#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
DNMT3A	1788	broad.mit.edu	37	2	25467186	25467186	+	Silent	SNP	C	C	T			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr2:25467186C>T	ENST00000264709.3	-	15	2026	c.1689G>A	c.(1687-1689)gtG>gtA	p.V563V	DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000402667.1_Silent_p.V340V|DNMT3A_ENST00000380746.4_Silent_p.V374V|DNMT3A_ENST00000321117.5_Silent_p.V563V	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	563	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.V563V(1)|p.V374V(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAAGAGGTCCACACACTCCA	0.627			"""Mis, F, N, S"""		AML																																	ENST00000264709.3				Rec	yes		2	2p23	1788	"""Mis, F, N, S"""	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		2	Substitution - coding silent(2)	p.V563V(1)|p.V374V(1)	prostate(2)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021						c.(1687-1689)gtG>gtA		DNA (cytosine-5-)-methyltransferase 3 alpha							15.0	18.0	17.0					2																	25467186		2203	4297	6500	SO:0001819	synonymous_variant	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25467186C>T		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1689G>A	2.37:g.25467186C>T						DNMT3A_ENST00000380746.4_Silent_p.V374V|DNMT3A_ENST00000402667.1_Silent_p.V340V|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000321117.5_Silent_p.V563V	p.V563V	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN			15	2026	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		563			ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Silent	SNP	ENST00000264709.3	37	c.1689G>A	CCDS33157.1																																																																																				0.627	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		8	27	0	0	0	1	0	8	27				
NBPF3	84224	broad.mit.edu	37	1	21808232	21808232	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr1:21808232G>A	ENST00000318249.5	+	13	1926	c.1576G>A	c.(1576-1578)Gaa>Aaa	p.E526K	NBPF3_ENST00000454000.2_Missense_Mutation_p.E456K|NBPF3_ENST00000342104.5_Missense_Mutation_p.E514K|NBPF3_ENST00000318220.6_Missense_Mutation_p.E470K	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	526	NBPF 4. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.E526K(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ATTGGAGGAAGAACACGTTGG	0.458																																						ENST00000318220.6																			1	Substitution - Missense(1)	p.E526K(1)	prostate(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20						c.(1408-1410)Gaa>Aaa		neuroblastoma breakpoint family, member 3							37.0	31.0	33.0					1																	21808232		2188	4283	6471	SO:0001583	missense	84224					cytoplasm		g.chr1:21808232G>A	BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"""neuroblastoma breakpoint family"""	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.1576G>A	1.37:g.21808232G>A	ENSP00000316782:p.Glu526Lys					NBPF3_ENST00000454000.2_Missense_Mutation_p.E456K|NBPF3_ENST00000342104.5_Missense_Mutation_p.E514K|NBPF3_ENST00000318249.5_Missense_Mutation_p.E526K	p.E470K			Q9H094	NBPF3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	16	2456	+		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	526			NBPF 4.|Poly-Glu.		A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Missense_Mutation	SNP	ENST00000318249.5	37	c.1408G>A	CCDS216.1	.	.	.	.	.	.	.	.	.	.	.	0.018	-1.468345	0.01053	.	.	ENSG00000142794	ENST00000454000;ENST00000318220;ENST00000318249;ENST00000342104;ENST00000434838	T;T;T;T;T	0.05925	3.37;3.37;3.37;3.37;3.37	0.583	-1.17	0.09648	DUF1220 (2);	.	.	.	.	T	0.03053	0.0090	N	0.22421	0.69	0.09310	N	1	B;B;B	0.28128	0.011;0.201;0.0	B;B;B	0.18561	0.022;0.021;0.001	T	0.40813	-0.9543	8	0.25751	T	0.34	.	.	.	.	.	456;514;526	B4DSP2;Q9H094-3;Q9H094	.;.;NBPF3_HUMAN	K	456;470;526;514;470	ENSP00000415711:E456K;ENSP00000316739:E470K;ENSP00000316782:E526K;ENSP00000340336:E514K;ENSP00000391865:E470K	ENSP00000316739:E470K	E	+	1	0	NBPF3	21680819	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.194000	0.00563	-2.688000	0.00405	-2.368000	0.00236	GAA		0.458	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		16	39	0	0	0	1	0	16	39				
CLEC18B	497190	broad.mit.edu	37	16	74455141	74455141	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr16:74455141G>A	ENST00000339953.5	-	1	149	c.28C>T	c.(28-30)Cgg>Tgg	p.R10W	RP11-252A24.5_ENST00000566506.1_RNA|RP11-252A24.5_ENST00000567148.1_RNA	NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	10						extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)	p.R10W(1)		endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AGATGCCCCCGGCCAGGGGAG	0.677																																						ENST00000339953.5																			1	Substitution - Missense(1)	p.R10W(1)	prostate(1)	endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(28-30)Cgg>Tgg		C-type lectin domain family 18, member B							33.0	42.0	39.0					16																	74455141		2196	4292	6488	SO:0001583	missense	497190					extracellular region	sugar binding	g.chr16:74455141G>A	AY358373	CCDS32484.1	16q22.3	2010-04-27	2009-03-10	2009-03-10		ENSG00000140839		"""C-type lectin domain containing"""	33849	protein-coding gene	gene with protein product							Standard	NM_001011880		Approved		uc002fct.3	Q6UXF7		ENST00000339953.5:c.28C>T	16.37:g.74455141G>A	ENSP00000341051:p.Arg10Trp						p.R10W	NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN			1	149	-			10					B4DF90	Missense_Mutation	SNP	ENST00000339953.5	37	c.28C>T	CCDS32484.1	.	.	.	.	.	.	.	.	.	.	g	10.09	1.253756	0.22965	.	.	ENSG00000140839	ENST00000429489;ENST00000339953;ENST00000268492;ENST00000425714	T	0.23754	1.89	2.53	-0.718	0.11205	.	2.659970	0.01411	N	0.014018	T	0.14356	0.0347	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.25813	-1.0121	10	0.49607	T	0.09	.	5.9628	0.19308	0.3058:0.0:0.6942:0.0	.	10;10;10	Q6UXF7-2;C9JSV1;Q6UXF7	.;.;CL18B_HUMAN	W	10	ENSP00000341051:R10W	ENSP00000268492:R10W	R	-	1	2	CLEC18B	73012642	0.000000	0.05858	0.002000	0.10522	0.359000	0.29487	-0.054000	0.11826	-0.107000	0.12088	0.423000	0.28283	CGG		0.677	CLEC18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434697.1	NM_001011880		12	115	0	0	0	1	0	12	115				
CD8A	925	broad.mit.edu	37	2	87015654	87015654	+	Splice_Site	SNP	G	G	A			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr2:87015654G>A	ENST00000409511.2	-	8	1685	c.655C>T	c.(655-657)Cgg>Tgg	p.R219W	CD8A_ENST00000409781.1_Splice_Site_p.R182W|CD8A_ENST00000283635.3_Splice_Site_p.R219W|CD8A_ENST00000456996.2_Splice_Site_p.R182W|CD8A_ENST00000538832.1_Splice_Site_p.R260W|CD8A_ENST00000352580.3_Splice_Site_p.R182W	NM_001145873.1	NP_001139345.1	P01732	CD8A_HUMAN	CD8a molecule	219					antigen processing and presentation (GO:0019882)|cytotoxic T cell differentiation (GO:0045065)|defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of calcium-mediated signaling (GO:0050850)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|T cell mediated immunity (GO:0002456)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)	p.R219W(1)		lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						GAGACTCACCGGGGACATTTG	0.507																																						ENST00000409511.2																			1	Substitution - Missense(1)	p.R219W(1)	prostate(1)	lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						c.e8+1		CD8a molecule							55.0	53.0	54.0					2																	87015654		2203	4300	6503	SO:0001630	splice_region_variant	925				antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding	g.chr2:87015654G>A		CCDS1992.1, CCDS1993.1	2p12	2014-09-17	2006-03-28		ENSG00000153563	ENSG00000153563		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1706	protein-coding gene	gene with protein product		186910	"""CD8 antigen, alpha polypeptide (p32)"", ""T-cell surface glycoprotein CD8 alpha chain"""	CD8		1541829	Standard	NM_171827		Approved		uc002sru.3	P01732	OTTHUMG00000130265	ENST00000409511.2:c.656+1C>T	2.37:g.87015654G>A						CD8A_ENST00000409781.1_Splice_Site_p.R182_splice|CD8A_ENST00000538832.1_Splice_Site_p.R260_splice|CD8A_ENST00000283635.3_Splice_Site_p.R219_splice|CD8A_ENST00000456996.2_Splice_Site_p.R182_splice|CD8A_ENST00000352580.3_Splice_Site_p.R182_splice	p.R219_splice	NM_001145873.1	NP_001139345.1	P01732	CD8A_HUMAN			8	1685	-			219					B4DT80|D6W5M8|Q13970|Q4ZG17	Splice_Site	SNP	ENST00000409511.2	37	c.656_splice	CCDS1992.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.733376	0.69189	.	.	ENSG00000153563	ENST00000456996;ENST00000352580;ENST00000283635;ENST00000409511;ENST00000442577;ENST00000538832;ENST00000409781	D;D;D;D;D;D	0.86497	-2.13;-2.13;-1.55;-1.55;-1.61;-1.53	4.95	2.55	0.30701	.	0.109676	0.64402	D	0.000010	D	0.92443	0.7601	M	0.83012	2.62	0.42552	D	0.993116	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.998	D	0.91550	0.5256	10	0.87932	D	0	-33.8792	9.4433	0.38681	0.0:0.0:0.3536:0.6464	.	260;182;219	B4DT80;P01732-2;P01732	.;.;CD8A_HUMAN	W	182;182;219;219;204;260;182	ENSP00000398868:R182W;ENSP00000321631:R182W;ENSP00000283635:R219W;ENSP00000386559:R219W;ENSP00000438371:R260W;ENSP00000387314:R182W	ENSP00000283635:R219W	R	-	1	2	CD8A	86869165	0.994000	0.37717	0.996000	0.52242	0.864000	0.49448	0.752000	0.26362	0.450000	0.26774	-1.527000	0.00925	CGG		0.507	CD8A-006	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330784.3	NM_001768	Missense_Mutation	5	21	0	0	0	1	0	5	21				
CTNNAL1	8727	broad.mit.edu	37	9	111735029	111735029	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr9:111735029C>T	ENST00000325551.4	-	9	1359	c.1273G>A	c.(1273-1275)Gga>Aga	p.G425R	CTNNAL1_ENST00000374595.4_Missense_Mutation_p.G425R|CTNNAL1_ENST00000488130.1_5'UTR|CTNNAL1_ENST00000325580.6_Intron	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	425					cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)	p.G425R(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		CCTTCTACTCCAGTAAGTTTT	0.398																																						ENST00000374595.4																			1	Substitution - Missense(1)	p.G425R(1)	prostate(1)	cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25						c.(1273-1275)Gga>Aga		catenin (cadherin-associated protein), alpha-like 1							111.0	112.0	112.0					9																	111735029		2203	4300	6503	SO:0001583	missense	8727				cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity	g.chr9:111735029C>T	AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"""alpha-catulin"", ""alpha2-catulin"""	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.1273G>A	9.37:g.111735029C>T	ENSP00000320434:p.Gly425Arg					CTNNAL1_ENST00000325551.4_Missense_Mutation_p.G425R|CTNNAL1_ENST00000488130.1_5'UTR|CTNNAL1_ENST00000325580.6_Intron	p.G425R			Q9UBT7	CTNL1_HUMAN		STAD - Stomach adenocarcinoma(157;0.0768)	9	1352	-			425					B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Missense_Mutation	SNP	ENST00000325551.4	37	c.1273G>A	CCDS6775.1	.	.	.	.	.	.	.	.	.	.	C	34	5.317646	0.95682	.	.	ENSG00000119326	ENST00000374595;ENST00000325551	T;T	0.47528	0.84;0.84	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.69797	0.3151	M	0.70595	2.14	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.991;1.0	T	0.69767	-0.5056	10	0.72032	D	0.01	-20.019	18.3732	0.90420	0.0:1.0:0.0:0.0	.	425;425;425	B2RBI4;Q9UBT7-2;Q9UBT7	.;.;CTNL1_HUMAN	R	425	ENSP00000363723:G425R;ENSP00000320434:G425R	ENSP00000320434:G425R	G	-	1	0	CTNNAL1	110774850	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.336000	0.79245	2.941000	0.99782	0.655000	0.94253	GGA		0.398	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053577.1	NM_003798		29	107	0	0	0	1	0	29	107				
MYL6	4637	broad.mit.edu	37	12	56552380	56552380	+	Intron	SNP	G	G	A			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr12:56552380G>A	ENST00000550697.1	+	2	244				MYL6_ENST00000547649.1_Intron|RP11-603J24.14_ENST00000548731.1_RNA|MYL6_ENST00000548400.1_Intron|MYL6_ENST00000548580.1_Intron|MYL6_ENST00000551589.1_Intron|MYL6_ENST00000549566.1_Silent_p.Q65Q|MYL6_ENST00000549017.1_Intron|MYL6_ENST00000536128.1_Silent_p.Q65Q|MYL6_ENST00000293422.5_Intron|MYL6_ENST00000548293.1_Intron|MYL6_ENST00000348108.4_Intron|MYL6_ENST00000547408.1_Intron	NM_021019.4	NP_066299.2	P60660	MYL6_HUMAN	myosin, light chain 6, alkali, smooth muscle and non-muscle						ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle tissue development (GO:0007519)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|unconventional myosin complex (GO:0016461)|vesicle (GO:0031982)	actin-dependent ATPase activity (GO:0030898)|calcium ion binding (GO:0005509)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			TTGTGGGTCAGAGTTTGTGGG	0.562																																						ENST00000536128.1																			0				large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7						c.(193-195)caG>caA		myosin, light chain 6, alkali, smooth muscle and non-muscle																																				SO:0001627	intron_variant	4637				axon guidance|muscle filament sliding|skeletal muscle tissue development	cytosol|unconventional myosin complex	actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle	g.chr12:56552380G>A	AB046613	CCDS8906.1, CCDS31834.1	12q13.13	2013-01-10	2006-09-29			ENSG00000092841		"""Myosins / Light chain"", ""EF-hand domain containing"""	7587	protein-coding gene	gene with protein product		609931	"""myosin, light polypeptide 6, alkali, smooth muscle and non-muscle"""			8188229, 2304459, 2722814	Standard	NM_021019		Approved	ESMLC, MLC3NM, MLC1SM	uc001sjx.2	P60660		ENST00000550697.1:c.4-88G>A	12.37:g.56552380G>A						MYL6_ENST00000548580.1_Intron|MYL6_ENST00000550697.1_Intron|MYL6_ENST00000547649.1_Intron|MYL6_ENST00000549017.1_Intron|MYL6_ENST00000547408.1_Intron|MYL6_ENST00000549566.1_Silent_p.Q65Q|MYL6_ENST00000548400.1_Intron|MYL6_ENST00000551589.1_Intron|MYL6_ENST00000548293.1_Intron|MYL6_ENST00000293422.5_Intron|MYL6_ENST00000348108.4_Intron|RP11-603J24.18_ENST00000548571.1_RNA	p.Q65Q			P60660	MYL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.0979)		1	235	+			0					P16475|P24572|P24573|Q12790|Q561V9|Q6IAZ0|Q6IPY5	Silent	SNP	ENST00000550697.1	37	c.195G>A	CCDS8906.1																																																																																				0.562	MYL6-003	KNOWN	NAGNAG_splice_site|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407928.3			31	142	0	0	0	1	0	31	142				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						ENST00000342960.5																			4	Substitution - coding silent(4)	p.K3445K(4)	prostate(3)|kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10333-10335)aaA>aaG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.K3445K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10370	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10335A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		4	106	0	0	0	1	0	4	106				
MSRA	4482	broad.mit.edu	37	8	10285774	10285774	+	Silent	SNP	C	C	T			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr8:10285774C>T	ENST00000317173.4	+	6	909	c.660C>T	c.(658-660)tgC>tgT	p.C220C	MSRA_ENST00000528246.1_Silent_p.C154C|MSRA_ENST00000382490.5_Silent_p.C177C|MSRA_ENST00000441698.2_Silent_p.C180C	NM_012331.3	NP_036463.1	Q9UJ68	MSRA_HUMAN	methionine sulfoxide reductase A	220					cellular protein modification process (GO:0006464)|methionine metabolic process (GO:0006555)|protein repair (GO:0030091)|response to oxidative stress (GO:0006979)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	peptide-methionine (S)-S-oxide reductase activity (GO:0008113)			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4)	8		Myeloproliferative disorder(644;0.178)			L-Methionine(DB00134)	ATGGCTACTGCGGCCTTGGGG	0.532																																					NSCLC(88;1378 1469 30580 49103 52286)	ENST00000528246.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4)	8						c.(460-462)tgC>tgT		methionine sulfoxide reductase A	L-Methionine(DB00134)						63.0	59.0	61.0					8																	10285774		2203	4300	6503	SO:0001819	synonymous_variant	4482				methionine metabolic process|protein modification process|response to oxidative stress	mitochondrion|nucleus	peptide-methionine-(S)-S-oxide reductase activity	g.chr8:10285774C>T	BC054033	CCDS5975.1, CCDS47798.1, CCDS47799.1, CCDS56522.1	8p23.1	2009-07-10			ENSG00000175806	ENSG00000175806	1.8.4.11		7377	protein-coding gene	gene with protein product		601250				10452521	Standard	NM_012331		Approved		uc003wsx.3	Q9UJ68	OTTHUMG00000090517	ENST00000317173.4:c.660C>T	8.37:g.10285774C>T						MSRA_ENST00000382490.5_Silent_p.C177C|MSRA_ENST00000317173.4_Silent_p.C220C|MSRA_ENST00000441698.2_Silent_p.C180C	p.C154C	NM_001199729.1	NP_001186658.1	Q9UJ68	MSRA_HUMAN			7	1085	+		Myeloproliferative disorder(644;0.178)	220					E9PAS8|Q52TC4|Q549N4|Q66MI7	Silent	SNP	ENST00000317173.4	37	c.462C>T	CCDS5975.1																																																																																				0.532	MSRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207005.1	NM_012331		3	57	0	0	0	1	0	3	57				
TMC3	342125	broad.mit.edu	37	15	81636301	81636301	+	Missense_Mutation	SNP	C	C	T	rs369492533		TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr15:81636301C>T	ENST00000359440.5	-	14	1739	c.1604G>A	c.(1603-1605)cGg>cAg	p.R535Q	RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000558726.1_Missense_Mutation_p.R536Q|RP11-761I4.3_ENST00000559277.1_RNA|RP11-761I4.3_ENST00000560973.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3											autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						ACTTAAGTACCGCACGAAAAG	0.468																																						ENST00000558726.1																			0				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						c.(1606-1608)cGg>cAg		transmembrane channel-like 3		C	GLN/ARG	0,3970		0,0,1985	84.0	80.0	82.0		1604	5.5	0.4	15		82	1,8345		0,1,4172	no	missense	TMC3	NM_001080532.1	43	0,1,6157	TT,TC,CC		0.012,0.0,0.0081	probably-damaging	535/1101	81636301	1,12315	1985	4173	6158	SO:0001583	missense	342125					integral to membrane		g.chr15:81636301C>T	AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.1604G>A	15.37:g.81636301C>T	ENSP00000352413:p.Arg535Gln					RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA|TMC3_ENST00000359440.5_Missense_Mutation_p.R535Q	p.R536Q			Q7Z5M5	TMC3_HUMAN			14	1742	-			535						Missense_Mutation	SNP	ENST00000359440.5	37	c.1607G>A	CCDS45324.1	.	.	.	.	.	.	.	.	.	.	C	36	5.680488	0.96774	0.0	1.2E-4	ENSG00000188869	ENST00000359440	T	0.63913	-0.07	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.80869	0.4706	M	0.77616	2.38	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.82676	-0.0339	10	0.72032	D	0.01	-29.4692	19.3572	0.94420	0.0:1.0:0.0:0.0	.	535;535	Q7Z5M5-2;Q7Z5M5	.;TMC3_HUMAN	Q	535	ENSP00000352413:R535Q	ENSP00000352413:R535Q	R	-	2	0	TMC3	79423356	1.000000	0.71417	0.435000	0.26784	0.971000	0.66376	7.456000	0.80751	2.552000	0.86080	0.585000	0.79938	CGG		0.468	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841		7	48	0	0	0	1	0	7	48				
NPIPA5	100288332	broad.mit.edu	37	16	15457701	15457701	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr16:15457701G>A	ENST00000360151.4	-	8	867	c.868C>T	c.(868-870)Ctc>Ttc	p.L290F		NM_001277325.1	NP_001264254.1	E9PKD4	NPIA5_HUMAN	nuclear pore complex interacting protein family, member A5	290	Pro-rich.							p.L290F(2)									AGGGGAGTGAGCAGACACTCG	0.562																																						ENST00000360151.4																			2	Substitution - Missense(2)	p.L290F(2)	kidney(2)								c.(868-870)Ctc>Ttc		nuclear pore complex interacting protein family, member A5																																				SO:0001583	missense	100288332							g.chr16:15457701G>A		CCDS59264.1	16p13.11	2013-06-11			ENSG00000183793	ENSG00000183793			41980	protein-coding gene	gene with protein product							Standard	NM_001277325		Approved			E9PKD4	OTTHUMG00000166305	ENST00000360151.4:c.868C>T	16.37:g.15457701G>A	ENSP00000433597:p.Leu290Phe						p.L290F	NM_001277325.1	NP_001264254.1					8	867	-								Q0P618	Missense_Mutation	SNP	ENST00000360151.4	37	c.868C>T	CCDS59264.1	.	.	.	.	.	.	.	.	.	.	.	4.044	0.005714	0.07866	.	.	ENSG00000183793	ENST00000360151	T	0.56275	0.47	.	.	.	.	.	.	.	.	T	0.52338	0.1728	M	0.62723	1.935	0.09310	N	1	.	.	.	.	.	.	T	0.44742	-0.9308	4	0.36615	T	0.2	.	.	.	.	.	.	.	.	F	290	ENSP00000433597:L290F	ENSP00000433597:L290F	L	-	1	0	RP11-82O18.1	15365202	.	.	.	.	.	.	.	.	.	.	.	.	CTC		0.562	NPIPA5-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389069.1			3	69	0	0	0	1	0	3	69				
CSE1L	1434	broad.mit.edu	37	20	47692015	47692015	+	Silent	SNP	C	C	T			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr20:47692015C>T	ENST00000262982.2	+	12	1416	c.1293C>T	c.(1291-1293)atC>atT	p.I431I	CSE1L_ENST00000396192.3_Silent_p.I375I|CSE1L_ENST00000542325.1_Silent_p.I214I	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	431					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)	p.I431I(1)		breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			ATGCAGCCATCTACCTAGTGA	0.403																																						ENST00000262982.2																			1	Substitution - coding silent(1)	p.I431I(1)	prostate(1)	breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35						c.(1291-1293)atC>atT		CSE1 chromosome segregation 1-like (yeast)							116.0	107.0	110.0					20																	47692015		2203	4300	6503	SO:0001819	synonymous_variant	1434				apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity	g.chr20:47692015C>T	U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"""Exportins"""	2431	protein-coding gene	gene with protein product	"""cellular apoptosis susceptibility"""	601342	"""chromosome segregation 1 (yeast homolog)-like"""			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.1293C>T	20.37:g.47692015C>T						CSE1L_ENST00000396192.3_Silent_p.I375I|CSE1L_ENST00000542325.1_Silent_p.I214I	p.I431I	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)		12	1416	+			431					A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Silent	SNP	ENST00000262982.2	37	c.1293C>T	CCDS13412.1																																																																																				0.403	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080345.2	NM_001316		4	100	0	0	0	1	0	4	100				
GLI2	2736	broad.mit.edu	37	2	121746685	121746685	+	Silent	SNP	C	C	T			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr2:121746685C>T	ENST00000452319.1	+	14	3255	c.3195C>T	c.(3193-3195)gaC>gaT	p.D1065D	GLI2_ENST00000314490.11_Silent_p.D737D|GLI2_ENST00000361492.4_Silent_p.D1065D					GLI family zinc finger 2									p.D1065D(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TTCCAGACGACGTGGTGCAGT	0.687																																						ENST00000452319.1																			1	Substitution - coding silent(1)	p.D1065D(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(3193-3195)gaC>gaT		GLI family zinc finger 2							40.0	43.0	42.0					2																	121746685		2203	4300	6503	SO:0001819	synonymous_variant	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121746685C>T		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.3195C>T	2.37:g.121746685C>T						GLI2_ENST00000361492.4_Silent_p.D1065D|GLI2_ENST00000314490.11_Silent_p.D737D	p.D1065D			P10070	GLI2_HUMAN			14	3255	+	Renal(3;0.0496)	Prostate(154;0.0623)	1065						Silent	SNP	ENST00000452319.1	37	c.3195C>T	CCDS33283.1																																																																																				0.687	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		7	93	0	0	0	1	0	7	93				
MT-CO1	4512	broad.mit.edu	37	M	3063	3063	+	5'Flank	SNP	G	G	A			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chrM:3063G>A	ENST00000361624.2	+	0	0				MT-RNR1_ENST00000389680.2_RNA|MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TW_ENST00000387382.1_RNA|MT-TF_ENST00000387314.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-ND2_ENST00000361453.3_5'Flank|MT-TC_ENST00000387405.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-TQ_ENST00000387372.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I						aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						AAAGTCCTACGTGATCTGAGT	0.448																																						ENST00000387347.2																			0																																																	SO:0001631	upstream_gene_variant	0							g.chrM:3063G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395			M.37:g.3063G>A	Exception_encountered							NR_039705.1						0	1393	+								Q34770	RNA	SNP	ENST00000361624.2	37																																																																																						0.448	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024028		9	26	0	0	0	1	0	9	26				
ADAMTS14	140766	broad.mit.edu	37	10	72500856	72500856	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr10:72500856G>A	ENST00000373207.1	+	12	1862	c.1862G>A	c.(1861-1863)cGc>cAc	p.R621H	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.R624H	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	621	Cys-rich.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R624H(2)		NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						TGTGCCAAGCGCAACTCCTAC	0.627																																						ENST00000373208.1																			2	Substitution - Missense(2)	p.R624H(2)	prostate(2)	NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1870-1872)cGc>cAc		ADAM metallopeptidase with thrombospondin type 1 motif, 14							77.0	66.0	70.0					10																	72500856		2203	4300	6503	SO:0001583	missense	140766				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr10:72500856G>A	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.1862G>A	10.37:g.72500856G>A	ENSP00000362303:p.Arg621His					ADAMTS14_ENST00000373207.1_Missense_Mutation_p.R621H	p.R624H	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN			12	1871	+			621			Cys-rich.		Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	ENST00000373207.1	37	c.1871G>A	CCDS7306.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.677371	0.68042	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.03496	3.91;3.91	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.05044	0.0135	N	0.19112	0.55	0.43965	D	0.996641	D;P;P	0.55605	0.972;0.899;0.953	P;B;B	0.47573	0.55;0.259;0.259	T	0.59852	-0.7376	10	0.24483	T	0.36	.	18.6905	0.91581	0.0:0.0:1.0:0.0	.	554;621;624	Q8WXS8-2;Q8WXS8;Q5T4G1	.;ATS14_HUMAN;.	H	624;621	ENSP00000362304:R624H;ENSP00000362303:R621H	ENSP00000362303:R621H	R	+	2	0	ADAMTS14	72170862	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.263000	0.95617	2.735000	0.93741	0.655000	0.94253	CGC		0.627	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		9	74	0	0	0	1	0	9	74				
MRPS30	10884	broad.mit.edu	37	5	44809374	44809374	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr5:44809374C>G	ENST00000507110.1	+	1	348	c.310C>G	c.(310-312)Cgc>Ggc	p.R104G	RP11-53O19.1_ENST00000505401.1_RNA|RP11-53O19.1_ENST00000514597.1_RNA|RP11-53O19.1_ENST00000505302.1_RNA|RP11-53O19.1_ENST00000503179.1_RNA|RP11-53O19.1_ENST00000508123.1_RNA|RP11-53O19.1_ENST00000508945.1_RNA|RP11-53O19.1_ENST00000503452.1_RNA|RP11-53O19.1_ENST00000505637.1_RNA	NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	104					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)	p.R104G(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					GAATGCCGACCGCTGGTACCA	0.617																																						ENST00000507110.1																			2	Substitution - Missense(2)	p.R104G(2)	prostate(2)	central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20						c.(310-312)Cgc>Ggc		mitochondrial ribosomal protein S30							31.0	33.0	32.0					5																	44809374		2203	4300	6503	SO:0001583	missense	10884				apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr5:44809374C>G	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.310C>G	5.37:g.44809374C>G	ENSP00000424328:p.Arg104Gly						p.R104G	NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN			1	348	+	Lung NSC(6;8.08e-07)		104					Q96I91|Q96Q19|Q9H0P8|Q9NSF9|Q9NZ76	Missense_Mutation	SNP	ENST00000507110.1	37	c.310C>G	CCDS3951.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.375777	0.61735	.	.	ENSG00000112996	ENST00000507110	T	0.19105	2.17	5.25	5.25	0.73442	.	0.095328	0.64402	D	0.000001	T	0.47229	0.1434	M	0.68952	2.095	0.58432	D	0.999997	D	0.89917	1.0	D	0.79108	0.992	T	0.32025	-0.9922	10	0.54805	T	0.06	-1.223	19.3941	0.94598	0.0:1.0:0.0:0.0	.	104	Q9NP92	RT30_HUMAN	G	104	ENSP00000424328:R104G	ENSP00000424328:R104G	R	+	1	0	MRPS30	44845131	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.641000	0.37197	2.885000	0.99019	0.655000	0.94253	CGC		0.617	MRPS30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214033.2	NM_016640		5	26	0	0	0	1	0	5	26				
MT-ND5	4540	broad.mit.edu	37	M	12773	12773	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chrM:12773G>A	ENST00000361567.2	+	1	437	c.437G>A	c.(436-438)gGc>gAc	p.G146D	MT-TG_ENST00000387429.1_RNA|MT-TR_ENST00000387439.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-TE_ENST00000387459.1_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	146			G -> D. {ECO:0000269|PubMed:1757091}.		cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						CGGCTGAGAGGGCGTAGGAAT	0.418																																						ENST00000361567.2																			0				breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						c.(436-438)gGc>gAc		mitochondrially encoded NADH dehydrogenase 5	NADH(DB00157)																																			SO:0001583	missense	4540				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chrM:12773G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.437G>A	M.37:g.12773G>A	ENSP00000354813:p.Gly146Asp						p.G146D			P03915	NU5M_HUMAN			1	437	+			146		G -> D.			Q34773|Q8WCY3	Missense_Mutation	SNP	ENST00000361567.2	37	c.437G>A																																																																																					0.418	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024036		6	20	0	0	0	1	0	6	20				
GPR78	27201	broad.mit.edu	37	4	8584289	8584289	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr4:8584289C>T	ENST00000382487.4	+	2	1117	c.700C>T	c.(700-702)Cgg>Tgg	p.R234W	GPR78_ENST00000509216.1_3'UTR	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	234					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R234W(1)		central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						CCAGCAGAAGCGGCGCCGCCA	0.637																																						ENST00000382487.4																			1	Substitution - Missense(1)	p.R234W(1)	prostate(1)	central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						c.(700-702)Cgg>Tgg		G protein-coupled receptor 78							98.0	85.0	89.0					4																	8584289		2203	4300	6503	SO:0001583	missense	27201				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr4:8584289C>T	AF411107	CCDS3403.1	4p16.1	2012-08-21			ENSG00000155269	ENSG00000155269		"""GPCR / Class A : Orphans"""	4528	protein-coding gene	gene with protein product		606921				11574155	Standard	NM_080819		Approved		uc003glk.4	Q96P69	OTTHUMG00000128483	ENST00000382487.4:c.700C>T	4.37:g.8584289C>T	ENSP00000371927:p.Arg234Trp					GPR78_ENST00000509216.1_3'UTR	p.R234W	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN			2	1117	+			234					Q8NGV3	Missense_Mutation	SNP	ENST00000382487.4	37	c.700C>T	CCDS3403.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.100099	0.37048	.	.	ENSG00000155269	ENST00000382487	T	0.42131	0.98	2.43	-2.1	0.07210	GPCR, rhodopsin-like superfamily (1);	0.244402	0.30556	U	0.009370	T	0.43188	0.1236	L	0.39898	1.24	0.09310	N	0.999998	D	0.89917	1.0	D	0.68621	0.959	T	0.40942	-0.9536	10	0.44086	T	0.13	.	4.3152	0.10990	0.5683:0.2058:0.0:0.2259	.	234	Q96P69	GPR78_HUMAN	W	234	ENSP00000371927:R234W	ENSP00000371927:R234W	R	+	1	2	GPR78	8635189	0.719000	0.27986	0.000000	0.03702	0.002000	0.02628	-0.015000	0.12634	-1.198000	0.02669	-0.309000	0.09137	CGG		0.637	GPR78-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359201.1			25	112	0	0	0	1	0	25	112				
IGSF9B	22997	broad.mit.edu	37	11	133790980	133790980	+	Silent	SNP	G	G	A	rs114264751	byFrequency	TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr11:133790980G>A	ENST00000321016.8	-	18	2870	c.2640C>T	c.(2638-2640)gcC>gcT	p.A880A	IGSF9B_ENST00000533871.2_Silent_p.A880A			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	880					homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.A336A(1)|p.A880A(1)		breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CCGTCTCCTCGGCGAAGGGGA	0.657													G|||	17	0.00339457	0.0129	0.0	5008	,	,		16556	0.0		0.0	False		,,,				2504	0.0					ENST00000321016.8																			2	Substitution - coding silent(2)	p.A336A(1)|p.A880A(1)	prostate(2)	breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(2638-2640)gcC>gcT		immunoglobulin superfamily, member 9B		G		50,4122		0,50,2036	77.0	88.0	84.0		2640	-9.2	0.0	11	dbSNP_132	84	0,8412		0,0,4206	no	coding-synonymous	IGSF9B	NM_014987.1		0,50,6242	AA,AG,GG		0.0,1.1985,0.3973		880/1350	133790980	50,12534	2086	4206	6292	SO:0001819	synonymous_variant	22997					integral to membrane|plasma membrane		g.chr11:133790980G>A	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.2640C>T	11.37:g.133790980G>A						IGSF9B_ENST00000533871.2_Silent_p.A880A	p.A880A			Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	18	2870	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	880					G5EA26	Silent	SNP	ENST00000321016.8	37	c.2640C>T																																																																																					0.657	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		26	100	0	0	0	1	0	26	100				
ENTHD2	146705	broad.mit.edu	37	17	79207799	79207799	+	Silent	SNP	C	C	T			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr17:79207799C>T	ENST00000300714.3	-	5	414	c.357G>A	c.(355-357)aaG>aaA	p.K119K	AC027601.1_ENST00000575922.1_RNA|ENTHD2_ENST00000374769.2_5'UTR|AC027601.1_ENST00000569559.1_RNA	NM_144679.2	NP_653280.1	Q96N21	AP4AT_HUMAN	ENTH domain containing 2	119	ENTH.					cytoplasmic vesicle (GO:0031410)		p.K119K(1)									CCGCGCGAACCTTCTGGTACA	0.662																																						ENST00000300714.3																			1	Substitution - coding silent(1)	p.K119K(1)	prostate(1)								c.(355-357)aaG>aaA		ENTH domain containing 2							24.0	26.0	25.0					17																	79207799		2203	4299	6502	SO:0001819	synonymous_variant	146705							g.chr17:79207799C>T	AK056090	CCDS11779.1	17q25.3	2012-07-18	2012-07-18	2012-07-18	ENSG00000167302	ENSG00000167302			26458	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 56"""	C17orf56			Standard	NM_144679		Approved	FLJ31528	uc002jzu.2	Q96N21	OTTHUMG00000177866	ENST00000300714.3:c.357G>A	17.37:g.79207799C>T						ENTHD2_ENST00000374769.2_5'UTR	p.K119K	NM_144679.2	NP_653280.1					5	414	-								Q6ZQU0|Q6ZSQ9	Silent	SNP	ENST00000300714.3	37	c.357G>A	CCDS11779.1																																																																																				0.662	ENTHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439315.1	NM_144679		4	39	0	0	0	1	0	4	39				
ANKH	56172	broad.mit.edu	37	5	14711313	14711313	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr5:14711313T>C	ENST00000284268.6	-	12	1802	c.1472A>G	c.(1471-1473)aAt>aGt	p.N491S	ANKH_ENST00000535119.1_Missense_Mutation_p.N293S	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	491					locomotory behavior (GO:0007626)|regulation of bone mineralization (GO:0030500)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	inorganic diphosphate transmembrane transporter activity (GO:0030504)|inorganic phosphate transmembrane transporter activity (GO:0005315)|phosphate ion transmembrane transporter activity (GO:0015114)	p.N491S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						GCCTTATTCATTCTCCTCTCT	0.532																																						ENST00000284268.6																			1	Substitution - Missense(1)	p.N491S(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(1471-1473)aAt>aGt		ANKH inorganic pyrophosphate transport regulator							272.0	229.0	244.0					5																	14711313		2203	4300	6503	SO:0001583	missense	56172				locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity	g.chr5:14711313T>C	AF274753	CCDS3885.1	5p15.2	2013-06-19	2013-06-19		ENSG00000154122	ENSG00000154122			15492	protein-coding gene	gene with protein product		605145	"""ankylosis, progressive (mouse) homolog"", ""craniometaphyseal dysplasia, Jackson type (dominant)"", ""ankylosis, progressive homolog (mouse)"""	CCAL2, CMDJ		10894769, 12297989, 11326338	Standard	NM_054027		Approved	HANK, ANK, CPPDD	uc003jfm.4	Q9HCJ1	OTTHUMG00000090539	ENST00000284268.6:c.1472A>G	5.37:g.14711313T>C	ENSP00000284268:p.Asn491Ser					ANKH_ENST00000535119.1_Missense_Mutation_p.N293S	p.N491S	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN			12	1802	-			491					B2RCA7|B3KMG4|D3DTD4|Q9NQW2	Missense_Mutation	SNP	ENST00000284268.6	37	c.1472A>G	CCDS3885.1	.	.	.	.	.	.	.	.	.	.	T	12.52	1.962263	0.34659	.	.	ENSG00000154122	ENST00000535119;ENST00000284268	D;D	0.95307	-3.1;-3.67	5.17	-0.144	0.13440	.	0.988098	0.08285	N	0.969322	D	0.83972	0.5370	N	0.08118	0	0.29232	N	0.873186	B	0.02656	0.0	B	0.01281	0.0	T	0.72050	-0.4407	10	0.13470	T	0.59	-43.6996	5.2204	0.15366	0.0:0.3084:0.1452:0.5464	.	491	Q9HCJ1	ANKH_HUMAN	S	293;491	ENSP00000442524:N293S;ENSP00000284268:N491S	ENSP00000284268:N491S	N	-	2	0	ANKH	14764313	0.371000	0.25056	0.039000	0.18376	0.998000	0.95712	0.667000	0.25112	-0.251000	0.09542	0.533000	0.62120	AAT		0.532	ANKH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207063.1	NM_054027		51	176	0	0	0	1	0	51	176				
SEC61A2	55176	broad.mit.edu	37	10	12200105	12200105	+	Splice_Site	SNP	G	G	A			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr10:12200105G>A	ENST00000298428.9	+	9	1064		c.e9+1		SEC61A2_ENST00000379020.4_Intron|SEC61A2_ENST00000304267.8_Splice_Site|SEC61A2_ENST00000495368.1_Splice_Site|SEC61A2_ENST00000379033.3_Splice_Site	NM_018144.3	NP_060614.2	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)						antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ribosome binding (GO:0043022)	p.?(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				ACAGTGGGCCGTGAGTATTAT	0.368																																						ENST00000379033.3																			1	Unknown(1)	p.?(1)	prostate(1)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.e8+1		Sec61 alpha 2 subunit (S. cerevisiae)							62.0	59.0	60.0					10																	12200105		2203	4300	6503	SO:0001630	splice_region_variant	55176					endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity	g.chr10:12200105G>A	AF346603	CCDS7088.1, CCDS44358.1, CCDS44359.1	10p14	2004-01-06			ENSG00000065665	ENSG00000065665			17702	protein-coding gene	gene with protein product							Standard	NM_018144		Approved	FLJ10578	uc001ile.2	Q9H9S3	OTTHUMG00000017679	ENST00000298428.9:c.975+1G>A	10.37:g.12200105G>A						SEC61A2_ENST00000304267.8_Splice_Site|SEC61A2_ENST00000495368.1_Splice_Site|SEC61A2_ENST00000379020.4_Intron|SEC61A2_ENST00000298428.9_Splice_Site		NM_001142628.1	NP_001136100.1	Q9H9S3	S61A2_HUMAN			8	1056	+		Renal(717;0.228)						A8K8D0|B4DX72|F8W773	Splice_Site	SNP	ENST00000298428.9	37		CCDS7088.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357693	0.82243	.	.	ENSG00000065665	ENST00000379033;ENST00000298428;ENST00000304267;ENST00000426560	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5031	0.90889	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SEC61A2	12240111	1.000000	0.71417	0.982000	0.44146	0.952000	0.60782	9.773000	0.98989	2.685000	0.91497	0.655000	0.94253	.		0.368	SEC61A2-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046795.1	NM_018144	Intron	10	45	0	0	0	1	0	10	45				
HS6ST1	9394	broad.mit.edu	37	2	129026419	129026419	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr2:129026419G>A	ENST00000259241.6	-	2	566	c.553C>T	c.(553-555)Cga>Tga	p.R185*		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	185	3'-phosphate binding. {ECO:0000255}.				angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|labyrinthine layer blood vessel development (GO:0060716)|lung alveolus development (GO:0048286)|neuron development (GO:0048666)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)|sulfotransferase activity (GO:0008146)	p.R185*(2)		endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		ACGGGGTCTCGTAGCAGGGTG	0.627																																						ENST00000259241.6																			2	Substitution - Nonsense(2)	p.R185*(2)	prostate(1)|pancreas(1)	endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15						c.(553-555)Cga>Tga		heparan sulfate 6-O-sulfotransferase 1																																				SO:0001587	stop_gained	9394				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity	g.chr2:129026419G>A	AB006179	CCDS42748.1	2q21	2010-03-19		2002-08-23	ENSG00000136720	ENSG00000136720		"""Sulfotransferases, membrane-bound"""	5201	protein-coding gene	gene with protein product		604846		HS6ST		9535912	Standard	NM_004807		Approved		uc002tpt.4	O60243	OTTHUMG00000153542	ENST00000259241.6:c.553C>T	2.37:g.129026419G>A	ENSP00000259241:p.Arg185*						p.R185*	NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	2	566	-	Colorectal(110;0.1)		185			3'-phosphate binding (Potential).		B4DEP2|B4DJ29|Q53SL2|Q9BVI1	Nonsense_Mutation	SNP	ENST00000259241.6	37	c.553C>T	CCDS42748.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.065652	0.76187	.	.	ENSG00000136720	ENST00000259241	.	.	.	4.85	2.8	0.32819	.	0.051973	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.284	0.49212	0.0:0.0:0.3759:0.6241	.	.	.	.	X	185	.	.	R	-	1	2	HS6ST1	128742889	1.000000	0.71417	0.985000	0.45067	0.971000	0.66376	1.846000	0.39289	1.015000	0.39444	0.462000	0.41574	CGA		0.627	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331572.1	NM_004807		5	79	0	0	0	1	0	5	79				
IRX2	153572	broad.mit.edu	37	5	2749500	2749500	+	Silent	SNP	G	G	A			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr5:2749500G>A	ENST00000382611.6	-	2	899	c.651C>T	c.(649-651)gaC>gaT	p.D217D	C5orf38_ENST00000457752.2_5'Flank|IRX2_ENST00000502957.1_5'UTR|IRX2_ENST00000302057.5_Silent_p.D217D|C5orf38_ENST00000515640.1_5'Flank|C5orf38_ENST00000505778.1_5'Flank|C5orf38_ENST00000397835.4_5'Flank|C5orf38_ENST00000334000.3_5'Flank	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	217					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.D217D(2)		breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		GCTCACCTTCGTCCTCTGCCG	0.682																																						ENST00000382611.6																			2	Substitution - coding silent(2)	p.D217D(2)	prostate(2)	breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26						c.(649-651)gaC>gaT		iroquois homeobox 2							61.0	56.0	58.0					5																	2749500		2203	4300	6503	SO:0001819	synonymous_variant	153572					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:2749500G>A	AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561		"""Homeoboxes / TALE class"""	14359	protein-coding gene	gene with protein product		606198				11435706	Standard	NM_033267		Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000382611.6:c.651C>T	5.37:g.2749500G>A						IRX2_ENST00000302057.5_Silent_p.D217D|IRX2_ENST00000502957.1_5'UTR	p.D217D	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN		GBM - Glioblastoma multiforme(108;0.204)	2	899	-			217					Q68A19|Q7Z2I7	Silent	SNP	ENST00000382611.6	37	c.651C>T	CCDS3868.1																																																																																				0.682	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2			5	61	0	0	0	1	0	5	61				
AKAP3	10566	broad.mit.edu	37	12	4736294	4736294	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr12:4736294T>C	ENST00000545990.2	-	5	2298	c.1774A>G	c.(1774-1776)Agt>Ggt	p.S592G	AKAP3_ENST00000228850.1_Missense_Mutation_p.S592G|RP11-500M8.7_ENST00000536588.1_Intron	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	592					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)	p.S592G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						AAGAAAACACTCCTTAGGTCC	0.468																																						ENST00000545990.2																			1	Substitution - Missense(1)	p.S592G(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						c.(1774-1776)Agt>Ggt		A kinase (PRKA) anchor protein 3							81.0	80.0	80.0					12																	4736294		2203	4300	6503	SO:0001583	missense	10566				acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding	g.chr12:4736294T>C	U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"""A-kinase anchor proteins"""	373	protein-coding gene	gene with protein product	"""Fibrous Sheath Protein of 95 kDa"", ""cancer/testis antigen 82"""	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.1774A>G	12.37:g.4736294T>C	ENSP00000440994:p.Ser592Gly					AKAP3_ENST00000228850.1_Missense_Mutation_p.S592G	p.S592G	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN			5	2298	-			592					O75945|Q86X01|Q9UM61	Missense_Mutation	SNP	ENST00000545990.2	37	c.1774A>G	CCDS8531.1	.	.	.	.	.	.	.	.	.	.	T	16.83	3.231331	0.58777	.	.	ENSG00000111254	ENST00000228850;ENST00000545990	T;T	0.08807	3.05;3.05	6.07	4.94	0.65067	A-kinase anchor 110kDa, C-terminal (1);	0.068148	0.64402	D	0.000007	T	0.12178	0.0296	M	0.68317	2.08	0.35289	D	0.782069	P	0.41978	0.767	B	0.41723	0.365	T	0.09015	-1.0694	10	0.62326	D	0.03	-23.3318	9.4104	0.38489	0.0:0.0803:0.0:0.9197	.	592	O75969	AKAP3_HUMAN	G	592	ENSP00000228850:S592G;ENSP00000440994:S592G	ENSP00000228850:S592G	S	-	1	0	AKAP3	4606555	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	2.829000	0.48128	2.326000	0.78906	0.533000	0.62120	AGT		0.468	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398911.2	NM_006422		21	92	0	0	0	1	0	21	92				
FAM153A	285596	broad.mit.edu	37	5	177163583	177163583	+	Missense_Mutation	SNP	C	C	T	rs143733594		TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr5:177163583C>T	ENST00000440605.3	-	11	713	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	FAM153A_ENST00000513554.1_Intron|FAM153A_ENST00000510276.1_Missense_Mutation_p.E144K|FAM153A_ENST00000393518.3_Intron	NM_173663.3	NP_775934.3	Q9UHL3	F153A_HUMAN	family with sequence similarity 153, member A	144								p.E144K(3)		kidney(6)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	11	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TACGTACATTCGGCCAGTGTG	0.458																																						ENST00000440605.3																			3	Substitution - Missense(3)	p.E144K(3)	large_intestine(1)|prostate(1)|skin(1)	kidney(6)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	11						c.(430-432)Gaa>Aaa		family with sequence similarity 153, member A		C	LYS/GLU	0,4320		0,0,2160	99.0	80.0	86.0		430	0.9	0.0	5	dbSNP_134	86	1,8215		0,1,4107	no	missense	FAM153A	NM_173663.3	56	0,1,6267	TT,TC,CC		0.0122,0.0,0.0080	possibly-damaging	144/311	177163583	1,12535	2160	4108	6268	SO:0001583	missense	285596							g.chr5:177163583C>T	AB018295	CCDS34305.1	5q35.3	2010-05-12			ENSG00000170074	ENSG00000170074			29940	protein-coding gene	gene with protein product	"""NY REN 7 antigen"""					10508479, 9872452	Standard	NM_173663		Approved	NY-REN-7	uc003mic.3	Q9UHL3	OTTHUMG00000163394	ENST00000440605.3:c.430G>A	5.37:g.177163583C>T	ENSP00000411506:p.Glu144Lys					FAM153A_ENST00000393518.3_Intron|FAM153A_ENST00000513554.1_Intron|FAM153A_ENST00000510276.1_Missense_Mutation_p.E144K	p.E144K	NM_173663.3	NP_775934.3	Q9UHL3	F153A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		11	713	-	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	144					A8K0F3|O94852	Missense_Mutation	SNP	ENST00000440605.3	37	c.430G>A	CCDS34305.1	.	.	.	.	.	.	.	.	.	.	.	12.49	1.954851	0.34471	0.0	1.22E-4	ENSG00000170074	ENST00000440977;ENST00000510276;ENST00000440605	.	.	.	0.885	0.885	0.19188	.	.	.	.	.	T	0.11793	0.0287	N	0.03608	-0.345	0.09310	N	1	P	0.47191	0.891	P	0.46049	0.502	T	0.08953	-1.0697	8	0.41790	T	0.15	.	3.0151	0.06057	0.0:0.3039:0.0:0.6961	.	144	Q9UHL3	F153A_HUMAN	K	221;144;144	.	ENSP00000353887:E144K	E	-	1	0	FAM153A	177096189	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.440000	0.02412	-0.128000	0.11641	-1.342000	0.01247	GAA		0.458	FAM153A-022	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417242.1	NM_173663		17	64	0	0	0	1	0	17	64				
LINC00957	255031	broad.mit.edu	37	7	44080405	44080405	+	lincRNA	SNP	A	A	G			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr7:44080405A>G	ENST00000441052.1	+	0	1090				RASA4CP_ENST00000446874.1_RNA					long intergenic non-protein coding RNA 957																		AGAGGAGGTCACGGTCAGCGC	0.672																																						ENST00000441052.1																			0																																																			0							g.chr7:44080405A>G	BC014556		7p13	2013-06-04			ENSG00000235314	ENSG00000235314		"""Long non-coding RNAs"""	22332	non-coding RNA	RNA, long non-coding							Standard	NR_015401		Approved				OTTHUMG00000155351		7.37:g.44080405A>G														0	1090	+									RNA	SNP	ENST00000441052.1	37																																																																																						0.672	LINC00957-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000339589.1			3	13	0	0	0	1	0	3	13				
CCDC127	133957	broad.mit.edu	37	5	205601	205601	+	Silent	SNP	G	G	A	rs372308365		TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr5:205601G>A	ENST00000296824.3	-	3	726	c.594C>T	c.(592-594)ccC>ccT	p.P198P		NM_145265.2	NP_660308.1	Q96BQ5	CC127_HUMAN	coiled-coil domain containing 127	198								p.P198P(1)		breast(1)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12			all cancers(22;0.0236)|Lung(60;0.113)			CAGCGGCGACGGGGTCGACGG	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		17395	0.001		0.0	False		,,,				2504	0.0					ENST00000296824.3																			1	Substitution - coding silent(1)	p.P198P(1)	prostate(1)	breast(1)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						c.(592-594)ccC>ccT		coiled-coil domain containing 127							75.0	72.0	73.0					5																	205601		2203	4300	6503	SO:0001819	synonymous_variant	133957							g.chr5:205601G>A	AK098567	CCDS3852.1	5p15.33	2008-02-05			ENSG00000164366	ENSG00000164366			30520	protein-coding gene	gene with protein product						12477932	Standard	NM_145265		Approved	FLJ25701	uc003jam.1	Q96BQ5	OTTHUMG00000161586	ENST00000296824.3:c.594C>T	5.37:g.205601G>A							p.P198P	NM_145265.2	NP_660308.1	Q96BQ5	CC127_HUMAN	all cancers(22;0.0236)|Lung(60;0.113)		3	726	-			198						Silent	SNP	ENST00000296824.3	37	c.594C>T	CCDS3852.1																																																																																				0.522	CCDC127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365459.2	NM_145265		16	82	0	0	0	1	0	16	82				
TUBA3D	113457	broad.mit.edu	37	2	132237011	132237011	+	Silent	SNP	G	G	C			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr2:132237011G>C	ENST00000321253.6	+	3	464	c.357G>C	c.(355-357)ctG>ctC	p.L119L	TUBA3D_ENST00000409047.2_3'UTR	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	119					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.L119L(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		ACCTAGTCCTGGACCGGATCC	0.498																																					Ovarian(137;2059 2432 35543 39401)	ENST00000321253.6																			1	Substitution - coding silent(1)	p.L119L(1)	prostate(1)	breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32						c.(355-357)ctG>ctC		tubulin, alpha 3d							152.0	146.0	148.0					2																	132237011		2203	4297	6500	SO:0001819	synonymous_variant	113457				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr2:132237011G>C	K03460	CCDS33290.1	2q21.1	2007-03-16			ENSG00000075886	ENSG00000075886		"""Tubulins"""	24071	protein-coding gene	gene with protein product	"""alpha-tubulin isotype H2-alpha"""					3785200	Standard	NM_080386		Approved	H2-ALPHA	uc002tsu.4	Q13748	OTTHUMG00000153600	ENST00000321253.6:c.357G>C	2.37:g.132237011G>C						TUBA3D_ENST00000409047.2_3'UTR	p.L119L	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	3	464	+			119					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	SNP	ENST00000321253.6	37	c.357G>C	CCDS33290.1																																																																																				0.498	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331800.2	NM_080386		30	190	0	0	0	1	0	30	190				
MCC	4163	broad.mit.edu	37	5	112478967	112478967	+	Missense_Mutation	SNP	C	C	T	rs200082888		TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr5:112478967C>T	ENST00000302475.4	-	3	825	c.262G>A	c.(262-264)Gtc>Atc	p.V88I	MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Missense_Mutation_p.V25I|MCC_ENST00000408903.3_Missense_Mutation_p.V278I	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	88					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.V88I(2)|p.V278I(2)		endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		TCCGCAATGACGCTGTGGAGC	0.547																																						ENST00000302475.4																			4	Substitution - Missense(4)	p.V88I(2)|p.V278I(2)	prostate(4)	endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(262-264)Gtc>Atc		mutated in colorectal cancers							142.0	103.0	116.0					5																	112478967		2202	4300	6502	SO:0001583	missense	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112478967C>T		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.262G>A	5.37:g.112478967C>T	ENSP00000305617:p.Val88Ile					MCC_ENST00000408903.3_Missense_Mutation_p.V278I|MCC_ENST00000515367.2_Missense_Mutation_p.V25I|MCC_ENST00000514701.3_5'UTR	p.V88I	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	3	825	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	88					D3DT05|Q6ZR04	Missense_Mutation	SNP	ENST00000302475.4	37	c.262G>A	CCDS4111.1	.	.	.	.	.	.	.	.	.	.	C	8.336	0.827514	0.16749	.	.	ENSG00000171444	ENST00000302475;ENST00000515367;ENST00000408903	T;T;T	0.78364	-1.17;1.97;0.6	5.96	2.36	0.29203	.	0.212061	0.41194	N	0.000931	T	0.58509	0.2127	N	0.17631	0.505	0.23519	N	0.997508	B;B;B;B	0.09022	0.0;0.001;0.002;0.0	B;B;B;B	0.06405	0.0;0.001;0.002;0.0	T	0.37820	-0.9689	10	0.18276	T	0.48	-17.8954	8.293	0.31969	0.0:0.2321:0.0:0.7679	.	88;50;278;88	B7Z6G0;B3KTX0;P23508-2;P23508	.;.;.;CRCM_HUMAN	I	88;25;278	ENSP00000305617:V88I;ENSP00000421615:V25I;ENSP00000386227:V278I	ENSP00000305617:V88I	V	-	1	0	MCC	112506866	1.000000	0.71417	0.994000	0.49952	0.276000	0.26787	2.553000	0.45837	0.167000	0.19631	0.655000	0.94253	GTC		0.547	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	NM_001085377		10	34	0	0	0	1	0	10	34				
PICK1	9463	broad.mit.edu	37	22	38467745	38467745	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr22:38467745C>T	ENST00000404072.3	+	8	897	c.550C>T	c.(550-552)Cac>Tac	p.H184Y	RP5-1039K5.13_ENST00000445483.1_RNA|PICK1_ENST00000356976.3_Missense_Mutation_p.H184Y	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN	protein interacting with PRKCA 1	184	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				ATP catabolic process (GO:0006200)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|dendritic spine maintenance (GO:0097062)|dendritic spine organization (GO:0097061)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|glial cell development (GO:0021782)|long term synaptic depression (GO:0060292)|monoamine transport (GO:0015844)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|neuronal ion channel clustering (GO:0045161)|positive regulation of receptor internalization (GO:0002092)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|protein targeting (GO:0006605)|receptor clustering (GO:0043113)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endocytic vesicle membrane (GO:0030666)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein kinase C binding (GO:0005080)|receptor binding (GO:0005102)	p.H184Y(1)		cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					GTCGCAGACTCACCGGGGTAA	0.617																																						ENST00000404072.3																			1	Substitution - Missense(1)	p.H184Y(1)	prostate(1)	cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(550-552)Cac>Tac		protein interacting with PRKCA 1							81.0	74.0	77.0					22																	38467745		2203	4300	6503	SO:0001583	missense	9463				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding	g.chr22:38467745C>T	AL049654	CCDS13965.1	22q13.1	2006-02-14	2006-02-14	2006-02-14	ENSG00000100151	ENSG00000100151			9394	protein-coding gene	gene with protein product		605926	"""protein kinase C, alpha binding protein"", ""protein interacting with PRKCA"""	PRKCABP		10340301, 10591208	Standard	XM_006724377		Approved	dJ1039K5, MGC15204	uc003aus.3	Q9NRD5	OTTHUMG00000151159	ENST00000404072.3:c.550C>T	22.37:g.38467745C>T	ENSP00000385205:p.His184Tyr					PICK1_ENST00000356976.3_Missense_Mutation_p.H184Y|RP5-1039K5.13_ENST00000445483.1_RNA	p.H184Y	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN			8	897	+	Melanoma(58;0.045)		184			AH.		B3KS52|O95906	Missense_Mutation	SNP	ENST00000404072.3	37	c.550C>T	CCDS13965.1	.	.	.	.	.	.	.	.	.	.	C	10.92	1.487317	0.26686	.	.	ENSG00000100151	ENST00000404072;ENST00000424694;ENST00000356976	T;T;T	0.76316	-1.01;-1.01;-1.01	5.18	5.18	0.71444	Arfaptin-like (3);	0.097314	0.64402	D	0.000001	T	0.65943	0.2740	N	0.11064	0.09	0.80722	D	1	B	0.31752	0.338	B	0.41440	0.357	T	0.61729	-0.7003	10	0.02654	T	1	-22.6937	19.0865	0.93204	0.0:1.0:0.0:0.0	.	184	Q9NRD5	PICK1_HUMAN	Y	184	ENSP00000385205:H184Y;ENSP00000398141:H184Y;ENSP00000349465:H184Y	ENSP00000349465:H184Y	H	+	1	0	PICK1	36797691	1.000000	0.71417	0.944000	0.38274	0.988000	0.76386	6.333000	0.72939	2.603000	0.88011	0.655000	0.94253	CAC		0.617	PICK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321569.2	NM_012407		17	106	0	0	0	1	0	17	106				
EBLN2	55096	broad.mit.edu	37	3	73111481	73111482	+	Frame_Shift_Ins	INS	-	-	A	rs3832186|rs201649088	byFrequency	TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr3:73111481_73111482insA	ENST00000533473.1	+	1	672_673	c.249_250insA	c.(250-252)agafs	p.R84fs	PPP4R2_ENST00000295862.9_Intron|PPP4R2_ENST00000356692.5_Intron|PPP4R2_ENST00000394284.3_Intron	NM_018029.3	NP_060499.3	Q6P2I7	EBLN2_HUMAN	endogenous Bornavirus-like nucleoprotein 2	84										endometrium(1)|large_intestine(3)|lung(1)|prostate(1)	6						CTGGGAAAAACAGACAGTATCC	0.48													A|A|AA|insertion	1036	0.206869	0.1165	0.0908	5008	,	,		18256	0.3542		0.1203	False		,,,				2504	0.3487					ENST00000533473.1																			0				endometrium(1)|large_intestine(3)|lung(1)|prostate(1)	6						c.(247-252)aagacafs		endogenous Bornavirus-like nucleoprotein 2			,	400,3336		31,338,1499					,	0.5	0.0		dbSNP_107	34	874,7042		44,786,3128	no	intron,frameshift	EBLN2,PPP4R2	NM_174907.2,NM_018029.3	,	75,1124,4627	A1A1,A1R,RR		11.0409,10.7066,10.9337	,	,		1274,10378				SO:0001589	frameshift_variant	55096						protein binding	g.chr3:73111481_73111482insA		CCDS54608.1	3p13	2011-06-03			ENSG00000255423	ENSG00000255423			25493	protein-coding gene	gene with protein product	"""endogenous Borna-like N element 2"""	613250				20054395, 20686665	Standard	NM_018029		Approved		uc003dpj.3	Q6P2I7	OTTHUMG00000165897	ENST00000533473.1:c.250dupA	3.37:g.73111482_73111482dupA	ENSP00000432104:p.Arg84fs					PPP4R2_ENST00000356692.5_Intron|PPP4R2_ENST00000394284.3_Intron|PPP4R2_ENST00000295862.9_Intron	p.T84fs	NM_018029.3	NP_060499.3	Q6P2I7	EBLN2_HUMAN			1	672_673	+			84					Q8WWH3|Q9NW89	Frame_Shift_Ins	INS	ENST00000533473.1	37	c.249_250insA	CCDS54608.1																																																																																				0.480	EBLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386932.1	NM_018029		8	13						8	13	---	---	---	---
LARP1	23367	broad.mit.edu	37	5	154173389	154173390	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr5:154173389_154173390insC	ENST00000336314.4	+	6	691_692	c.667_668insC	c.(667-669)gccfs	p.A223fs		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	300					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)	p.T303fs*19(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CGTGCCCGTGGCCCCCCCCACC	0.644																																						ENST00000336314.4																			1	Insertion - Frameshift(1)	p.T303fs*19(1)	large_intestine(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.(667-669)cccfs		La ribonucleoprotein domain family, member 1																																				SO:0001589	frameshift_variant	23367						protein binding|RNA binding	g.chr5:154173389_154173390insC	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.675dupC	5.37:g.154173397_154173397dupC	ENSP00000336721:p.Ala223fs						p.P223fs	NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		6	691_692	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	300					O94836|Q8N4M2|Q8NB73|Q9UFD7	Frame_Shift_Ins	INS	ENST00000336314.4	37	c.667_668insC	CCDS4328.1																																																																																				0.644	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551		7	343						7	343	---	---	---	---
TBC1D13	54662	broad.mit.edu	37	9	131553912	131553912	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr9:131553912delG	ENST00000372648.5	+	5	390	c.240delG	c.(238-240)cagfs	p.Q80fs	TBC1D13_ENST00000466056.1_3'UTR|TBC1D13_ENST00000223865.8_Frame_Shift_Del_p.Q80fs|TBC1D13_ENST00000539497.1_Intron	NM_018201.3	NP_060671.3	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	80	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6						TGATCATCCAGCCTGGCATTG	0.552																																						ENST00000372648.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6						c.(238-240)cafs		TBC1 domain family, member 13							102.0	90.0	94.0					9																	131553912		2203	4300	6503	SO:0001589	frameshift_variant	54662					intracellular	Rab GTPase activator activity	g.chr9:131553912delG	AK001605	CCDS6911.1, CCDS69677.1	9q34.13	2013-07-09			ENSG00000107021	ENSG00000107021			25571	protein-coding gene	gene with protein product						22762500	Standard	XM_005252060		Approved	FLJ10743	uc010myj.3	Q9NVG8	OTTHUMG00000020760	ENST00000372648.5:c.240delG	9.37:g.131553912delG	ENSP00000361731:p.Gln80fs					TBC1D13_ENST00000466056.1_3'UTR|TBC1D13_ENST00000223865.8_Frame_Shift_Del_p.Q80fs|TBC1D13_ENST00000539497.1_Intron	p.Q80fs	NM_018201.3	NP_060671.3	Q9NVG8	TBC13_HUMAN			5	390	+			80			Rab-GAP TBC.		A7E2E7|B3KW04|B9EGJ8|Q5T270|Q5T271	Frame_Shift_Del	DEL	ENST00000372648.5	37	c.240delG	CCDS6911.1																																																																																				0.552	TBC1D13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054496.1	NM_018201		14	67						14	67	---	---	---	---
TBX3	6926	broad.mit.edu	37	12	115114119	115114120	+	Splice_Site	DEL	TT	TT	-			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr12:115114119_115114120delTT	ENST00000257566.3	-	6	1486_1487	c.1097_1098delAA	c.(1096-1098)aaa>a	p.K366fs	TBX3_ENST00000349155.2_Splice_Site_p.K346fs	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	366					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		ATGGTTTACCTTTGAGGTTCGA	0.545																																						ENST00000349155.2																			0				breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.e5+1		T-box 3																																				SO:0001630	splice_region_variant	6926				anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding	g.chr12:115114119_115114120delTT	BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"""T-boxes"""	11602	protein-coding gene	gene with protein product		601621	"""ulnar mammary syndrome"""	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.1099+1AA>-	12.37:g.115114119_115114120delTT						TBX3_ENST00000257566.3_Splice_Site_p.K366_splice	p.K346_splice	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0574)	5	2000_2001	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		366					Q8TB20|Q9UKF8	Splice_Site	DEL	ENST00000257566.3	37	c.1039_splice	CCDS9176.1																																																																																				0.545	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404947.2	NM_016569, NM_005996	Frame_Shift_Del	14	91						14	91	---	---	---	---
CTD-2509G16.5	0	broad.mit.edu	37	14	65734530	65734531	+	lincRNA	DEL	GT	GT	-	rs200472358		TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr14:65734530_65734531delGT	ENST00000553754.1	-	0	368																											GTGTTGGCGGGTGTGTGTGTGT	0.495																																						ENST00000553754.1																			0																																																			0							g.chr14:65734530_65734531delGT																													14.37:g.65734540_65734541delGT														0	368	-									RNA	DEL	ENST00000553754.1	37																																																																																						0.495	CTD-2509G16.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000412041.1			2	4						2	4	---	---	---	---
VPS13C	54832	broad.mit.edu	37	15	62214732	62214734	+	In_Frame_Del	DEL	ACA	ACA	-			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr15:62214732_62214734delACA	ENST00000261517.5	-	54	6910_6912	c.6837_6839delTGT	c.(6835-6840)gttgta>gta	p.2279_2280VV>V	VPS13C_ENST00000249837.3_In_Frame_Del_p.2236_2237VV>V|VPS13C_ENST00000395896.4_In_Frame_Del_p.2279_2280VV>V|VPS13C_ENST00000395898.3_In_Frame_Del_p.2236_2237VV>V	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AATGGATTCTACAACAACACCAC	0.365																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(6835-6840)gta>gt		vacuolar protein sorting 13 homolog C (S. cerevisiae)																																				SO:0001651	inframe_deletion	54832				protein localization			g.chr15:62214732_62214734delACA	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.6837_6839delTGT	15.37:g.62214738_62214740delACA	ENSP00000261517:p.Val2280del					VPS13C_ENST00000395898.3_In_Frame_Del_p.VV2236del|VPS13C_ENST00000249837.3_In_Frame_Del_p.VV2236del|VPS13C_ENST00000395896.4_In_Frame_Del_p.VV2279del	p.VV2279del	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			54	6910_6912	-			2279						In_Frame_Del	DEL	ENST00000261517.5	37	c.6837_6839delTGT	CCDS32257.1																																																																																				0.365	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		25	165						25	165	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11080670	11080673	+	RNA	DEL	AGAG	AGAG	-	rs67663872|rs58429118		TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr21:11080670_11080673delAGAG	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTAAAGACACAGAGAGAGAGACTT	0.485																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11080670_11080673delAGAG	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11080674_11080677delAGAG												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.485	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		3	5						3	5	---	---	---	---
