	+	2	0	NTNG1	107492740	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.824000	0.75288	1.985000	0.57927	0.402000	0.26972	ATG		0.378	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000030340.1	NM_014917	Missense_Mutation	3	106	0	0	0	0.115264	0	3	106				
MGAM	8972	broad.mit.edu	37	7	141752697	141752697	+	Silent	SNP	C	C	T	rs375312122		TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr7:141752697C>T	ENST00000549489.2	+	26	3167	c.3072C>T	c.(3070-3072)tcC>tcT	p.S1024S	MGAM_ENST00000475668.2_Silent_p.S1024S	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1024					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.S1024S(4)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TAAAGTCTTCCGTTTATGCCA	0.468																																						ENST00000475668.2																			4	Substitution - coding silent(4)	p.S1024S(4)	prostate(4)	cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(3070-3072)tcC>tcT		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						133.0	124.0	127.0					7																	141752697		1950	4148	6098	SO:0001819	synonymous_variant	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141752697C>T	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.3072C>T	7.37:g.141752697C>T						MGAM_ENST00000549489.2_Silent_p.S1024S	p.S1024S			O43451	MGA_HUMAN			26	3126	+	Melanoma(164;0.0272)		1024					Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000549489.2	37	c.3072C>T	CCDS47727.1																																																																																				0.468	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			7	112	0	0	0	0.038147	0	7	112				
FFAR4	338557	broad.mit.edu	37	10	95326921	95326921	+	Silent	SNP	G	G	T			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr10:95326921G>T	ENST00000371483.4	+	1	500	c.444G>T	c.(442-444)cgG>cgT	p.R148R	FFAR4_ENST00000371481.4_Silent_p.R148R|FFAR4_ENST00000604414.1_Silent_p.R148R	NM_181745.3	NP_859529.2	Q5NUL3	FFAR4_HUMAN	free fatty acid receptor 4	148					hormone secretion (GO:0046879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of inflammatory response (GO:0050728)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of glucose transport (GO:0010827)	endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fatty acid binding (GO:0005504)|taste receptor activity (GO:0008527)	p.R148R(1)									GCGGCGTGCGGGGTCCTGGGC	0.701																																						ENST00000371483.4																			1	Substitution - coding silent(1)	p.R148R(1)	prostate(1)								c.(442-444)cgG>cgT		free fatty acid receptor 4							12.0	13.0	13.0					10																	95326921		2188	4246	6434	SO:0001819	synonymous_variant	338557							g.chr10:95326921G>T		CCDS31248.1, CCDS55720.1	10q23.33	2012-11-16	2012-11-16	2012-11-16	ENSG00000186188	ENSG00000186188		"""GPCR / Class A : Fatty acid receptors"""	19061	protein-coding gene	gene with protein product		609044	"""G protein-coupled receptor 129"", ""G protein-coupled receptor 120"", ""omega-3 fatty acid receptor 1"""	GPR129, GPR120, O3FAR1		20471368, 19723586, 15619630, 20813258	Standard	NM_181745		Approved	PGR4	uc010qnt.2	Q5NUL3	OTTHUMG00000034409	ENST00000371483.4:c.444G>T	10.37:g.95326921G>T						FFAR4_ENST00000371481.4_Silent_p.R148R|FFAR4_ENST00000604414.1_Silent_p.R148R	p.R148R	NM_181745.3	NP_859529.2					1	500	+								Q495H1|Q5VY25|Q5VY26|Q7Z605|Q86SM7	Silent	SNP	ENST00000371483.4	37	c.444G>T	CCDS31248.1																																																																																				0.701	FFAR4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000083179.1	NM_181745		4	14	1	0	1.23904e-05	0.014758	1.53405e-05	4	14				
BEND5	79656	broad.mit.edu	37	1	49201966	49201967	+	Frame_Shift_Ins	INS	-	-	T			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr1:49201966_49201967insT	ENST00000371833.3	-	5	1138_1139	c.1052_1053insA	c.(1051-1053)aagfs	p.K351fs	BEND5_ENST00000476096.1_Intron|AGBL4_ENST00000371838.1_Intron|AGBL4_ENST00000371839.1_Intron	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	351	BEN. {ECO:0000255|PROSITE- ProRule:PRU00784}.					Golgi apparatus (GO:0005794)				large_intestine(5)|lung(2)|skin(1)	8						CTGCATCTTTCTTTTTTTTTGT	0.46																																						ENST00000371833.3																			0				large_intestine(5)|lung(2)|skin(1)	8						c.(1051-1053)aaafs		BEN domain containing 5																																				SO:0001589	frameshift_variant	79656							g.chr1:49201966_49201967insT	BC007932	CCDS552.2	1p33	2012-11-22	2008-10-03	2008-10-03	ENSG00000162373	ENSG00000162373		"""BEN domain containing"""	25668	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 165"""	C1orf165		12477932	Standard	NM_024603		Approved	FLJ11588	uc001crx.4	Q7L4P6	OTTHUMG00000008153	ENST00000371833.3:c.1053dupA	1.37:g.49201975_49201975dupT	ENSP00000360899:p.Lys351fs					AGBL4_ENST00000371838.1_Intron|AGBL4_ENST00000371839.1_Intron|BEND5_ENST00000476096.1_Intron	p.K351fs	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN			5	1138_1139	-			351			BEN.		D3DQ27|Q96A62|Q9HAI3	Frame_Shift_Ins	INS	ENST00000371833.3	37	c.1052_1053insA	CCDS552.2																																																																																				0.460	BEND5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022323.1	NM_024603		8	161						8	161	---	---	---	---
TMCC2	9911	broad.mit.edu	37	1	205238670	205238670	+	Frame_Shift_Del	DEL	A	A	-			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr1:205238670delA	ENST00000358024.3	+	3	1729	c.1340delA	c.(1339-1341)gacfs	p.D447fs	TMCC2_ENST00000329800.7_Frame_Shift_Del_p.D207fs|TMCC2_ENST00000330675.7_Frame_Shift_Del_p.D222fs|TMCC2_ENST00000545499.1_Frame_Shift_Del_p.D369fs|TMCC2_ENST00000495538.1_3'UTR	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	447						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CACCTGAAGGACCCCCTGGAA	0.642																																						ENST00000358024.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20						c.(1339-1341)gcfs		transmembrane and coiled-coil domain family 2							45.0	52.0	50.0					1																	205238670		2203	4300	6503	SO:0001589	frameshift_variant	9911					integral to membrane	protein binding	g.chr1:205238670delA	AB001596	CCDS30984.1, CCDS55676.1, CCDS73010.1	1q32.1	2008-02-05	2005-07-13		ENSG00000133069	ENSG00000133069		"""Transmembrane and coiled-coil domain containing"""	24239	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 2"""			9455484	Standard	NM_014858		Approved	HUCEP11, FLJ38497	uc021pia.1	O75069	OTTHUMG00000037195	ENST00000358024.3:c.1340delA	1.37:g.205238670delA	ENSP00000350718:p.Asp447fs					TMCC2_ENST00000545499.1_Frame_Shift_Del_p.D369fs|TMCC2_ENST00000329800.7_Frame_Shift_Del_p.D207fs|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000330675.7_Frame_Shift_Del_p.D222fs	p.D447fs	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		3	1729	+	Breast(84;0.0871)		447					A2RRH3|B7Z1P7|Q6ZN09	Frame_Shift_Del	DEL	ENST00000358024.3	37	c.1340delA	CCDS30984.1																																																																																				0.642	TMCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090383.1	NM_014858		7	104						7	104	---	---	---	---
FAM177A1P1	728710	broad.mit.edu	37	4	99877753	99877753	+	RNA	DEL	A	A	-	rs33952764|rs373692463|rs59266273	byFrequency	TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr4:99877753delA	ENST00000583654.1	+	0	237																											actctgtctcaaaaaaaaaaa	0.448													|||unknown(HR)	2780	0.555112	0.6649	0.4769	5008	,	,		14742	0.6627		0.4404	False		,,,				2504	0.4693					ENST00000583654.1																			0																																																			0							g.chr4:99877753delA																													4.37:g.99877753delA														0	237	+									RNA	DEL	ENST00000583654.1	37																																																																																						0.448	RP11-571L19.7-001	KNOWN	non_canonical_other|not_organism_supported|basic	antisense	antisense	OTTHUMT00000441787.1			3	4						3	4	---	---	---	---
SUDS3P1	285647	broad.mit.edu	37	5	177398373	177398396	+	RNA	DEL	AGGACGAAGAGCTGGAGAGCGCCA	AGGACGAAGAGCTGGAGAGCGCCA	-	rs548039666|rs70994948|rs71585660|rs568597025|rs535774316	byFrequency	TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr5:177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA	ENST00000511650.1	+	0	145																											GTCCCCGGGGAGGACGAAGAGCTGGAGAGCGCCAAGGACGACGA	0.683														1220	0.24361	0.2678	0.3372	5008	,	,		15351	0.1548		0.2674	False		,,,				2504	0.2117					ENST00000511650.1																			0																																																			0							g.chr5:177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA																													5.37:g.177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA														0	145	+									RNA	DEL	ENST00000511650.1	37																																																																																						0.683	RP11-1252I4.2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000373553.1			2	4						2	4	---	---	---	---
SLC30A4	7782	broad.mit.edu	37	15	45814243	45814246	+	Frame_Shift_Del	DEL	TCTC	TCTC	-			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr15:45814243_45814246delTCTC	ENST00000261867.4	-	2	621_624	c.307_310delGAGA	c.(307-312)gagatafs	p.EI103fs	SLC30A4_ENST00000559667.1_5'UTR|HMGN2P46_ENST00000409454.1_RNA	NM_013309.4	NP_037441.2	O14863	ZNT4_HUMAN	solute carrier family 30 (zinc transporter), member 4	103					regulation of sequestering of zinc ion (GO:0061088)|response to toxic substance (GO:0009636)|zinc ion homeostasis (GO:0055069)|zinc ion transmembrane transport (GO:0071577)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		TGCTTCAGTATCTCTCTCTGTTTG	0.475																																						ENST00000261867.4																			0				endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15						c.(307-312)tafs		solute carrier family 30 (zinc transporter), member 4																																				SO:0001589	frameshift_variant	7782				regulation of sequestering of zinc ion|response to toxin	endosome membrane|integral to membrane|late endosome	zinc ion transmembrane transporter activity	g.chr15:45814243_45814246delTCTC		CCDS10125.1	15q21.1	2013-05-22			ENSG00000104154	ENSG00000104154		"""Solute carriers"""	11015	protein-coding gene	gene with protein product		602095		ZNT4			Standard	NM_013309		Approved		uc001zvj.3	O14863	OTTHUMG00000131439	ENST00000261867.4:c.307_310delGAGA	15.37:g.45814247_45814250delTCTC	ENSP00000261867:p.Glu103fs					HMGN2P46_ENST00000409454.1_RNA|SLC30A4_ENST00000559667.1_5'UTR	p.EI103fs	NM_013309.4	NP_037441.2	O14863	ZNT4_HUMAN		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)	2	621_624	-		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	103					Q8TC39	Frame_Shift_Del	DEL	ENST00000261867.4	37	c.307_310delGAGA	CCDS10125.1																																																																																				0.475	SLC30A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254236.1			30	159						30	159	---	---	---	---
