#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
PLD2	5338	broad.mit.edu	37	17	4719165	4719165	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr17:4719165G>A	ENST00000263088.6	+	14	1522	c.1391G>A	c.(1390-1392)cGc>cAc	p.R464H	PLD2_ENST00000572940.1_Missense_Mutation_p.R464H	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	464	Catalytic.|PLD phosphodiesterase 1. {ECO:0000255|PROSITE-ProRule:PRU00153}.				cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	GCCTATGGCCGCTGGGATGAC	0.597											OREG0024105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002fzc.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(1390-1392)cGc>cAc		Homo sapiens phospholipase D2 (PLD2), transcript variant 1, mRNA.	Choline(DB00122)						186.0	149.0	162.0					17																	4719165		2203	4300	6503	SO:0001583	missense	5338				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr17:4719165G>A	AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	3.1.4.4		9068	protein-coding gene	gene with protein product	"""choline phosphatase 2"""	602384				9858823, 9582313	Standard	NM_002663		Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.1391G>A	17.37:g.4719165G>A	ENSP00000263088:p.Arg464His		Somatic	OREG0024105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	621	PLD2_uc010vsj.2_Missense_Mutation_p.R321H|PLD2_uc002fzd.3_Missense_Mutation_p.R464H	p.R464H	NM_002663	NP_002654	WXS	Illumina GAIIx	Phase_I	O14939	PLD2_HUMAN			13	1517	+			464			Catalytic.|PLD phosphodiesterase 1.		I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Missense_Mutation	SNP	ENST00000263088.6	37	c.1391G>A	CCDS11057.1	.	.	.	.	.	.	.	.	.	.	G	35	5.597513	0.96602	.	.	ENSG00000129219	ENST00000263088	T	0.31510	1.49	5.58	5.58	0.84498	Phospholipase D/Transphosphatidylase (3);	0.000000	0.85682	D	0.000000	T	0.72581	0.3478	H	0.98466	4.24	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.981;0.999	D	0.83892	0.0285	10	0.87932	D	0	-11.2461	17.039	0.86483	0.0:0.0:1.0:0.0	.	321;464;464	B7Z905;O14939-2;O14939	.;.;PLD2_HUMAN	H	464	ENSP00000263088:R464H	ENSP00000263088:R464H	R	+	2	0	PLD2	4666131	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.344000	0.97050	2.619000	0.88677	0.655000	0.94253	CGC		0.597	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207561.3	NM_002663		4	140	0	0	0	1	0	4	140				
LAMP3	27074	broad.mit.edu	37	3	182841901	182841901	+	Missense_Mutation	SNP	T	T	A	rs182955501		TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr3:182841901T>A	ENST00000265598.3	-	6	1474	c.1219A>T	c.(1219-1221)Agg>Tgg	p.R407W	LAMP3_ENST00000466939.1_Missense_Mutation_p.R383W	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	407					cell proliferation (GO:0008283)|immune system process (GO:0002376)	alveolar lamellar body membrane (GO:0097233)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			GATTGACACCTTAGGCGGATT	0.458																																						uc003flh.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28						c.(1219-1221)Agg>Tgg		Homo sapiens lysosomal-associated membrane protein 3 (LAMP3), mRNA.							137.0	129.0	131.0					3																	182841901		2203	4300	6503	SO:0001583	missense	27074				cell proliferation	integral to membrane|lysosomal membrane		g.chr3:182841901T>A	AB013924	CCDS3242.1	3q26.3-q27	2011-11-24			ENSG00000078081	ENSG00000078081		"""CD molecules"""	14582	protein-coding gene	gene with protein product		605883				9721848	Standard	NM_014398		Approved	LAMP, TSC403, DC-LAMP, DCLAMP, CD208	uc003flh.4	Q9UQV4	OTTHUMG00000158387	ENST00000265598.3:c.1219A>T	3.37:g.182841901T>A	ENSP00000265598:p.Arg407Trp		Somatic					p.R407W	NM_014398	NP_055213	WXS	Illumina GAIIx	Phase_I	Q9UQV4	LAMP3_HUMAN	all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)		5	1443	-	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		407					D3DNS4|O94781|Q8NEC8	Missense_Mutation	SNP	ENST00000265598.3	37	c.1219A>T	CCDS3242.1	.	.	.	.	.	.	.	.	.	.	T	19.33	3.807035	0.70797	.	.	ENSG00000078081	ENST00000265598;ENST00000466939	T;T	0.46063	0.88;0.88	5.92	5.92	0.95590	.	0.300884	0.28754	N	0.014258	T	0.63604	0.2525	M	0.74881	2.28	0.09310	N	1	D	0.65815	0.995	D	0.74023	0.982	T	0.61108	-0.7129	10	0.87932	D	0	-4.9155	12.7552	0.57331	0.0:0.0:0.0:1.0	.	407	Q9UQV4	LAMP3_HUMAN	W	407;383	ENSP00000265598:R407W;ENSP00000418912:R383W	ENSP00000265598:R407W	R	-	1	2	LAMP3	184324595	0.003000	0.15002	0.036000	0.18154	0.732000	0.41865	1.137000	0.31479	2.270000	0.75569	0.459000	0.35465	AGG		0.458	LAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350863.1			5	145	0	0	0	1	0	5	145				
RPL12	6136	broad.mit.edu	37	9	130213590	130213590	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr9:130213590G>A	ENST00000361436.5	-	1	94	c.7C>T	c.(7-9)Ccg>Tcg	p.P3S	RPL12_ENST00000497322.1_5'UTR|RPL12_ENST00000536368.1_Missense_Mutation_p.P3S|SNORA65_ENST00000364432.1_RNA|LRSAM1_ENST00000323301.4_5'Flank|LRSAM1_ENST00000300417.6_5'Flank|LRSAM1_ENST00000373322.1_5'Flank|LRSAM1_ENST00000373324.4_5'Flank	NM_000976.3	NP_000967.1	P30050	RL12_HUMAN	ribosomal protein L12	3					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)	4						TCGAACTTCGGCGGCATGGTG	0.657																																						uc004bqy.2																			0		p.P3P(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(7-9)Ccg>Tcg		Homo sapiens ribosomal protein L12 (RPL12), mRNA.							30.0	33.0	32.0					9																	130213590		2199	4296	6495	SO:0001583	missense	6136				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome	g.chr9:130213590G>A		CCDS6872.1	9q34	2011-04-06			ENSG00000197958	ENSG00000197958		"""L ribosomal proteins"""	10302	protein-coding gene	gene with protein product		180475				8441690	Standard	NM_000976		Approved	L12	uc004bqy.2	P30050	OTTHUMG00000020704	ENST00000361436.5:c.7C>T	9.37:g.130213590G>A	ENSP00000354739:p.Pro3Ser		Somatic				RPL12_uc004bqz.2_Missense_Mutation_p.P3S|SNORA65_uc004bra.1_5'Flank|LRSAM1_uc004brb.2_5'Flank|LRSAM1_uc010mxk.2_5'Flank|LRSAM1_uc004brc.2_5'Flank|LRSAM1_uc004brd.2_5'Flank	p.P3S	NM_000976	NP_000967	WXS	Illumina GAIIx	Phase_I	P30050	RL12_HUMAN			0	122	-			3					Q5VVV2|Q6PB27	Missense_Mutation	SNP	ENST00000361436.5	37	c.7C>T	CCDS6872.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.481989	0.84747	.	.	ENSG00000197958	ENST00000361436;ENST00000536368	.	.	.	5.58	4.67	0.58626	Ribosomal protein L11, N-terminal (2);	0.000000	0.85682	U	0.000000	T	0.76955	0.4060	M	0.92077	3.27	0.58432	D	0.999999	B;B	0.22003	0.063;0.034	B;B	0.33454	0.164;0.057	T	0.77365	-0.2615	9	0.56958	D	0.05	0.0669	13.4653	0.61249	0.0:0.0:0.842:0.158	.	3;3	P30050-2;P30050	.;RL12_HUMAN	S	3	.	ENSP00000354739:P3S	P	-	1	0	RPL12	129253411	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	9.469000	0.97679	1.333000	0.45449	0.561000	0.74099	CCG		0.657	RPL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054189.1			6	67	0	0	0	1	0	6	67				
BAI3	577	broad.mit.edu	37	6	70034893	70034893	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr6:70034893C>T	ENST00000370598.1	+	21	3765	c.2944C>T	c.(2944-2946)Cgc>Tgc	p.R982C	BAI3_ENST00000238918.8_Missense_Mutation_p.R188C	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	982					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TATAAGAAAACGCTTTTTGTG	0.403																																						uc010kak.3																			0				NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(2944-2946)Cgc>Tgc		Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.							192.0	184.0	187.0					6																	70034893		2203	4300	6503	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:70034893C>T	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.2944C>T	6.37:g.70034893C>T	ENSP00000359630:p.Arg982Cys		Somatic				BAI3_uc003pev.4_Missense_Mutation_p.R982C|BAI3_uc011dxx.2_Missense_Mutation_p.R188C	p.R982C	NM_001704	NP_001695	WXS	Illumina GAIIx	Phase_I	O60242	BAI3_HUMAN			19	3220	+		all_lung(197;0.212)	982					B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.2944C>T	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	C	34	5.358423	0.95854	.	.	ENSG00000135298	ENST00000370598;ENST00000238918	T;T	0.37752	1.18;1.18	6.07	6.07	0.98685	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.63885	0.2549	M	0.86651	2.83	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.995;0.999	T	0.66972	-0.5788	10	0.66056	D	0.02	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	188;982;982	B7Z356;A8K0Y1;O60242	.;.;BAI3_HUMAN	C	982;188	ENSP00000359630:R982C;ENSP00000238918:R188C	ENSP00000238918:R188C	R	+	1	0	BAI3	70091614	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.945000	0.70226	2.885000	0.99019	0.655000	0.94253	CGC		0.403	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			12	134	0	0	0	1	0	12	134				
GAS1	2619	broad.mit.edu	37	9	89560958	89560958	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr9:89560958G>C	ENST00000298743.7	-	1	1146	c.737C>G	c.(736-738)gCc>gGc	p.A246G	RP11-276H19.1_ENST00000415801.1_lincRNA	NM_002048.2	NP_002039.2	P54826	GAS1_HUMAN	growth arrest-specific 1	246					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cerebellum morphogenesis (GO:0021587)|developmental growth (GO:0048589)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|eye morphogenesis (GO:0048592)|middle ear morphogenesis (GO:0042474)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein processing (GO:0010955)|negative regulation of smoothened signaling pathway (GO:0045879)|odontogenesis (GO:0042476)|outer ear morphogenesis (GO:0042473)|palate development (GO:0060021)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|programmed cell death (GO:0012501)|regulation of apoptotic process (GO:0042981)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|regulation of smoothened signaling pathway (GO:0008589)	anchored component of plasma membrane (GO:0046658)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|lung(2)|skin(1)	4						GCCCAGCTCGGCGCCGAAGCA	0.701																																						uc004aox.4																			0				kidney(1)|lung(2)|skin(1)	4						c.(736-738)gCc>gGc		Homo sapiens growth arrest-specific 1 (GAS1), mRNA.							14.0	16.0	15.0					9																	89560958		2183	4286	6469	SO:0001583	missense	2619				cell cycle arrest|negative regulation of S phase of mitotic cell cycle	anchored to plasma membrane		g.chr9:89560958G>C		CCDS6674.1	9q21.3-q22	2008-07-21			ENSG00000180447	ENSG00000180447			4165	protein-coding gene	gene with protein product	"""Growth arrest-specific gene-1"""	139185				8307588	Standard	NM_002048		Approved		uc004aox.4	P54826	OTTHUMG00000020141	ENST00000298743.7:c.737C>G	9.37:g.89560958G>C	ENSP00000298743:p.Ala246Gly		Somatic				BC036850_uc004aoy.3_5'Flank	p.A246G	NM_002048	NP_002039	WXS	Illumina GAIIx	Phase_I	P54826	GAS1_HUMAN			0	1147	-			246					B9EGM4|Q6B086	Missense_Mutation	SNP	ENST00000298743.7	37	c.737C>G	CCDS6674.1	.	.	.	.	.	.	.	.	.	.	G	6.152	0.396197	0.11638	.	.	ENSG00000180447	ENST00000298743	D	0.83163	-1.69	4.49	4.49	0.54785	.	0.353063	0.21228	U	0.078027	T	0.65831	0.2729	N	0.14661	0.345	0.09310	N	0.999998	B	0.02656	0.0	B	0.04013	0.001	T	0.49082	-0.8976	10	0.18276	T	0.48	-5.9837	7.7042	0.28640	0.0886:0.1663:0.7451:0.0	.	246	P54826	GAS1_HUMAN	G	246	ENSP00000298743:A246G	ENSP00000298743:A246G	A	-	2	0	GAS1	88750778	0.722000	0.28017	0.990000	0.47175	0.280000	0.26924	1.812000	0.38952	2.046000	0.60703	0.549000	0.68633	GCC		0.701	GAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052928.1	NM_002048		4	28	0	0	0	1	0	4	28				
MRPS30	10884	broad.mit.edu	37	5	44809124	44809124	+	Silent	SNP	C	C	T			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr5:44809124C>T	ENST00000507110.1	+	1	98	c.60C>T	c.(58-60)acC>acT	p.T20T	RP11-53O19.1_ENST00000508123.1_RNA|RP11-53O19.1_ENST00000514597.1_RNA|RP11-53O19.1_ENST00000505401.1_RNA|RP11-53O19.1_ENST00000508945.1_RNA|RP11-53O19.1_ENST00000503179.1_RNA|RP11-53O19.1_ENST00000503452.1_RNA|RP11-53O19.1_ENST00000505637.1_RNA|RP11-53O19.1_ENST00000505302.1_RNA	NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	20					apoptotic process (GO:0006915)|translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					CATTGCACACCGCGGCTAATG	0.647																																						uc003joh.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20						c.(58-60)acC>acT		Homo sapiens mitochondrial ribosomal protein S30 (MRPS30), nuclear gene encoding mitochondrial protein, mRNA.							11.0	12.0	11.0					5																	44809124		2160	4252	6412	SO:0001819	synonymous_variant	10884				apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr5:44809124C>T	AF146192	CCDS3951.1	5q11	2012-09-13		2001-11-09	ENSG00000112996	ENSG00000112996		"""Mitochondrial ribosomal proteins / small subunits"""	8769	protein-coding gene	gene with protein product		611991		PDCD9		10640817, 11279123	Standard	NM_016640		Approved	PAP	uc003joh.3	Q9NP92	OTTHUMG00000096967	ENST00000507110.1:c.60C>T	5.37:g.44809124C>T			Somatic				MRPS30_uc003joi.1_5'Flank	p.T20T	NM_016640	NP_057724	WXS	Illumina GAIIx	Phase_I	Q9NP92	RT30_HUMAN			0	98	+	Lung NSC(6;8.08e-07)		20					Q96I91|Q96Q19|Q9H0P8|Q9NSF9|Q9NZ76	Silent	SNP	ENST00000507110.1	37	c.60C>T	CCDS3951.1																																																																																				0.647	MRPS30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214033.2	NM_016640		8	9	0	0	0	1	0	8	9				
MRPS23	51649	broad.mit.edu	37	17	55918341	55918341	+	Silent	SNP	C	C	G			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr17:55918341C>G	ENST00000313608.8	-	4	411	c.366G>C	c.(364-366)ggG>ggC	p.G122G	MRPS23_ENST00000578444.1_Silent_p.G122G	NM_016070.3	NP_057154.2	Q9Y3D9	RT23_HUMAN	mitochondrial ribosomal protein S23	122					translation (GO:0006412)	intermediate filament cytoskeleton (GO:0045111)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|large_intestine(1)|lung(2)	5	Breast(9;8.75e-08)					ATAAAGCCTTCCCTGTTTCCA	0.398																																						uc002ivc.3																			0		p.G122R(1)		endometrium(2)|large_intestine(1)|lung(2)	5						c.(364-366)ggG>ggC		Homo sapiens mitochondrial ribosomal protein S23 (MRPS23), nuclear gene encoding mitochondrial protein, mRNA.							242.0	215.0	225.0					17																	55918341		2203	4300	6503	SO:0001819	synonymous_variant	51649				translation	intermediate filament cytoskeleton|mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome	g.chr17:55918341C>G	AB061206	CCDS11598.1	17q22-q23	2012-09-13				ENSG00000181610		"""Mitochondrial ribosomal proteins / small subunits"""	14509	protein-coding gene	gene with protein product		611985				11279123	Standard	NM_016070		Approved	MRP-S23, CGI-138, HSPC329	uc002ivc.3	Q9Y3D9		ENST00000313608.8:c.366G>C	17.37:g.55918341C>G			Somatic					p.G122G	NM_016070	NP_057154	WXS	Illumina GAIIx	Phase_I	Q9Y3D9	RT23_HUMAN			3	428	-	Breast(9;8.75e-08)		122					B2R6V3|Q96Q24|Q9BWH8|Q9P053	Silent	SNP	ENST00000313608.8	37	c.366G>C	CCDS11598.1																																																																																				0.398	MRPS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443301.1	NM_016070		3	144	0	0	0	1	0	3	144				
ENPP2	5168	broad.mit.edu	37	8	120606083	120606083	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr8:120606083C>G	ENST00000075322.6	-	12	1048	c.990G>C	c.(988-990)agG>agC	p.R330S	ENPP2_ENST00000259486.6_Missense_Mutation_p.R382S|ENPP2_ENST00000522167.1_5'Flank|ENPP2_ENST00000522826.1_Missense_Mutation_p.R330S|ENPP2_ENST00000427067.2_Missense_Mutation_p.R326S	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	330					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TGTCGATTTCCCTCAGAGGAT	0.423																																					Melanoma(20;305 879 2501 4818 31020)	uc003yos.2																			0				breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69						c.(1144-1146)agG>agC		Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 2 (ENPP2), transcript variant 1, mRNA.							255.0	238.0	244.0					8																	120606083		2203	4300	6503	SO:0001583	missense	5168				G-protein coupled receptor protein signaling pathway|cellular component movement|chemotaxis|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120606083C>G	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.990G>C	8.37:g.120606083C>G	ENSP00000075322:p.Arg330Ser		Somatic				ENPP2_uc003yor.2_5'Flank|ENPP2_uc010mdd.2_Missense_Mutation_p.R330S|ENPP2_uc003yot.2_Missense_Mutation_p.R330S	p.R382S	NM_006209	NP_006200	WXS	Illumina GAIIx	Phase_I	Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		12	1232	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		330					A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	c.1146G>C	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.980584	0.74474	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522826;ENST00000075322	T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73	5.5	3.71	0.42584	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.095715	0.64402	D	0.000001	T	0.73442	0.3587	L	0.39467	1.215	0.54753	D	0.999989	P;D;D	0.76494	0.929;0.999;0.99	P;D;P	0.65010	0.811;0.931;0.869	T	0.71623	-0.4537	10	0.48119	T	0.1	.	8.8198	0.35018	0.0:0.7137:0.0:0.2863	.	330;330;382	E9PHP7;Q13822;Q13822-2	.;ENPP2_HUMAN;.	S	382;326;330;330	ENSP00000259486:R382S;ENSP00000403315:R326S;ENSP00000428291:R330S;ENSP00000075322:R330S	ENSP00000075322:R330S	R	-	3	2	ENPP2	120675264	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.101000	0.50283	0.803000	0.34113	0.655000	0.94253	AGG		0.423	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			11	335	0	0	0	1	0	11	335				
CDS2	8760	broad.mit.edu	37	20	5169753	5169753	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr20:5169753C>T	ENST00000460006.1	+	11	1329	c.1022C>T	c.(1021-1023)gCt>gTt	p.A341V	CDS2_ENST00000535100.1_Missense_Mutation_p.A111V|CDS2_ENST00000379070.3_3'UTR|CDS2_ENST00000379062.4_Missense_Mutation_p.A221V	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2	341					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	phosphatidate cytidylyltransferase activity (GO:0004605)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						CACAGCATCGCTCTCTCCACC	0.458																																						uc002wls.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						c.(1021-1023)gCt>gTt		Homo sapiens CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2 (CDS2), mRNA.							180.0	166.0	171.0					20																	5169753		2203	4300	6503	SO:0001583	missense	8760				phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphatidate cytidylyltransferase activity	g.chr20:5169753C>T	AF069532	CCDS13088.1	20p13	2006-03-28			ENSG00000101290	ENSG00000101290	2.7.7.41		1801	protein-coding gene	gene with protein product		603549				9806839, 9889000	Standard	NM_003818		Approved		uc002wls.3	O95674	OTTHUMG00000031801	ENST00000460006.1:c.1022C>T	20.37:g.5169753C>T	ENSP00000419879:p.Ala341Val		Somatic				CDS2_uc002wlw.3_Missense_Mutation_p.A221V|CDS2_uc002wlv.3_Missense_Mutation_p.A243V|CDS2_uc010zqv.2_Missense_Mutation_p.A111V	p.A341V	NM_003818	NP_003809	WXS	Illumina GAIIx	Phase_I	O95674	CDS2_HUMAN			10	1354	+			341					B2RDC6|D3DW04|Q5TDY2|Q5TDY3|Q5TDY4|Q5TDY5|Q9BYK5|Q9NTT2	Missense_Mutation	SNP	ENST00000460006.1	37	c.1022C>T	CCDS13088.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.613688	0.28712	.	.	ENSG00000101290	ENST00000460006;ENST00000379062;ENST00000535100	T;T;T	0.40476	1.03;1.03;1.03	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.29491	0.0735	N	0.17838	0.53	0.80722	D	1	B;B;B	0.23128	0.002;0.038;0.08	B;B;B	0.28305	0.004;0.024;0.088	T	0.09465	-1.0673	10	0.02654	T	1	-1.4197	18.5497	0.91058	0.0:1.0:0.0:0.0	.	111;221;341	F6VWC5;E7EQ83;O95674	.;.;CDS2_HUMAN	V	341;221;111	ENSP00000419879:A341V;ENSP00000368352:A221V;ENSP00000440555:A111V	ENSP00000368352:A221V	A	+	2	0	CDS2	5117753	1.000000	0.71417	0.996000	0.52242	0.974000	0.67602	6.024000	0.70857	2.802000	0.96397	0.542000	0.68232	GCT		0.458	CDS2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077858.2			46	75	0	0	0	1	0	46	75				
OR2J2	26707	broad.mit.edu	37	6	29141930	29141930	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr6:29141930G>A	ENST00000377167.2	+	1	620	c.518G>A	c.(517-519)cGc>cAc	p.R173H		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	173						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						TGTGGACATCGCCTAGTGGAT	0.468																																						uc011dlm.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						c.(517-519)cGc>cAc		Homo sapiens olfactory receptor, family 2, subfamily J, member 2 (OR2J2), mRNA.							194.0	175.0	181.0					6																	29141930		1946	4142	6088	SO:0001583	missense	26707				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29141930G>A		CCDS43434.1	6p22.2-p21.31	2012-08-09			ENSG00000204700	ENSG00000204700		"""GPCR / Class A : Olfactory receptors"""	8260	protein-coding gene	gene with protein product							Standard	NM_030905		Approved	OR6-8, hs6M1-6, dJ80I19.4	uc011dlm.2	O76002	OTTHUMG00000031091	ENST00000377167.2:c.518G>A	6.37:g.29141930G>A	ENSP00000366372:p.Arg173His		Somatic					p.R173H	NM_030905	NP_112167	WXS	Illumina GAIIx	Phase_I	O76002	OR2J2_HUMAN			0	620	+			173					A6NCU9|A6NLD0|B0UY53|Q32N09|Q5ST39|Q5SUJ6|Q6IF24|Q9GZK2|Q9GZL3	Missense_Mutation	SNP	ENST00000377167.2	37	c.518G>A	CCDS43434.1	.	.	.	.	.	.	.	.	.	.	G	2.148	-0.395248	0.04899	.	.	ENSG00000204700	ENST00000377167	T	0.00107	8.72	2.3	-2.05	0.07321	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00039	0.0001	N	0.16307	0.4	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.01635	-1.1307	9	0.21540	T	0.41	.	8.1128	0.30924	0.7892:0.0:0.2108:0.0	.	173	O76002	OR2J2_HUMAN	H	173	ENSP00000366372:R173H	ENSP00000366372:R173H	R	+	2	0	OR2J2	29249909	0.000000	0.05858	0.981000	0.43875	0.440000	0.31957	0.289000	0.18957	-0.483000	0.06772	0.205000	0.17691	CGC		0.468	OR2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076131.2			44	171	0	0	0	1	0	44	171				
DTNA	1837	broad.mit.edu	37	18	32374191	32374191	+	Silent	SNP	C	C	T			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr18:32374191C>T	ENST00000399113.3	+	3	339	c.339C>T	c.(337-339)aaC>aaT	p.N113N	DTNA_ENST00000283365.9_Silent_p.N113N|DTNA_ENST00000598142.1_Silent_p.N113N|DTNA_ENST00000595022.1_Silent_p.N113N|DTNA_ENST00000315456.6_Silent_p.N113N|DTNA_ENST00000596745.1_Silent_p.N113N|DTNA_ENST00000444659.1_Silent_p.N113N|DTNA_ENST00000399121.5_Silent_p.N113N|DTNA_ENST00000348997.5_Silent_p.N113N|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000269191.6_Silent_p.N113N|DTNA_ENST00000598334.1_Silent_p.N113N|DTNA_ENST00000269190.7_Silent_p.N113N|DTNA_ENST00000597599.1_Silent_p.N113N|DTNA_ENST00000554864.3_Silent_p.N113N|DTNA_ENST00000598774.1_Silent_p.N113N			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	113	Interaction with MAGEE1. {ECO:0000250}.				neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						TCCTCCTTAACTTCCTGCTTG	0.473																																						uc010dmn.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(337-339)aaC>aaT		Homo sapiens dystrobrevin, alpha (DTNA), transcript variant 1, mRNA.							217.0	170.0	186.0					18																	32374191		2203	4300	6503	SO:0001819	synonymous_variant	1837				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	g.chr18:32374191C>T	U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"""dystrophin-related protein 3"""	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.339C>T	18.37:g.32374191C>T			Somatic				DTNA_uc002kxu.2_Silent_p.N113N|DTNA_uc010xbx.2_Silent_p.N113N|DTNA_uc002kxv.4_Silent_p.N113N|DTNA_uc002kxw.2_Silent_p.N113N|DTNA_uc002kxx.2_Silent_p.N113N|DTNA_uc002kxz.2_Silent_p.N113N|DTNA_uc002kxy.2_Silent_p.N113N|DTNA_uc010dmj.3_Silent_p.N113N|DTNA_uc002kyb.4_Silent_p.N113N|DTNA_uc010dml.3_Silent_p.N113N|DTNA_uc010dmm.3_Silent_p.N113N	p.N113N	NM_001390	NP_001381	WXS	Illumina GAIIx	Phase_I	Q9Y4J8	DTNA_HUMAN			2	340	+			113			Interaction with MAGEE1 (By similarity).		A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Silent	SNP	ENST00000399113.3	37	c.339C>T	CCDS59311.1																																																																																				0.473	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2	NM_001390		13	95	0	0	0	1	0	13	95				
NAIP	4671	broad.mit.edu	37	5	70308276	70308276	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr5:70308276T>C	ENST00000517649.1	-	4	757	c.467A>G	c.(466-468)tAc>tGc	p.Y156C	NAIP_ENST00000503719.2_Intron|NAIP_ENST00000508426.2_Missense_Mutation_p.Y156C|NAIP_ENST00000523981.1_Intron|NAIP_ENST00000194097.4_Missense_Mutation_p.Y156C	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	156					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|metal ion binding (GO:0046872)			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		CTCTTCTTGGTACCTCATTTT	0.468																																						uc003kar.1																			0				central_nervous_system(1)	1						c.(466-468)tAc>tGc		Homo sapiens NLR family, apoptosis inhibitory protein (NAIP), transcript variant 1, mRNA.							209.0	157.0	175.0					5																	70308276		2202	4296	6498	SO:0001583	missense	4671				anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding	g.chr5:70308276T>C	U19251	CCDS4009.1, CCDS43327.1	5q13.2	2010-06-16	2006-12-08	2006-12-08	ENSG00000249437	ENSG00000249437		"""Baculoviral IAP repeat containing"", ""Nucleotide-binding domain and leucine rich repeat containing"""	7634	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and BIR domain containing 1"", ""NLR family, BIR domain containing 1"""	600355	"""baculoviral IAP repeat-containing 1"""	BIRC1		7813013	Standard	NM_022892		Approved	NLRB1	uc003jyj.1	Q13075	OTTHUMG00000163318	ENST00000517649.1:c.467A>G	5.37:g.70308276T>C	ENSP00000428657:p.Tyr156Cys		Somatic				NAIP_uc003kat.1_Intron|NAIP_uc011crs.1_Missense_Mutation_p.Y156C|NAIP_uc003kas.1_Intron	p.Y156C	NM_004536	NP_004527	WXS	Illumina GAIIx	Phase_I	Q13075	BIRC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)	3	1185	-		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)	156					B9EG72|E9PHD1|O75857|Q13730|Q59GI6|Q8TDZ4|Q99796	Missense_Mutation	SNP	ENST00000517649.1	37	c.467A>G	CCDS4009.1	.	.	.	.	.	.	.	.	.	.	t	8.868	0.948498	0.18356	.	.	ENSG00000249437	ENST00000517649;ENST00000194097;ENST00000508426	T;T;T	0.04551	3.6;3.6;3.6	3.26	3.26	0.37387	Baculoviral inhibition of apoptosis protein repeat (1);	.	.	.	.	T	0.04318	0.0119	L	0.29908	0.895	0.09310	N	1	B;P	0.41008	0.084;0.735	B;B	0.34385	0.012;0.181	T	0.37549	-0.9701	9	0.72032	D	0.01	.	11.4969	0.50413	0.0:0.0:0.0:1.0	.	156;156	E7EQW0;Q13075	.;BIRC1_HUMAN	C	156	ENSP00000428657:Y156C;ENSP00000443944:Y156C;ENSP00000429545:Y156C	ENSP00000443944:Y156C	Y	-	2	0	NAIP	70344032	0.563000	0.26594	0.015000	0.15790	0.410000	0.31052	2.179000	0.42528	1.722000	0.51474	0.358000	0.22013	TAC		0.468	NAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372649.6	NM_004536		3	124	0	0	0	1	0	3	124				
PRKD3	23683	broad.mit.edu	37	2	37496767	37496767	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr2:37496767C>T	ENST00000379066.1	-	13	2530	c.1768G>A	c.(1768-1770)Gtt>Att	p.V590I	PRKD3_ENST00000234179.2_Missense_Mutation_p.V590I			O94806	KPCD3_HUMAN	protein kinase D3	590	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				CCTCCATAAACGATGCCAAAC	0.368																																					Melanoma(80;621 1355 8613 11814 51767)	uc002rqd.3																			0				breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1768-1770)Gtt>Att		Homo sapiens protein kinase D3 (PRKD3), mRNA.							89.0	83.0	85.0					2																	37496767		2203	4300	6503	SO:0001583	missense	23683				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr2:37496767C>T	AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"""Pleckstrin homology (PH) domain containing"""	9408	protein-coding gene	gene with protein product		607077	"""protein kinase C, nu"""	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.1768G>A	2.37:g.37496767C>T	ENSP00000368356:p.Val590Ile		Somatic				PRKD3_uc002rqe.1_Missense_Mutation_p.V190I|PRKD3_uc002rqf.1_Missense_Mutation_p.V590I	p.V590I	NM_005813	NP_005804	WXS	Illumina GAIIx	Phase_I	O94806	KPCD3_HUMAN			11	2323	-		all_hematologic(82;0.21)	590			Protein kinase.		D6W587|Q53TR7|Q8NEL8	Missense_Mutation	SNP	ENST00000379066.1	37	c.1768G>A	CCDS1789.1	.	.	.	.	.	.	.	.	.	.	C	32	5.185843	0.94885	.	.	ENSG00000115825	ENST00000379066;ENST00000234179;ENST00000443977	T;T;T	0.71579	-0.58;-0.58;-0.58	5.23	5.23	0.72850	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.86826	0.6026	M	0.87900	2.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.99	D	0.88874	0.3335	10	0.87932	D	0	-19.5163	19.1746	0.93599	0.0:1.0:0.0:0.0	.	590;590	O94806-2;O94806	.;KPCD3_HUMAN	I	590;590;101	ENSP00000368356:V590I;ENSP00000234179:V590I;ENSP00000398743:V101I	ENSP00000234179:V590I	V	-	1	0	PRKD3	37350271	1.000000	0.71417	0.998000	0.56505	0.888000	0.51559	7.775000	0.85489	2.587000	0.87381	0.563000	0.77884	GTT		0.368	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3	NM_005813		3	56	0	0	0	1	0	3	56				
ADSSL1	122622	broad.mit.edu	37	14	105212622	105212622	+	Silent	SNP	T	T	G			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr14:105212622T>G	ENST00000555674.1	+	1	230	c.39T>G	c.(37-39)ccT>ccG	p.P13P	ADSSL1_ENST00000332972.5_Silent_p.P450P|ADSSL1_ENST00000556623.1_Silent_p.P13P|ADSSL1_ENST00000330877.2_Silent_p.P407P|ADSSL1_ENST00000554657.1_3'UTR					adenylosuccinate synthase like 1											central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)		AAACGCTGCCTGGGTGGAAAG	0.587																																						uc001ype.3																			0				central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11						c.(1348-1350)ccT>ccG		Homo sapiens adenylosuccinate synthase like 1 (ADSSL1), transcript variant 1, mRNA.	L-Aspartic Acid(DB00128)						72.0	68.0	69.0					14																	105212622		2203	4300	6503	SO:0001819	synonymous_variant	122622				AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	GTP binding|adenylosuccinate synthase activity|magnesium ion binding|phosphate binding	g.chr14:105212622T>G	AK095921	CCDS9990.1, CCDS9991.1	14q32.33	2010-08-05			ENSG00000185100	ENSG00000185100			20093	protein-coding gene	gene with protein product		612498					Standard	NM_199165		Approved	FLJ38602	uc001ype.3	Q8N142		ENST00000555674.1:c.39T>G	14.37:g.105212622T>G			Somatic				ADSSL1_uc001ypd.3_Silent_p.P407P|ADSSL1_uc001ypf.3_Non-coding_Transcript	p.P450P	NM_199165	NP_954634	WXS	Illumina GAIIx	Phase_I	Q8N142	PURA1_HUMAN	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	11	1352	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	407						Silent	SNP	ENST00000555674.1	37	c.1350T>G																																																																																					0.587	ADSSL1-010	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000410540.1			7	79	0	0	0	1	0	7	79				
NKD1	85407	broad.mit.edu	37	16	50666208	50666208	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr16:50666208C>T	ENST00000268459.3	+	9	936	c.712C>T	c.(712-714)Cgc>Tgc	p.R238C		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	238					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of convergent extension involved in axis elongation (GO:1901233)|positive regulation of non-canonical Wnt signaling pathway via JNK cascade (GO:1901231)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		GGGTGACAGCCGCCTGGAGCA	0.562																																						uc002egg.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23						c.(712-714)Cgc>Tgc		Homo sapiens naked cuticle homolog 1 (Drosophila) (NKD1), mRNA.							69.0	58.0	61.0					16																	50666208		2198	4300	6498	SO:0001583	missense	85407				Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding	g.chr16:50666208C>T	AF358135	CCDS10743.1	16q12.1	2013-01-10			ENSG00000140807	ENSG00000140807		"""EF-hand domain containing"""	17045	protein-coding gene	gene with protein product		607851				11356022	Standard	NM_033119		Approved		uc002egg.2	Q969G9	OTTHUMG00000133169	ENST00000268459.3:c.712C>T	16.37:g.50666208C>T	ENSP00000268459:p.Arg238Cys		Somatic					p.R238C	NM_033119	NP_149110	WXS	Illumina GAIIx	Phase_I	Q969G9	NKD1_HUMAN		GBM - Glioblastoma multiforme(240;0.243)	8	936	+		all_cancers(37;0.229)	238					B2RC39|Q8WZ08	Missense_Mutation	SNP	ENST00000268459.3	37	c.712C>T	CCDS10743.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.827943	0.71143	.	.	ENSG00000140807	ENST00000268459	T	0.64260	-0.09	5.14	4.17	0.49024	.	0.434585	0.26366	N	0.024796	T	0.37679	0.1012	N	0.03608	-0.345	0.35483	D	0.798335	D	0.57257	0.979	B	0.43123	0.409	T	0.53704	-0.8401	10	0.56958	D	0.05	-7.736	8.5865	0.33662	0.2219:0.6398:0.1383:0.0	.	238	Q969G9	NKD1_HUMAN	C	238	ENSP00000268459:R238C	ENSP00000268459:R238C	R	+	1	0	NKD1	49223709	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.563000	0.36364	1.145000	0.42336	0.563000	0.77884	CGC		0.562	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256873.1			27	37	0	0	0	1	0	27	37				
CSF2RB	1439	broad.mit.edu	37	22	37325500	37325500	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr22:37325500C>A	ENST00000403662.3	+	5	670	c.448C>A	c.(448-450)Ctg>Atg	p.L150M	CSF2RB_ENST00000536485.1_Missense_Mutation_p.L91M|CSF2RB_ENST00000262825.5_Missense_Mutation_p.L150M|CSF2RB_ENST00000406230.1_Missense_Mutation_p.L150M			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	150	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CCACTTCCTGCTGACCTGGAG	0.627																																						uc003aqc.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42						c.(448-450)Ctg>Atg		Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	Sargramostim(DB00020)						98.0	97.0	98.0					22																	37325500		2203	4300	6503	SO:0001583	missense	1439				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity	g.chr22:37325500C>A	M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"""CD molecules"", ""Fibronectin type III domain containing"""	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.448C>A	22.37:g.37325500C>A	ENSP00000384053:p.Leu150Met		Somatic				CSF2RB_uc003aqa.4_Missense_Mutation_p.L150M	p.L150M	NM_000395	NP_000386	WXS	Illumina GAIIx	Phase_I	P32927	IL3RB_HUMAN			3	620	+			150			Fibronectin type-III 1.		Q5JZI1|Q6ICE0	Missense_Mutation	SNP	ENST00000403662.3	37	c.448C>A	CCDS13936.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.529916	0.64860	.	.	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000421539;ENST00000536485	T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07	5.22	5.22	0.72569	Fibronectin, type III (3);Immunoglobulin-like fold (1);	.	.	.	.	D	0.86973	0.6062	M	0.81802	2.56	0.44619	D	0.99759	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.981	D	0.87914	0.2699	9	0.87932	D	0	-7.6773	10.2304	0.43252	0.0:0.9087:0.0:0.0913	.	150;150	P32927-2;P32927	.;IL3RB_HUMAN	M	150;150;150;150;70;91	ENSP00000384053:L150M;ENSP00000262825:L150M;ENSP00000385271:L150M;ENSP00000393585:L70M;ENSP00000440003:L91M	ENSP00000262825:L150M	L	+	1	2	CSF2RB	35655446	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	2.775000	0.47702	2.578000	0.87016	0.655000	0.94253	CTG		0.627	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	NM_000395		4	169	0	0	0	1	0	4	169				
ST18	9705	broad.mit.edu	37	8	53084925	53084925	+	Nonsense_Mutation	SNP	C	C	A	rs566471582		TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr8:53084925C>A	ENST00000276480.7	-	10	1179	c.496G>T	c.(496-498)Gag>Tag	p.E166*		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	166					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				AGAAAGCACTCGTCTGCTTCA	0.398																																						uc003xqz.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(496-498)Gag>Tag		Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.							117.0	106.0	110.0					8																	53084925		2203	4300	6503	SO:0001587	stop_gained	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53084925C>A	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.496G>T	8.37:g.53084925C>A	ENSP00000276480:p.Glu166*		Somatic				ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Nonsense_Mutation_p.E131*|ST18_uc011lds.1_Nonsense_Mutation_p.E71*|ST18_uc003xra.2_Nonsense_Mutation_p.E166*|ST18_uc003xrb.2_Nonsense_Mutation_p.E166*	p.E166*	NM_014682	NP_055497	WXS	Illumina GAIIx	Phase_I	O60284	ST18_HUMAN			4	652	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	166					Q17RY1	Nonsense_Mutation	SNP	ENST00000276480.7	37	c.496G>T	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	C	39	7.449910	0.98292	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	.	.	.	5.63	5.63	0.86233	.	0.763532	0.12681	N	0.447974	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-10.4236	19.6835	0.95972	0.0:1.0:0.0:0.0	.	.	.	.	X	166	.	ENSP00000276480:E166X	E	-	1	0	ST18	53247478	0.996000	0.38824	0.064000	0.19789	0.087000	0.18053	4.485000	0.60279	2.650000	0.89964	0.655000	0.94253	GAG		0.398	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			3	87	0	0	0	1	0	3	87				
DCT	1638	broad.mit.edu	37	13	95121126	95121126	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr13:95121126C>T	ENST00000377028.5	-	2	882	c.469G>A	c.(469-471)Gtg>Atg	p.V157M	DCT_ENST00000490854.1_5'Flank|DCT_ENST00000446125.1_Missense_Mutation_p.V157M	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	157					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		GTGGTGATCACGTAGTCGGGG	0.517																																						uc010afh.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50						c.(469-471)Gtg>Atg		Homo sapiens dopachrome tautomerase (dopachrome delta-isomerase, tyrosine-related protein 2) (DCT), transcript variant 2, mRNA.							219.0	215.0	217.0					13																	95121126		2203	4300	6503	SO:0001583	missense	1638				epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity	g.chr13:95121126C>T	D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"""dopachrome delta-isomerase"""	191275	"""tyrosine-related protein 2"""	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.469G>A	13.37:g.95121126C>T	ENSP00000366227:p.Val157Met		Somatic				DCT_uc001vlv.4_Missense_Mutation_p.V157M	p.V157M	NM_001129889	NP_001123361	WXS	Illumina GAIIx	Phase_I	P40126	TYRP2_HUMAN		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)	1	896	-	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)	157					Q09GT4	Missense_Mutation	SNP	ENST00000377028.5	37	c.469G>A	CCDS9470.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.477301	0.63849	.	.	ENSG00000080166	ENST00000377028;ENST00000446125	D;D	0.84873	-1.91;-1.91	5.69	4.85	0.62838	Uncharacterised domain, di-copper centre (2);	0.114822	0.64402	D	0.000010	D	0.91168	0.7218	M	0.82433	2.59	0.58432	D	0.999998	D;D	0.76494	0.974;0.999	B;P	0.59761	0.36;0.863	D	0.91661	0.5342	9	.	.	.	-16.0353	14.3176	0.66463	0.0:0.9292:0.0:0.0708	.	157;157	Q09GT4;P40126	.;TYRP2_HUMAN	M	157	ENSP00000366227:V157M;ENSP00000392762:V157M	.	V	-	1	0	DCT	93919127	0.993000	0.37304	0.998000	0.56505	0.385000	0.30292	3.057000	0.49931	1.403000	0.46800	0.655000	0.94253	GTG		0.517	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3			96	180	0	0	0	1	0	96	180				
COL4A5	1287	broad.mit.edu	37	X	107869596	107869596	+	Intron	SNP	A	A	G			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chrX:107869596A>G	ENST00000361603.2	+	36	3490				COL4A5_ENST00000328300.6_Intron	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5						axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TTTGGCATATAGTTTTAGGCA	0.373									Alport syndrome with Diffuse Leiomyomatosis																													uc004eob.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						c.(2086-2088)tAg>tGg		Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 1, mRNA.							98.0	88.0	91.0					X																	107869596		2203	4300	6503	SO:0001627	intron_variant	1287	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107869596A>G	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.3246+17A>G	X.37:g.107869596A>G			Somatic				COL4A5_uc004enz.1_Intron|COL4A5_uc022ccg.1_Intron	p.*696W	NM_000495	NP_000486	WXS	Illumina GAIIx	Phase_I	P29400	CO4A5_HUMAN			19	2719	+			0			Triple-helical region.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Nonstop_Mutation	SNP	ENST00000361603.2	37	c.2087A>G	CCDS14543.1																																																																																				0.373	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			33	76	0	0	0	1	0	33	76				
CNGA2	1260	broad.mit.edu	37	X	150911807	150911807	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chrX:150911807C>T	ENST00000329903.4	+	6	865	c.832C>T	c.(832-834)Ctt>Ttt	p.L278F		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	278					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					CATCAGCAACCTTGTCCTCTA	0.512																																						uc004fey.1																			0				breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49						c.(832-834)Ctt>Ttt		Homo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA.							193.0	154.0	167.0					X																	150911807		2203	4300	6503	SO:0001583	missense	1260				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chrX:150911807C>T	S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.832C>T	X.37:g.150911807C>T	ENSP00000328478:p.Leu278Phe		Somatic					p.L278F	NM_005140	NP_005131	WXS	Illumina GAIIx	Phase_I	Q16280	CNGA2_HUMAN			6	1056	+	Acute lymphoblastic leukemia(192;6.56e-05)		278					A0AVD0	Missense_Mutation	SNP	ENST00000329903.4	37	c.832C>T	CCDS14701.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.678142	0.47886	.	.	ENSG00000183862	ENST00000329903	D	0.99462	-5.94	5.09	5.09	0.68999	Ion transport (1);	0.000000	0.64402	D	0.000001	D	0.99591	0.9852	M	0.91768	3.24	0.45704	D	0.998613	D	0.89917	1.0	D	0.91635	0.999	D	0.97907	1.0306	10	0.87932	D	0	.	15.0761	0.72077	0.0:1.0:0.0:0.0	.	278	Q16280	CNGA2_HUMAN	F	278	ENSP00000328478:L278F	ENSP00000328478:L278F	L	+	1	0	CNGA2	150662463	1.000000	0.71417	0.986000	0.45419	0.854000	0.48673	0.741000	0.26202	2.236000	0.73375	0.600000	0.82982	CTT		0.512	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1	NM_005140		4	222	0	0	0	1	0	4	222				
GOLGA4	2803	broad.mit.edu	37	3	37323489	37323489	+	Missense_Mutation	SNP	G	G	A	rs7612972		TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr3:37323489G>A	ENST00000361924.2	+	3	577	c.203G>A	c.(202-204)cGg>cAg	p.R68Q	GOLGA4_ENST00000444882.1_Missense_Mutation_p.R68Q|GOLGA4_ENST00000356847.4_Missense_Mutation_p.R90Q|GOLGA4_ENST00000435830.2_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	68					Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CTCCAGCTCCGGGTGCCCTCC	0.443																																						uc003cgw.3																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(268-270)cGg>cAg		Homo sapiens golgin A4 (GOLGA4), transcript variant 1, mRNA.							79.0	90.0	86.0					3																	37323489		2203	4300	6503	SO:0001583	missense	2803				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	g.chr3:37323489G>A	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.203G>A	3.37:g.37323489G>A	ENSP00000354486:p.Arg68Gln		Somatic				GOLGA4_uc010hgr.2_Intron|GOLGA4_uc003cgv.3_Missense_Mutation_p.R68Q|GOLGA4_uc010hgs.3_Missense_Mutation_p.R68Q|GOLGA4_uc003cgx.3_5'Flank|GOLGA4_uc003cgu.2_Missense_Mutation_p.R90Q	p.R90Q	NM_001172713	NP_001166184	WXS	Illumina GAIIx	Phase_I	Q13439	GOGA4_HUMAN			3	629	+			68					F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	c.269G>A	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	G	32	5.128376	0.94473	.	.	ENSG00000144674	ENST00000361924;ENST00000444882;ENST00000356847;ENST00000450863	T;T	0.24723	1.87;1.84	5.68	5.68	0.88126	.	0.000000	0.32736	N	0.005713	T	0.47857	0.1468	L	0.50333	1.59	0.42190	D	0.991729	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.87578	0.922;0.996;0.996;0.998	T	0.18967	-1.0320	10	0.37606	T	0.19	.	19.786	0.96437	0.0:0.0:1.0:0.0	rs7612972	68;90;68;90	Q86W71;F8W8Q7;Q13439;E7EVX2	.;.;GOGA4_HUMAN;.	Q	68;68;90;90	ENSP00000354486:R68Q;ENSP00000349305:R90Q	ENSP00000349305:R90Q	R	+	2	0	GOLGA4	37298493	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.071000	0.64382	2.676000	0.91093	0.563000	0.77884	CGG		0.443	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		3	92	0	0	0	1	0	3	92				
PRPS2	5634	broad.mit.edu	37	X	12837725	12837725	+	Silent	SNP	C	C	T			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chrX:12837725C>T	ENST00000380668.5	+	5	758	c.630C>T	c.(628-630)gaC>gaT	p.D210D	PRPS2_ENST00000398491.2_Silent_p.D213D	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	210					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|AMP biosynthetic process (GO:0006167)|nucleobase-containing compound metabolic process (GO:0006139)|organ regeneration (GO:0031100)	extracellular vesicular exosome (GO:0070062)|ribose phosphate diphosphokinase complex (GO:0002189)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|carbohydrate binding (GO:0030246)|GDP binding (GO:0019003)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						TGGTGGGCGACGTGAAGGACC	0.552																																						uc004cva.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						c.(637-639)gaC>gaT		Homo sapiens phosphoribosyl pyrophosphate synthetase 2 (PRPS2), transcript variant 1, mRNA.							253.0	219.0	230.0					X																	12837725		2203	4300	6503	SO:0001819	synonymous_variant	5634				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chrX:12837725C>T	Y00971	CCDS14150.1, CCDS43918.1	Xp22.2	2012-10-02			ENSG00000101911	ENSG00000101911	2.7.6.1		9465	protein-coding gene	gene with protein product	"""PRS II"", ""ribose-phosphate diphosphokinase 2"""	311860				1962753	Standard	NM_002765		Approved		uc004cva.3	P11908	OTTHUMG00000021139	ENST00000380668.5:c.630C>T	X.37:g.12837725C>T			Somatic				PRPS2_uc004cvb.3_Silent_p.D210D|PRPS2_uc010nec.3_Intron	p.D213D	NM_001039091	NP_001034180	WXS	Illumina GAIIx	Phase_I	P11908	PRPS2_HUMAN			4	782	+			210			Binding of phosphoribosylpyrophosphate (Potential).		Q0VDH9|Q0VDI0|Q15245|Q2TAK7	Silent	SNP	ENST00000380668.5	37	c.639C>T	CCDS14150.1																																																																																				0.552	PRPS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055772.2	NM_002765		97	230	0	0	0	1	0	97	230				
RHBDL3	162494	broad.mit.edu	37	17	30615975	30615975	+	Silent	SNP	C	C	T			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr17:30615975C>T	ENST00000269051.4	+	4	473	c.459C>T	c.(457-459)taC>taT	p.Y153Y	RHBDL3_ENST00000538145.1_Silent_p.Y145Y|RHBDL3_ENST00000536287.1_Silent_p.Y55Y	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN	rhomboid, veinlet-like 3 (Drosophila)	153						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				GCAAGTGGTACTATGACAGCT	0.622																																						uc010csx.1																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16						c.(457-459)taC>taT		Homo sapiens rhomboid, veinlet-like 3 (Drosophila) (RHBDL3), mRNA.							70.0	67.0	68.0					17																	30615975		2203	4300	6503	SO:0001819	synonymous_variant	162494				proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity	g.chr17:30615975C>T	AJ313480	CCDS32613.1	17q11.2	2013-01-10				ENSG00000141314		"""EF-hand domain containing"""	16502	protein-coding gene	gene with protein product			"""rhomboid, veinlet-like 4 (Drosophila)"""	RHBDL4		11900977	Standard	XM_006721733		Approved	VRHO	uc002hhe.1	P58872		ENST00000269051.4:c.459C>T	17.37:g.30615975C>T			Somatic				RHBDL3_uc002hhe.1_Silent_p.Y153Y|RHBDL3_uc010csw.1_Silent_p.Y145Y|RHBDL3_uc010csy.1_Silent_p.Y55Y|RHBDL3_uc002hhf.1_Silent_p.Y55Y	p.Y153Y			WXS	Illumina GAIIx	Phase_I	P58872	RHBL3_HUMAN			3	473	+		Breast(31;0.116)|Ovarian(249;0.182)	153					A6NMH1|Q495Y4|Q495Y5|Q495Y6	Silent	SNP	ENST00000269051.4	37	c.459C>T	CCDS32613.1																																																																																				0.622	RHBDL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447120.1	NM_138328		34	52	0	0	0	1	0	34	52				
CSF2RA	1438	broad.mit.edu	37	X	1407736	1407736	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chrX:1407736C>T	ENST00000381524.3	+	6	614	c.428C>T	c.(427-429)aCg>aTg	p.T143M	CSF2RA_ENST00000381500.1_Missense_Mutation_p.T143M|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000355432.3_Missense_Mutation_p.T143M|CSF2RA_ENST00000417535.2_Missense_Mutation_p.T143M|CSF2RA_ENST00000381529.3_Missense_Mutation_p.T143M|BX649553.3_ENST00000581137.1_RNA|CSF2RA_ENST00000361536.3_Missense_Mutation_p.T143M|CSF2RA_ENST00000355805.2_Missense_Mutation_p.T143M|CSF2RA_ENST00000381509.3_Missense_Mutation_p.T143M|CSF2RA_ENST00000501036.2_Missense_Mutation_p.T10M|CSF2RA_ENST00000432318.2_Missense_Mutation_p.T143M			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	143					response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	AGGGGTCCGACGGCCCCCCGT	0.473													c|||	3	0.000599042	0.0008	0.0	5008	,	,		15400	0.0		0.001	False		,,,				2504	0.001				Esophageal Squamous(131;723 1707 25334 40494 41806)	uc010ncv.2																			0				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45						c.(427-429)aCg>aTg		Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 8, mRNA.	Sargramostim(DB00020)	C	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	117.0	128.0	124.0		428,428,428,29,428,428,428,428,428	1.7	0.0	X		124	2,8590		0,2,4294	no	missense,missense,missense,missense,missense,missense,missense,missense,missense	CSF2RA	NM_001161529.1,NM_001161530.1,NM_001161531.1,NM_001161532.1,NM_006140.4,NM_172245.2,NM_172246.2,NM_172247.2,NM_172249.2	81,81,81,81,81,81,81,81,81	0,2,6497	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	143/401,143/435,143/411,10/268,143/401,143/401,143/378,143/334,143/234	1407736	2,12996	2203	4296	6499	SO:0001583	missense	1438					extracellular region|integral to plasma membrane	cytokine receptor activity	g.chrX:1407736C>T	M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"""CD molecules"", ""Pseudoautosomal regions / PAR1"""	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.428C>T	X.37:g.1407736C>T	ENSP00000370935:p.Thr143Met		Somatic				CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Missense_Mutation_p.T143M|CSF2RA_uc010nct.2_Missense_Mutation_p.T143M|CSF2RA_uc004cpq.2_Missense_Mutation_p.T143M|CSF2RA_uc004cpn.2_Missense_Mutation_p.T143M|CSF2RA_uc004cpo.2_Missense_Mutation_p.T143M|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_Missense_Mutation_p.T10M|CSF2RA_uc004cpp.2_Missense_Mutation_p.T143M|CSF2RA_uc004cpr.2_Missense_Mutation_p.T143M	p.T143M	NM_001161530	NP_001155002	WXS	Illumina GAIIx	Phase_I	P15509	CSF2R_HUMAN			3	454	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	143					A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Missense_Mutation	SNP	ENST00000381524.3	37	c.428C>T	CCDS35191.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	.	12.38	1.919535	0.33908	0.0	2.33E-4	ENSG00000198223	ENST00000381529;ENST00000432318;ENST00000361536;ENST00000381507;ENST00000501036;ENST00000381524;ENST00000412290;ENST00000419094;ENST00000381509;ENST00000355805;ENST00000355432;ENST00000417535;ENST00000381500	T;T;T;D;T;T;T;T;T;T;T;T	0.94931	0.51;0.51;0.51;-3.56;0.51;0.51;0.51;0.51;0.51;0.51;0.51;0.51	1.74	1.74	0.24563	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (1);Short hematopoietin receptor, family 2, conserved site (1);Immunoglobulin-like fold (1);	1.230320	0.06540	U	0.742960	D	0.95421	0.8513	.	.	.	0.09310	N	1	D;D;P;D;D;D	0.76494	0.999;0.999;0.927;0.987;0.998;0.999	P;P;B;P;P;P	0.60012	0.854;0.867;0.328;0.554;0.731;0.761	D	0.86157	0.1591	9	0.48119	T	0.1	.	6.6818	0.23125	0.0:1.0:0.0:0.0	.	143;143;143;143;143;143	P15509-2;A7J003;P15509-3;P15509-6;P15509-5;P15509	.;.;.;.;.;CSF2R_HUMAN	M	143;143;143;143;10;143;143;143;143;143;143;143;143	ENSP00000370940:T143M;ENSP00000416437:T143M;ENSP00000354836:T143M;ENSP00000440491:T10M;ENSP00000370935:T143M;ENSP00000410667:T143M;ENSP00000397452:T143M;ENSP00000370920:T143M;ENSP00000348058:T143M;ENSP00000347606:T143M;ENSP00000394227:T143M;ENSP00000370911:T143M	ENSP00000347606:T143M	T	+	2	0	CSF2RA	1367736	0.001000	0.12720	0.001000	0.08648	0.032000	0.12392	0.417000	0.21214	0.918000	0.36919	0.280000	0.19369	ACG		0.473	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2			11	142	0	0	0	1	0	11	142				
DSCAM	1826	broad.mit.edu	37	21	41648055	41648055	+	Silent	SNP	G	G	A	rs372175757		TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr21:41648055G>A	ENST00000400454.1	-	11	2802	c.2325C>T	c.(2323-2325)gaC>gaT	p.D775D		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	775	Ig-like C2-type 8.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ACTTGCTGACGTCTGCGCCCA	0.468																																					Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(2323-2325)gaC>gaT		Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.		G		0,4152		0,0,2076	95.0	101.0	99.0		2325	4.7	1.0	21		99	1,8507		0,1,4253	no	coding-synonymous	DSCAM	NM_001389.3		0,1,6329	AA,AG,GG		0.0118,0.0,0.0079		775/2013	41648055	1,12659	2076	4254	6330	SO:0001819	synonymous_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41648055G>A	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.2325C>T	21.37:g.41648055G>A			Somatic				DSCAM_uc002yyr.1_Non-coding_Transcript	p.D775D	NM_001389	NP_001380	WXS	Illumina GAIIx	Phase_I	O60469	DSCAM_HUMAN			10	2777	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	775			Ig-like C2-type 8.		O60468	Silent	SNP	ENST00000400454.1	37	c.2325C>T	CCDS42929.1																																																																																				0.468	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		5	92	0	0	0	1	0	5	92				
GPR156	165829	broad.mit.edu	37	3	119886716	119886716	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr3:119886716C>A	ENST00000464295.1	-	10	2053	c.1608G>T	c.(1606-1608)gaG>gaT	p.E536D	GPR156_ENST00000461057.1_Missense_Mutation_p.E532D|GPR156_ENST00000315843.3_Missense_Mutation_p.E536D			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	536						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		GTGACCGCCGCTCTGGGGGCT	0.592																																						uc011bjf.2																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32						c.(1606-1608)gaG>gaT		Homo sapiens G protein-coupled receptor 156 (GPR156), transcript variant 1, mRNA.							101.0	121.0	114.0					3																	119886716		2202	4300	6502	SO:0001583	missense	165829					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr3:119886716C>A	AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"""GPCR / Class C : Orphans"""	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.1608G>T	3.37:g.119886716C>A	ENSP00000417261:p.Glu536Asp		Somatic				GPR156_uc011bjg.2_Missense_Mutation_p.E532D	p.E536D	NM_153002	NP_694547	WXS	Illumina GAIIx	Phase_I	Q8NFN8	GP156_HUMAN		GBM - Glioblastoma multiforme(114;0.19)	8	1988	-			536					B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Missense_Mutation	SNP	ENST00000464295.1	37	c.1608G>T	CCDS2997.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.213543	0.39102	.	.	ENSG00000175697	ENST00000464295;ENST00000315843;ENST00000461057	T;T;T	0.27557	1.66;1.66;1.66	5.28	3.49	0.39957	.	1.012330	0.07924	N	0.976416	T	0.27832	0.0685	L	0.56769	1.78	0.09310	N	1	P;P	0.38922	0.651;0.651	B;B	0.27608	0.081;0.081	T	0.13899	-1.0492	9	.	.	.	0.5253	10.6155	0.45447	0.0:0.8465:0.0:0.1535	.	532;536	E9PFZ4;Q8NFN8	.;GP156_HUMAN	D	536;536;532	ENSP00000417261:E536D;ENSP00000324553:E536D;ENSP00000418758:E532D	.	E	-	3	2	GPR156	121369406	0.073000	0.21202	0.002000	0.10522	0.013000	0.08279	1.260000	0.32968	0.804000	0.34136	0.563000	0.77884	GAG		0.592	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355139.1	NM_153002		6	315	0	0	0	1	0	6	315				
INHBA	3624	broad.mit.edu	37	7	41739665	41739665	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr7:41739665A>G	ENST00000242208.4	-	2	554	c.308T>C	c.(307-309)aTa>aCa	p.I103T	AC005027.3_ENST00000416150.1_RNA|INHBA-AS1_ENST00000420821.1_RNA|INHBA-AS1_ENST00000415848.2_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.I103T|INHBA-AS1_ENST00000422822.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	103					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GTCATCCTCTATCTCCACATA	0.542										TSP Lung(11;0.080)																												uc003thq.3																			0				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(307-309)aTa>aCa		Homo sapiens inhibin, beta A (INHBA), mRNA.							323.0	327.0	326.0					7																	41739665		2203	4300	6503	SO:0001583	missense	3624				G1/S transition of mitotic cell cycle|cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	g.chr7:41739665A>G		CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"""Endogenous ligands"""	6066	protein-coding gene	gene with protein product		147290	"""inhibin, beta A (activin A, activin AB alpha polypeptide)"""			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.308T>C	7.37:g.41739665A>G	ENSP00000242208:p.Ile103Thr	TSP Lung(11;0.080)	Somatic				INHBA-AS1_uc003tht.4_Intron|INHBA_uc003thr.3_Missense_Mutation_p.I103T|INHBA-AS1_uc003ths.2_Intron	p.I103T	NM_002192	NP_002183	WXS	Illumina GAIIx	Phase_I	P08476	INHBA_HUMAN			0	543	-			103					Q14599	Missense_Mutation	SNP	ENST00000242208.4	37	c.308T>C	CCDS5464.1	.	.	.	.	.	.	.	.	.	.	A	16.02	3.004573	0.54254	.	.	ENSG00000122641	ENST00000242208;ENST00000442711	T;T	0.64803	-0.12;-0.12	5.49	5.49	0.81192	Transforming growth factor-beta, N-terminal (1);	0.450164	0.25130	N	0.032919	T	0.59918	0.2229	L	0.58101	1.795	0.58432	D	0.999997	B	0.23377	0.084	B	0.20384	0.029	T	0.57100	-0.7869	10	0.38643	T	0.18	-4.4589	15.5949	0.76572	1.0:0.0:0.0:0.0	.	103	P08476	INHBA_HUMAN	T	103	ENSP00000242208:I103T;ENSP00000397197:I103T	ENSP00000242208:I103T	I	-	2	0	INHBA	41706190	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.170000	0.77587	2.083000	0.62718	0.533000	0.62120	ATA		0.542	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250793.1			6	535	0	0	0	1	0	6	535				
FRYL	285527	broad.mit.edu	37	4	48501632	48501632	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr4:48501632A>G	ENST00000503238.1	-	61	8848	c.8849T>C	c.(8848-8850)aTa>aCa	p.I2950T	FRYL_ENST00000537810.1_Missense_Mutation_p.I2950T|FRYL_ENST00000507873.2_Missense_Mutation_p.I340T|FRYL_ENST00000358350.4_Missense_Mutation_p.I2950T|FRYL_ENST00000264319.7_Missense_Mutation_p.I340T			O94915	FRYL_HUMAN	FRY-like	2950					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ATGGAAATATATATGTAACAG	0.418																																						uc003gyh.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(8848-8850)aTa>aCa		Homo sapiens FRY-like (FRYL), mRNA.							121.0	115.0	117.0					4																	48501632		1867	4107	5974	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48501632A>G	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.8849T>C	4.37:g.48501632A>G	ENSP00000426064:p.Ile2950Thr		Somatic				FRYL_uc003gye.1_Missense_Mutation_p.I132T|FRYL_uc003gyf.1_Missense_Mutation_p.I340T|FRYL_uc003gyg.1_Missense_Mutation_p.I1640T	p.I2950T	NM_015030	NP_055845	WXS	Illumina GAIIx	Phase_I	O94915	FRYL_HUMAN			63	9454	-			2950					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.8849T>C	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	A	18.48	3.632408	0.67015	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000264319;ENST00000507873	T;T;T	0.27104	1.7;1.7;1.69	5.63	5.63	0.86233	.	0.000000	0.64402	U	0.000001	T	0.49558	0.1564	M	0.62723	1.935	0.80722	D	1	P;D;D	0.89917	0.945;0.982;1.0	P;D;D	0.87578	0.83;0.918;0.998	T	0.50642	-0.8804	10	0.72032	D	0.01	.	15.8208	0.78644	1.0:0.0:0.0:0.0	.	2950;2950;340	O94915;F5GX82;O94915-2	FRYL_HUMAN;.;.	T	2950;2950;2950;340;340	ENSP00000426064:I2950T;ENSP00000351113:I2950T;ENSP00000441114:I2950T	ENSP00000264319:I340T	I	-	2	0	FRYL	48196389	1.000000	0.71417	0.914000	0.36105	0.698000	0.40448	9.335000	0.96500	2.136000	0.66102	0.397000	0.26171	ATA		0.418	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			4	98	0	0	0	1	0	4	98				
SLC12A6	9990	broad.mit.edu	37	15	34537938	34537938	+	Silent	SNP	G	G	A			TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr15:34537938G>A	ENST00000354181.3	-	14	2272	c.1780C>T	c.(1780-1782)Ctg>Ttg	p.L594L	SLC12A6_ENST00000397707.2_Silent_p.L579L|SLC12A6_ENST00000558589.1_Silent_p.L585L|SLC12A6_ENST00000558667.1_Silent_p.L594L|SLC12A6_ENST00000451844.2_Silent_p.L406L|SLC12A6_ENST00000397702.2_Silent_p.L535L|SLC12A6_ENST00000458406.2_Silent_p.L535L|SLC12A6_ENST00000560164.1_Silent_p.L406L|SLC12A6_ENST00000560611.1_Silent_p.L594L|SLC12A6_ENST00000290209.5_Silent_p.L543L			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	594					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	GCTTGTAGCAGCCTCGGTGCA	0.473																																						uc001zhw.3																			0				central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45						c.(1780-1782)Ctg>Ttg		Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 6 (SLC12A6), transcript variant 1, mRNA.	Potassium Chloride(DB00761)						84.0	75.0	78.0					15																	34537938		2201	4298	6499	SO:0001819	synonymous_variant	9990				angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity	g.chr15:34537938G>A	AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"""Solute carriers"""	10914	protein-coding gene	gene with protein product		604878	"""agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"""	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.1780C>T	15.37:g.34537938G>A			Somatic				SLC12A6_uc001zhv.3_Silent_p.L543L|SLC12A6_uc001zhz.3_Non-coding_Transcript|SLC12A6_uc001zhx.3_Silent_p.L579L|SLC12A6_uc001zhy.3_Non-coding_Transcript|SLC12A6_uc001zia.3_Silent_p.L535L|SLC12A6_uc001zib.3_Silent_p.L585L|SLC12A6_uc001zic.3_Silent_p.L594L|SLC12A6_uc010bau.3_Silent_p.L594L|SLC12A6_uc001zid.3_Silent_p.L535L|SLC12A6_uc001zht.3_Non-coding_Transcript|SLC12A6_uc001zhu.3_Silent_p.L406L	p.L594L	NM_133647	NP_598408	WXS	Illumina GAIIx	Phase_I	Q9UHW9	S12A6_HUMAN		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	12	1944	-		all_lung(180;2.78e-08)	594					A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Silent	SNP	ENST00000354181.3	37	c.1780C>T	CCDS58352.1																																																																																				0.473	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135		5	89	0	0	0	1	0	5	89				
PAWR	5074	broad.mit.edu	37	12	80083954	80083954	+	Frame_Shift_Del	DEL	T	T	-	rs200495794		TCGA-EM-A3AL-01A-11D-A202-08	TCGA-EM-A3AL-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	248fd0ed-f14c-40b8-9f14-e9c7adf16e22	876b9a95-f58f-427b-bfd1-6919adda895d	g.chr12:80083954delT	ENST00000328827.4	-	2	443	c.71delA	c.(70-72)aagfs	p.K24fs	RP11-530C5.1_ENST00000551995.1_lincRNA|PAWR_ENST00000547571.1_5'Flank	NM_002583.2	NP_002574.2	Q96IZ0	PAWR_HUMAN	PRKC, apoptosis, WT1, regulator	24					actin filament bundle assembly (GO:0051017)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|interleukin-2 biosynthetic process (GO:0042094)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|positive regulation of apoptotic process (GO:0043065)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|enzyme binding (GO:0019899)|leucine zipper domain binding (GO:0043522)|transcription corepressor activity (GO:0003714)			NS(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						GCGTTTCGCCTTCCACTCCTC	0.731																																						uc001syx.3																			0				NS(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						c.(70-72)aagfs		Homo sapiens PRKC, apoptosis, WT1, regulator (PAWR), mRNA.							3.0	4.0	4.0					12																	80083954		2049	4081	6130	SO:0001589	frameshift_variant	5074				actin filament bundle assembly|apoptosis|induction of apoptosis|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	actin binding|enzyme binding|leucine zipper domain binding|transcription corepressor activity	g.chr12:80083954delT	U63809	CCDS31863.1	12q21.2	2013-03-07			ENSG00000177425	ENSG00000177425			8614	protein-coding gene	gene with protein product	"""prostate apoptosis response-4"""	601936				8943350, 9790775	Standard	NM_002583		Approved	par-4, PAR4	uc001syx.3	Q96IZ0	OTTHUMG00000170080	ENST00000328827.4:c.71delA	12.37:g.80083954delT	ENSP00000328088:p.Lys24fs		Somatic					p.K24fs	NM_002583	NP_002574	WXS	Illumina GAIIx	Phase_I	Q96IZ0	PAWR_HUMAN			1	357	-			24					O75796|Q6FHY9|Q8N700	Frame_Shift_Del	DEL	ENST00000328827.4	37	c.71delA	CCDS31863.1																																																																																				0.731	PAWR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407175.1	NM_002583		2	4						2	4	---	---	---	---
