#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
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	lincRNA	SNP	A	A	G	rs374719458		TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373																																						ENST00000548109.1																			0																																																			0							g.chr14:19857036A>G																													14.37:g.19857036A>G														0	72	+									RNA	SNP	ENST00000548109.1	37																																																																																						0.373	RP11-146E13.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409408.1			3	56	0	0	0	1	0	3	56				
ZFYVE1	53349	broad.mit.edu	37	14	73491039	73491039	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr14:73491039G>A	ENST00000556143.1	-	2	898	c.178C>T	c.(178-180)Cgg>Tgg	p.R60W	ZFYVE1_ENST00000318876.5_Missense_Mutation_p.R60W|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.R60W	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	60					negative regulation of phosphatase activity (GO:0010923)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|ER-mitochondrion membrane contact site (GO:0044233)|Golgi stack (GO:0005795)|perinuclear region of cytoplasm (GO:0048471)|pre-autophagosomal structure (GO:0000407)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		AGTCTTATCCGCTCATGGTTT	0.547																																						ENST00000556143.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35						c.(178-180)Cgg>Tgg		zinc finger, FYVE domain containing 1							103.0	102.0	103.0					14																	73491039		2203	4300	6503	SO:0001583	missense	53349					endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding	g.chr14:73491039G>A	AF251025	CCDS9811.1, CCDS41969.1, CCDS61498.1	14q24.2	2014-06-13	2003-02-28	2003-03-07		ENSG00000165861		"""Zinc fingers, FYVE domain containing"""	13180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 172"""	605471	"""zinc finger protein, subfamily 2A (FYVE domain containing), 1"""	ZNFN2A1		11024279, 11256955	Standard	NM_021260		Approved	DFCP1, KIAA1589, TAFF1, PPP1R172	uc001xnm.3	Q9HBF4		ENST00000556143.1:c.178C>T	14.37:g.73491039G>A	ENSP00000450742:p.Arg60Trp					ZFYVE1_ENST00000318876.5_Missense_Mutation_p.R60W|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.R60W	p.R60W	NM_021260.2	NP_067083.1	Q9HBF4	ZFYV1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)	2	898	-		all_lung(585;1.33e-09)	60					J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Missense_Mutation	SNP	ENST00000556143.1	37	c.178C>T	CCDS9811.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.239208	0.39598	.	.	ENSG00000165861	ENST00000553891;ENST00000318876;ENST00000556143	T;T;T	0.70282	-0.43;-0.47;-0.47	5.13	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.74068	0.3668	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.75581	-0.3268	10	0.87932	D	0	-22.0734	8.7214	0.34443	0.0754:0.0:0.7748:0.1498	.	60;60	G3V5N8;Q9HBF4	.;ZFYV1_HUMAN	W	60	ENSP00000452442:R60W;ENSP00000326921:R60W;ENSP00000450742:R60W	ENSP00000326921:R60W	R	-	1	2	ZFYVE1	72560792	1.000000	0.71417	0.999000	0.59377	0.006000	0.05464	4.105000	0.57797	1.424000	0.47217	-0.225000	0.12378	CGG		0.547	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413172.1	NM_021260		4	110	0	0	0	1	0	4	110				
ABCA13	154664	broad.mit.edu	37	7	48311922	48311922	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr7:48311922A>G	ENST00000435803.1	+	17	2683	c.2659A>G	c.(2659-2661)Atg>Gtg	p.M887V		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	887					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATCACCAGCTATGAACATAGA	0.353																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(2659-2661)Atg>Gtg		ATP-binding cassette, sub-family A (ABC1), member 13							122.0	121.0	122.0					7																	48311922		1839	4083	5922	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48311922A>G	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.2659A>G	7.37:g.48311922A>G	ENSP00000411096:p.Met887Val						p.M887V	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			17	2683	+			887					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.2659A>G	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	A	4.160	0.028156	0.08054	.	.	ENSG00000179869	ENST00000435803	D	0.84070	-1.8	5.46	-7.66	0.01277	.	1.634110	0.03766	N	0.259005	T	0.52092	0.1713	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48387	-0.9040	10	0.16420	T	0.52	.	2.77	0.05332	0.5196:0.093:0.1365:0.2509	.	887	Q86UQ4	ABCAD_HUMAN	V	887	ENSP00000411096:M887V	ENSP00000411096:M887V	M	+	1	0	ABCA13	48282468	0.000000	0.05858	0.000000	0.03702	0.092000	0.18411	-2.729000	0.00806	-0.923000	0.03785	-0.973000	0.02599	ATG		0.353	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		34	54	0	0	0	1	0	34	54				
OCA2	4948	broad.mit.edu	37	15	28202829	28202829	+	Silent	SNP	C	C	T			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr15:28202829C>T	ENST00000354638.3	-	16	1844	c.1689G>A	c.(1687-1689)ccG>ccA	p.P563P	OCA2_ENST00000382996.2_Silent_p.P563P|OCA2_ENST00000353809.5_Silent_p.P539P	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	563					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CGCGGCTGGCCGGGCTGATGC	0.632									Oculocutaneous Albinism																													ENST00000354638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(1687-1689)ccG>ccA		oculocutaneous albinism II							25.0	27.0	26.0					15																	28202829		2194	4288	6482	SO:0001819	synonymous_variant	4948	Oculocutaneous Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28202829C>T		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.1689G>A	15.37:g.28202829C>T						OCA2_ENST00000353809.5_Silent_p.P539P|OCA2_ENST00000382996.2_Silent_p.P563P	p.P563P	NM_000275.2	NP_000266.2	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	16	1844	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	563					Q15211|Q15212|Q96EN1|Q9UMI5	Silent	SNP	ENST00000354638.3	37	c.1689G>A	CCDS10020.1																																																																																				0.632	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		5	38	0	0	0	1	0	5	38				
MAST4	375449	broad.mit.edu	37	5	66055567	66055567	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr5:66055567C>T	ENST00000403625.2	+	2	689	c.394C>T	c.(394-396)Ccg>Tcg	p.P132S	MAST4_ENST00000478569.1_3'UTR|MAST4_ENST00000404260.3_Missense_Mutation_p.P132S|MAST4_ENST00000406039.1_Missense_Mutation_p.P132S|MAST4_ENST00000406374.1_Missense_Mutation_p.P132S	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	132						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TCCACCCATGCCGTTTCGGAA	0.488																																						ENST00000404260.3																			0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(394-396)Ccg>Tcg		microtubule associated serine/threonine kinase family member 4							108.0	98.0	101.0					5																	66055567		1977	4171	6148	SO:0001583	missense	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66055567C>T	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.394C>T	5.37:g.66055567C>T	ENSP00000385727:p.Pro132Ser					MAST4_ENST00000406374.1_Missense_Mutation_p.P132S|MAST4_ENST00000406039.1_Missense_Mutation_p.P132S|MAST4_ENST00000403625.2_Missense_Mutation_p.P132S|MAST4_ENST00000478569.1_3'UTR	p.P132S			O15021	MAST4_HUMAN		Lung(70;0.011)	2	702	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	132					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	c.394C>T	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.081760	0.55861	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000406374;ENST00000406039;ENST00000432817	T;T;T;T;T	0.68479	-0.33;-0.33;1.33;1.34;0.88	5.31	5.31	0.75309	.	0.319658	0.27871	N	0.017515	T	0.58409	0.2120	N	0.24115	0.695	0.33112	D	0.540613	P;B	0.45715	0.865;0.119	P;B	0.46510	0.519;0.067	T	0.57768	-0.7754	10	0.08381	T	0.77	.	19.1727	0.93585	0.0:1.0:0.0:0.0	.	132;132	E7EX28;O15021-4	.;.	S	132;132;132;132;4	ENSP00000385048:P132S;ENSP00000385727:P132S;ENSP00000385088:P132S;ENSP00000384547:P132S;ENSP00000413573:P4S	ENSP00000385727:P132S	P	+	1	0	MAST4	66091323	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.877000	0.39598	2.779000	0.95612	0.655000	0.94253	CCG		0.488	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			3	36	0	0	0	1	0	3	36				
PRTG	283659	broad.mit.edu	37	15	55916585	55916585	+	Silent	SNP	T	T	C			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr15:55916585T>C	ENST00000389286.4	-	18	3095	c.3048A>G	c.(3046-3048)gaA>gaG	p.E1016E		NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		GCATTAAAGATTCTTCATTTC	0.473																																						ENST00000389286.4																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41						c.(3046-3048)gaA>gaG		protogenin							166.0	148.0	154.0					15																	55916585		1906	4129	6035	SO:0001819	synonymous_variant	283659				multicellular organismal development	integral to membrane		g.chr15:55916585T>C	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.3048A>G	15.37:g.55916585T>C							p.E1016E	NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN		all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)	18	3095	-			1016						Silent	SNP	ENST00000389286.4	37	c.3048A>G	CCDS42040.1																																																																																				0.473	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	NM_173814		3	84	0	0	0	1	0	3	84				
MOV10L1	54456	broad.mit.edu	37	22	50591600	50591600	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr22:50591600G>C	ENST00000262794.5	+	22	3102	c.3019G>C	c.(3019-3021)Gag>Cag	p.E1007Q	MOV10L1_ENST00000395858.3_Missense_Mutation_p.E1007Q|MOV10L1_ENST00000540615.1_Missense_Mutation_p.E987Q|MOV10L1_ENST00000395843.1_Missense_Mutation_p.E50Q|MOV10L1_ENST00000395852.1_Missense_Mutation_p.E134Q|MOV10L1_ENST00000545383.1_Missense_Mutation_p.E1007Q|MOV10L1_ENST00000354853.2_Missense_Mutation_p.E50Q	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	1007					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GCTGGGCTGGGAGAAGTTGCC	0.587																																						ENST00000262794.5																			0				breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67						c.(3019-3021)Gag>Cag		Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)							244.0	224.0	231.0					22																	50591600		2203	4300	6503	SO:0001583	missense	54456				germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	g.chr22:50591600G>C	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.3019G>C	22.37:g.50591600G>C	ENSP00000262794:p.Glu1007Gln					MOV10L1_ENST00000354853.2_Missense_Mutation_p.E50Q|MOV10L1_ENST00000395852.1_Missense_Mutation_p.E134Q|MOV10L1_ENST00000395843.1_Missense_Mutation_p.E50Q|MOV10L1_ENST00000395858.3_Missense_Mutation_p.E1007Q|MOV10L1_ENST00000545383.1_Missense_Mutation_p.E1007Q|MOV10L1_ENST00000540615.1_Missense_Mutation_p.E987Q	p.E1007Q	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	22	3102	+		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)	1007					A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	ENST00000262794.5	37	c.3019G>C	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	.	19.07	3.755886	0.69648	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000395843;ENST00000540615;ENST00000395852;ENST00000354853	D;D;D;D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62;-1.62;-1.62;-1.62	5.11	5.11	0.69529	.	0.283290	0.40728	N	0.001023	D	0.86859	0.6034	L	0.59436	1.845	0.35206	D	0.774697	D;P;B;D;D	0.60160	0.987;0.906;0.354;0.978;0.978	P;P;B;P;P	0.56916	0.809;0.66;0.283;0.776;0.776	D	0.90648	0.4580	10	0.51188	T	0.08	-26.6739	14.9685	0.71213	0.0:0.0:0.8568:0.1432	.	987;50;134;1007;1007	F5H403;Q9BXT6-3;Q9BXT6-2;A8MXC6;Q9BXT6	.;.;.;.;M10L1_HUMAN	Q	1007;1007;1007;50;987;134;50	ENSP00000438978:E1007Q;ENSP00000262794:E1007Q;ENSP00000379199:E1007Q;ENSP00000379184:E50Q;ENSP00000438542:E987Q;ENSP00000379193:E134Q;ENSP00000346917:E50Q	ENSP00000262794:E1007Q	E	+	1	0	MOV10L1	48933727	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	5.795000	0.69074	2.376000	0.81061	0.462000	0.41574	GAG		0.587	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		46	42	0	0	0	1	0	46	42				
SZT2	23334	broad.mit.edu	37	1	43904411	43904411	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr1:43904411C>T	ENST00000562955.1	+	46	6379	c.6379C>T	c.(6379-6381)Cgc>Tgc	p.R2127C	SZT2_ENST00000372442.1_Missense_Mutation_p.R1285C|SZT2_ENST00000471177.1_3'UTR	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2184					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)		p.R1285C(2)|p.R2127C(1)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TCTATGTCGGCGCCTGGATGA	0.572																																						ENST00000562955.1																			3	Substitution - Missense(3)	p.R1285C(2)|p.R2127C(1)	endometrium(3)	NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(6379-6381)Cgc>Tgc		seizure threshold 2 homolog (mouse)							103.0	89.0	94.0					1																	43904411		2203	4300	6503	SO:0001583	missense	23334					peroxisome		g.chr1:43904411C>T	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.6379C>T	1.37:g.43904411C>T	ENSP00000457168:p.Arg2127Cys					SZT2_ENST00000471177.1_3'UTR|SZT2_ENST00000372442.1_Missense_Mutation_p.R1285C	p.R2127C	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			46	6379	+			2184					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.6379C>T	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	C	15.91	2.972095	0.53614	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.77294	0.4109	L	0.54323	1.7	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	T	0.78086	-0.2341	9	0.87932	D	0	.	19.4643	0.94932	0.0:1.0:0.0:0.0	.	2127	Q5T011-5	.	C	1285	.	ENSP00000361519:R1285C	R	+	1	0	SZT2	43676998	1.000000	0.71417	1.000000	0.80357	0.076000	0.17211	4.410000	0.59774	2.705000	0.92388	0.655000	0.94253	CGC		0.572	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		16	4	0	0	0	1	0	16	4				
ZNF721	170960	broad.mit.edu	37	4	436239	436239	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr4:436239C>T	ENST00000338977.5	-	2	2029	c.1981G>A	c.(1981-1983)Gag>Aag	p.E661K	ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.E673K			Q8TF20	ZN721_HUMAN	zinc finger protein 721	661					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TTGCCACACTCTTCACATTTG	0.418																																						ENST00000338977.5																			0				endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						c.(1981-1983)Gag>Aag		zinc finger protein 721							140.0	147.0	145.0					4																	436239		2047	4214	6261	SO:0001583	missense	170960							g.chr4:436239C>T	AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.1981G>A	4.37:g.436239C>T	ENSP00000340524:p.Glu661Lys					ZNF721_ENST00000511833.2_Missense_Mutation_p.E673K|ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000506646.1_Intron|ABCA11P_ENST00000451020.2_RNA	p.E661K							2	2029	-								Q69YG7	Missense_Mutation	SNP	ENST00000338977.5	37	c.1981G>A		.	.	.	.	.	.	.	.	.	.	C	12.70	2.016886	0.35606	.	.	ENSG00000182903	ENST00000338977;ENST00000511833	T;T	0.07327	3.2;3.2	0.701	-1.4	0.08968	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14313	0.0346	M	0.67625	2.065	0.09310	N	1	P;P;P	0.49862	0.602;0.929;0.913	B;P;P	0.53722	0.393;0.733;0.614	T	0.09773	-1.0659	9	0.51188	T	0.08	.	3.3576	0.07174	0.0:0.4946:0.2676:0.2378	.	661;673;673	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	K	661;673	ENSP00000340524:E661K;ENSP00000428878:E673K	ENSP00000340524:E661K	E	-	1	0	ZNF721	426239	0.000000	0.05858	0.000000	0.03702	0.186000	0.23388	-0.002000	0.12924	-1.028000	0.03321	0.184000	0.17185	GAG		0.418	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474		4	100	0	0	0	1	0	4	100				
WDR38	401551	broad.mit.edu	37	9	127618017	127618017	+	Missense_Mutation	SNP	C	C	T	rs528155278	byFrequency	TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr9:127618017C>T	ENST00000373574.1	+	3	351	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W		NM_001045476.1|NM_001276374.1	NP_001038941.1|NP_001263303.1	Q5JTN6	WDR38_HUMAN	WD repeat domain 38	99					hematopoietic progenitor cell differentiation (GO:0002244)					breast(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						GAAGTGTCTGCGGGTCCTGAA	0.617											OREG0019485	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	2	0.000399361	0.0	0.0	5008	,	,		19618	0.0		0.0	False		,,,				2504	0.002					ENST00000373574.1																			0				breast(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						c.(295-297)Cgg>Tgg		WD repeat domain 38							85.0	92.0	90.0					9																	127618017		2172	4249	6421	SO:0001583	missense	401551							g.chr9:127618017C>T		CCDS43876.1, CCDS75898.1, CCDS75899.1	9q33.3	2013-01-09			ENSG00000136918	ENSG00000136918		"""WD repeat domain containing"""	23745	protein-coding gene	gene with protein product							Standard	NM_001276375		Approved		uc011lzo.3	Q5JTN6	OTTHUMG00000020664	ENST00000373574.1:c.295C>T	9.37:g.127618017C>T	ENSP00000362677:p.Arg99Trp		OREG0019485	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1558		p.R99W	NM_001045476.1|NM_001276374.1	NP_001038941.1|NP_001263303.1	Q5JTN6	WDR38_HUMAN			3	351	+			99					A0PK24	Missense_Mutation	SNP	ENST00000373574.1	37	c.295C>T	CCDS43876.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.668132	0.47677	.	.	ENSG00000136918	ENST00000373574	T	0.61274	0.12	4.37	3.47	0.39725	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	1.019810	0.07871	N	0.967941	T	0.67664	0.2917	M	0.93016	3.37	0.21184	N	0.999768	B;B;B	0.11235	0.004;0.004;0.004	B;B;B	0.04013	0.001;0.001;0.001	T	0.60752	-0.7201	10	0.62326	D	0.03	.	10.0121	0.41992	0.0:0.8998:0.0:0.1002	.	99;88;99	B7ZW23;B7ZW24;Q5JTN6	.;.;WDR38_HUMAN	W	99	ENSP00000362677:R99W	ENSP00000362677:R99W	R	+	1	2	WDR38	126657838	0.020000	0.18652	0.815000	0.32552	0.129000	0.20672	1.026000	0.30103	1.054000	0.40438	0.462000	0.41574	CGG		0.617	WDR38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054048.1	NM_001045476		4	87	0	0	0	1	0	4	87				
GIF	2694	broad.mit.edu	37	11	59612897	59612897	+	Silent	SNP	G	G	A			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr11:59612897G>A	ENST00000257248.2	-	1	77	c.30C>T	c.(28-30)agC>agT	p.S10S	GIF_ENST00000541311.1_5'UTR	NM_005142.2	NP_005133.2	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	10					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)	cobalamin binding (GO:0031419)			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17					Cyanocobalamin(DB00115)	CCCAGAGAAGGCTCAGGAGGT	0.512																																					NSCLC(53;1139 1245 16872 38474 42853)	ENST00000257248.2																			0				large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						c.(28-30)agC>agT		gastric intrinsic factor (vitamin B synthesis)							173.0	169.0	171.0					11																	59612897		2201	4295	6496	SO:0001819	synonymous_variant	2694				cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding	g.chr11:59612897G>A	X76562	CCDS7977.1	11q12.1	2013-09-20			ENSG00000134812	ENSG00000134812			4268	protein-coding gene	gene with protein product		609342				2071148	Standard	NM_005142		Approved	TCN3, IF, IFMH, INF	uc001noi.3	P27352	OTTHUMG00000167399	ENST00000257248.2:c.30C>T	11.37:g.59612897G>A						GIF_ENST00000541311.1_5'UTR	p.S10S	NM_005142.2	NP_005133.2	P27352	IF_HUMAN			1	77	-			10					B2RAN8|B4DVZ1	Silent	SNP	ENST00000257248.2	37	c.30C>T	CCDS7977.1																																																																																				0.512	GIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394497.1	NM_005142		14	97	0	0	0	1	0	14	97				
PLXNA3	55558	broad.mit.edu	37	X	153697253	153697253	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chrX:153697253G>A	ENST00000369682.3	+	25	4550	c.4375G>A	c.(4375-4377)Gca>Aca	p.A1459T		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1459					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CACGGGCGAGGCACGATACTC	0.617																																						ENST00000369682.3																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48						c.(4375-4377)Gca>Aca		plexin A3							120.0	89.0	100.0					X																	153697253		2203	4300	6503	SO:0001583	missense	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153697253G>A	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.4375G>A	X.37:g.153697253G>A	ENSP00000358696:p.Ala1459Thr						p.A1459T	NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN			25	4550	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1459					Q5HY36	Missense_Mutation	SNP	ENST00000369682.3	37	c.4375G>A	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056927	0.76074	.	.	ENSG00000130827	ENST00000369682	T	0.24350	1.86	5.51	5.51	0.81932	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.63094	0.2482	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74300	-0.3710	10	0.87932	D	0	.	17.0496	0.86515	0.0:0.0:1.0:0.0	.	1459	P51805	PLXA3_HUMAN	T	1459	ENSP00000358696:A1459T	ENSP00000358696:A1459T	A	+	1	0	PLXNA3	153350447	1.000000	0.71417	0.982000	0.44146	0.312000	0.27988	9.860000	0.99555	2.289000	0.77006	0.600000	0.82982	GCA		0.617	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		3	41	0	0	0	1	0	3	41				
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766	byFrequency	TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000330386.6_Silent_p.Q2644Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562													G|||	37	0.00738818	0.0038	0.0072	5008	,	,		15585	0.002		0.0149	False		,,,				2504	0.0102					ENST00000333577.4																			17	Substitution - coding silent(17)	p.Q2724Q(16)|p.Q2725Q(1)	prostate(4)|kidney(4)|central_nervous_system(3)|lung(3)|endometrium(2)|urinary_tract(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8281-8283)caG>caA		E1A binding protein p400							28.0	31.0	30.0					12																	132547087		2199	4282	6481	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547087G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8283G>A	12.37:g.132547087G>A						EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q	p.Q2761Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8392	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2761			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8283G>A																																																																																					0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		3	30	0	0	0	1	0	3	30				
FSIP2	401024	broad.mit.edu	37	2	186673362	186673362	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr2:186673362A>G	ENST00000424728.1	+	17	19329	c.19329A>G	c.(19327-19329)atA>atG	p.I6443M	FSIP2_ENST00000343098.5_Missense_Mutation_p.I6532M			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	6443										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						ATTATGATATAAAAGATACAA	0.289																																						ENST00000343098.5																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						c.(19594-19596)atA>atG		fibrous sheath interacting protein 2							44.0	42.0	42.0					2																	186673362		1788	4055	5843	SO:0001583	missense	401024							g.chr2:186673362A>G	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.19329A>G	2.37:g.186673362A>G	ENSP00000401306:p.Ile6443Met					FSIP2_ENST00000424728.1_Missense_Mutation_p.I6443M	p.I6532M	NM_173651.2	NP_775922.2					17	19596	+								Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	ENST00000424728.1	37	c.19596A>G		.	.	.	.	.	.	.	.	.	.	A	9.546	1.114602	0.20795	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.52057	0.68;0.69	5.22	-1.51	0.08664	.	0.593342	0.16006	N	0.234064	T	0.29491	0.0735	N	0.22421	0.69	0.09310	N	1	.	.	.	.	.	.	T	0.18178	-1.0345	8	0.41790	T	0.15	.	4.5034	0.11876	0.4335:0.3111:0.2555:0.0	.	.	.	.	M	6532;6443	ENSP00000344403:I6532M;ENSP00000401306:I6443M	ENSP00000344403:I6532M	I	+	3	3	FSIP2	186381607	0.993000	0.37304	0.010000	0.14722	0.302000	0.27658	0.568000	0.23623	-0.395000	0.07715	-1.208000	0.01637	ATA		0.289	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		23	18	0	0	0	1	0	23	18				
OR13C5	138799	broad.mit.edu	37	9	107361002	107361002	+	Silent	SNP	C	C	T	rs78992791	byFrequency	TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr9:107361002C>T	ENST00000374779.2	-	1	786	c.693G>A	c.(691-693)tcG>tcA	p.S231S		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	231						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						TTCTCCCCTCCGAAGAGCTAA	0.428																																						ENST00000374779.2																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						c.(691-693)tcG>tcA		olfactory receptor, family 13, subfamily C, member 5							123.0	114.0	117.0					9																	107361002		2203	4300	6503	SO:0001819	synonymous_variant	138799				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107361002C>T		CCDS35091.1	9q31.1	2012-10-03			ENSG00000255800	ENSG00000277556		"""GPCR / Class A : Olfactory receptors"""	15100	protein-coding gene	gene with protein product							Standard	NM_001004482		Approved		uc011lvp.2	Q8NGS8	OTTHUMG00000020408	ENST00000374779.2:c.693G>A	9.37:g.107361002C>T							p.S231S	NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN			1	786	-			231					B2RNE5|B9EGW5|Q6IF53	Silent	SNP	ENST00000374779.2	37	c.693G>A	CCDS35091.1																																																																																				0.428	OR13C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053479.2	NM_001004482		40	63	0	0	0	1	0	40	63				
PHIP	55023	broad.mit.edu	37	6	79770432	79770432	+	Missense_Mutation	SNP	T	T	G			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr6:79770432T>G	ENST00000275034.4	-	5	460	c.293A>C	c.(292-294)cAa>cCa	p.Q98P		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	98					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TAATAAAGTTTGTACTCCAGG	0.343																																						ENST00000275034.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68						c.(292-294)cAa>cCa		pleckstrin homology domain interacting protein							75.0	78.0	77.0					6																	79770432		2203	4300	6503	SO:0001583	missense	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79770432T>G	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.293A>C	6.37:g.79770432T>G	ENSP00000275034:p.Gln98Pro						p.Q98P	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	5	460	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	98					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	c.293A>C	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	T	15.81	2.942377	0.53079	.	.	ENSG00000146247	ENST00000275034	T	0.21932	1.98	5.88	5.88	0.94601	.	0.076711	0.56097	N	0.000040	T	0.06234	0.0161	N	0.14661	0.345	0.46028	D	0.998822	P;P	0.50528	0.936;0.936	B;B	0.39258	0.295;0.295	T	0.27157	-1.0082	9	.	.	.	-13.4535	15.4401	0.75176	0.0:0.0:0.0:1.0	.	98;98	A7J992;Q8WWQ0	.;PHIP_HUMAN	P	98	ENSP00000275034:Q98P	.	Q	-	2	0	PHIP	79827151	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.637000	0.61346	2.245000	0.73994	0.482000	0.46254	CAA		0.343	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			12	30	0	0	0	1	0	12	30				
TTC23	64927	broad.mit.edu	37	15	99678297	99678297	+	Nonsense_Mutation	SNP	G	G	C			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr15:99678297G>C	ENST00000394132.2	-	14	2079	c.1262C>G	c.(1261-1263)tCa>tGa	p.S421*	RP11-6O2.3_ENST00000564527.1_RNA|TTC23_ENST00000262074.4_Nonsense_Mutation_p.S421*|TTC23_ENST00000394135.3_Nonsense_Mutation_p.S421*|TTC23_ENST00000558613.1_Nonsense_Mutation_p.S421*|TTC23_ENST00000394136.1_Nonsense_Mutation_p.S421*|TTC23_ENST00000558663.1_Nonsense_Mutation_p.S421*			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	421										endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			TTTGGCTTTTGATGCCTGCCT	0.637																																						ENST00000394132.2																			0				endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16						c.(1261-1263)tCa>tGa		tetratricopeptide repeat domain 23							47.0	53.0	51.0					15																	99678297		1988	4154	6142	SO:0001587	stop_gained	64927						binding	g.chr15:99678297G>C		CCDS10379.2	15q26.3	2013-01-11			ENSG00000103852	ENSG00000103852		"""Tetratricopeptide (TTC) repeat domain containing"""	25730	protein-coding gene	gene with protein product						12477932	Standard	NM_001288615		Approved	FLJ12572, HCC-8	uc002bux.3	Q5W5X9	OTTHUMG00000147344	ENST00000394132.2:c.1262C>G	15.37:g.99678297G>C	ENSP00000377690:p.Ser421*					TTC23_ENST00000394135.3_Nonsense_Mutation_p.S421*|TTC23_ENST00000394136.1_Nonsense_Mutation_p.S421*|TTC23_ENST00000262074.4_Nonsense_Mutation_p.S421*|TTC23_ENST00000558613.1_Nonsense_Mutation_p.S421*|TTC23_ENST00000558663.1_Nonsense_Mutation_p.S421*	p.S421*			Q5W5X9	TTC23_HUMAN	all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)		14	2079	-	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		421					A8K6M5|Q53HK0|Q96BC9|Q9H8W9|Q9H9S7	Nonsense_Mutation	SNP	ENST00000394132.2	37	c.1262C>G	CCDS10379.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.527802|7.527802	0.98339|0.98339	.|.	.|.	ENSG00000103852|ENSG00000103852	ENST00000434594|ENST00000394132;ENST00000394136;ENST00000262074;ENST00000394135	.|.	.|.	.|.	4.94|4.94	0.998|0.998	0.19857|0.19857	.|.	.|1.387220	.|0.06696	.|U	.|0.770624	T|.	0.24699|.	0.0599|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.30297|.	-0.9983|.	4|.	.|0.26408	.|T	.|0.33	0.0306|0.0306	4.3813|4.3813	0.11295|0.11295	0.1729:0.0:0.2765:0.5506|0.1729:0.0:0.2765:0.5506	.|.	.|.	.|.	.|.	E|X	232|421	.|.	.|ENSP00000262074:S421X	Q|S	-|-	1|2	0|0	TTC23|TTC23	97495820|97495820	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	0.705000|0.705000	0.25675|0.25675	-0.003000|-0.003000	0.14444|0.14444	-0.309000|-0.309000	0.09137|0.09137	CAA|TCA		0.637	TTC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303953.2	NM_022905		19	19	0	0	0	1	0	19	19				
SS18L2	51188	broad.mit.edu	37	3	42632448	42632448	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr3:42632448C>T	ENST00000447630.1	+	2	267	c.59C>T	c.(58-60)aCt>aTt	p.T20I	SS18L2_ENST00000011691.4_Missense_Mutation_p.T20I|SEC22C_ENST00000417572.1_Intron			Q9UHA2	S18L2_HUMAN	synovial sarcoma translocation gene on chromosome 18-like 2	20										prostate(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.214)		AATCAAGAGACTATCCAGCGG	0.667																																						ENST00000447630.1																			0				prostate(1)	1						c.(58-60)aCt>aTt		synovial sarcoma translocation gene on chromosome 18-like 2							69.0	62.0	65.0					3																	42632448		2203	4300	6503	SO:0001583	missense	51188							g.chr3:42632448C>T	AF201950	CCDS2701.1	3p21	2008-07-18			ENSG00000008324	ENSG00000008324			15593	protein-coding gene	gene with protein product	"""SYT homolog 2"""	606473				11435705	Standard	NM_016305		Approved	KIAA-iso	uc003clk.1	Q9UHA2	OTTHUMG00000131794	ENST00000447630.1:c.59C>T	3.37:g.42632448C>T	ENSP00000401115:p.Thr20Ile					SEC22C_ENST00000417572.1_Intron|SS18L2_ENST00000011691.4_Missense_Mutation_p.T20I	p.T20I			Q9UHA2	S18L2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.214)	2	267	+			20					B2R5L1	Missense_Mutation	SNP	ENST00000447630.1	37	c.59C>T	CCDS2701.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.514705	0.85389	.	.	ENSG00000008324	ENST00000447630;ENST00000011691	.	.	.	6.05	6.05	0.98169	.	0.137407	0.64402	D	0.000003	T	0.58235	0.2108	.	.	.	0.58432	D	0.999995	B	0.24186	0.099	B	0.27608	0.081	T	0.54788	-0.8241	8	0.54805	T	0.06	.	16.1303	0.81428	0.0:1.0:0.0:0.0	.	20	Q9UHA2	S18L2_HUMAN	I	20	.	ENSP00000011691:T20I	T	+	2	0	SS18L2	42607452	0.987000	0.35691	0.983000	0.44433	0.996000	0.88848	2.970000	0.49240	2.882000	0.98803	0.645000	0.84053	ACT		0.667	SS18L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254730.2	NM_016305		24	39	0	0	0	1	0	24	39				
XCL2	6846	broad.mit.edu	37	1	168510202	168510202	+	Silent	SNP	G	G	A	rs149372418	byFrequency	TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr1:168510202G>A	ENST00000367819.2	-	3	365	c.333C>T	c.(331-333)acC>acT	p.T111T		NM_003175.3	NP_003166.1	Q9UBD3	XCL2_HUMAN	chemokine (C motif) ligand 2	111					blood circulation (GO:0008015)|cell chemotaxis (GO:0060326)|immune response (GO:0006955)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)	p.T111T(1)		large_intestine(1)|lung(6)|ovary(1)	8	all_hematologic(923;0.215)					AGCCAGTCAGGGTCACAGCTG	0.498													G|||	2	0.000399361	0.0	0.0	5008	,	,		15935	0.001		0.0	False		,,,				2504	0.001					ENST00000367819.2																			1	Substitution - coding silent(1)	p.T111T(1)	lung(1)	large_intestine(1)|lung(6)|ovary(1)	8						c.(331-333)acC>acT		chemokine (C motif) ligand 2		G		1,4405		0,1,2202	299.0	234.0	256.0		333	1.4	0.2	1	dbSNP_134	256	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	XCL2	NM_003175.3		0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231		111/115	168510202	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	6846				blood circulation|chemotaxis|immune response|signal transduction	extracellular space	chemokine activity	g.chr1:168510202G>A	BC070309	CCDS1273.1	1q24.2	2013-02-28	2002-08-22	2002-08-23	ENSG00000143185	ENSG00000143185		"""Endogenous ligands"""	10646	protein-coding gene	gene with protein product		604828	"""small inducible cytokine subfamily C, member 2"""	SCYC2		7875320	Standard	NM_003175		Approved	SCM-1b	uc001gfn.4	Q9UBD3	OTTHUMG00000034549	ENST00000367819.2:c.333C>T	1.37:g.168510202G>A							p.T111T	NM_003175.3	NP_003166.1	Q9UBD3	XCL2_HUMAN			3	365	-	all_hematologic(923;0.215)		111						Silent	SNP	ENST00000367819.2	37	c.333C>T	CCDS1273.1																																																																																				0.498	XCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083613.1	NM_003175		5	39	0	0	0	1	0	5	39				
SLC34A2	10568	broad.mit.edu	37	4	25678090	25678090	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr4:25678090C>T	ENST00000382051.3	+	13	1842	c.1792C>T	c.(1792-1794)Cgc>Tgc	p.R598C	SLC34A2_ENST00000504570.1_Missense_Mutation_p.R597C|SLC34A2_ENST00000503434.1_Missense_Mutation_p.R597C	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	598					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)	p.R598C(1)	SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				GCTGTGGATGCGCTCGCTGAA	0.632			T	ROS1	NSCLC																																	ENST00000382051.3				Dom	yes		4	4p15.2	10568	T	"""solute carrier family 34 (sodium phosphate), member 2"""			E	ROS1		NSCLC	SLC34A2/ROS1(14)	1	Substitution - Missense(1)	p.R598C(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41						c.(1792-1794)Cgc>Tgc		solute carrier family 34 (type II sodium/phosphate contransporter), member 2							74.0	74.0	74.0					4																	25678090		2203	4300	6503	SO:0001583	missense	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25678090C>T	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.1792C>T	4.37:g.25678090C>T	ENSP00000371483:p.Arg598Cys					SLC34A2_ENST00000503434.1_Missense_Mutation_p.R597C|SLC34A2_ENST00000504570.1_Missense_Mutation_p.R597C	p.R598C	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN			13	1842	+		Breast(46;0.0503)	598					A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Missense_Mutation	SNP	ENST00000382051.3	37	c.1792C>T	CCDS3435.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.778180	0.70107	.	.	ENSG00000157765	ENST00000504570;ENST00000382051;ENST00000503434	T;T;T	0.26810	1.71;1.71;1.71	5.18	5.18	0.71444	.	0.367222	0.33327	N	0.005036	T	0.48909	0.1526	M	0.71036	2.16	0.50632	D	0.999884	D;D	0.76494	0.999;0.997	P;P	0.59424	0.857;0.724	T	0.52079	-0.8623	10	0.87932	D	0	-7.0509	19.0623	0.93097	0.0:1.0:0.0:0.0	.	597;598	O95436-2;O95436	.;NPT2B_HUMAN	C	597;598;597	ENSP00000425501:R597C;ENSP00000371483:R598C;ENSP00000423021:R597C	ENSP00000371483:R598C	R	+	1	0	SLC34A2	25287188	1.000000	0.71417	0.994000	0.49952	0.178000	0.23041	7.776000	0.85560	2.584000	0.87258	0.561000	0.74099	CGC		0.632	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		4	69	0	0	0	1	0	4	69				
SLC38A2	54407	broad.mit.edu	37	12	46758436	46758436	+	Silent	SNP	A	A	G			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr12:46758436A>G	ENST00000256689.5	-	9	1140	c.696T>C	c.(694-696)ttT>ttC	p.F232F	SLC38A2_ENST00000547252.1_5'UTR|SLC38A2_ENST00000551374.1_Silent_p.F70F	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	232					amino acid transport (GO:0006865)|glutamate secretion (GO:0014047)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|sodium ion transport (GO:0006814)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		CCACAATCAGAAAGAACACCA	0.328																																					Ovarian(9;448 492 8335 28722 40361)	ENST00000256689.5																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						c.(694-696)ttT>ttC		solute carrier family 38, member 2							78.0	89.0	85.0					12																	46758436		2202	4299	6501	SO:0001819	synonymous_variant	54407				cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr12:46758436A>G	AB037803	CCDS8749.1	12q13.11	2014-08-12			ENSG00000134294	ENSG00000134294		"""Solute carriers"""	13448	protein-coding gene	gene with protein product		605180				10747860, 17237199	Standard	NM_018976		Approved	SAT2, ATA2, KIAA1382, SNAT2	uc001rpg.3	Q96QD8	OTTHUMG00000169471	ENST00000256689.5:c.696T>C	12.37:g.46758436A>G						SLC38A2_ENST00000547252.1_5'UTR|SLC38A2_ENST00000551374.1_Silent_p.F70F	p.F232F	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)	9	1140	-	Lung SC(27;0.192)|Renal(347;0.236)		232					Q6IA88|Q6ZMG2|Q9HAV3|Q9NVA8|Q9P2G5	Silent	SNP	ENST00000256689.5	37	c.696T>C	CCDS8749.1																																																																																				0.328	SLC38A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404226.1			22	29	0	0	0	1	0	22	29				
KPRP	448834	broad.mit.edu	37	1	152732999	152732999	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr1:152732999G>A	ENST00000606109.1	+	1	963	c.935G>A	c.(934-936)cGc>cAc	p.R312H	KPRP_ENST00000368773.1_Missense_Mutation_p.R312H			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	312	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCCTCGCCGCCCCATTTCA	0.592																																						ENST00000368773.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(934-936)cGc>cAc		keratinocyte proline-rich protein							47.0	47.0	47.0					1																	152732999		2203	4300	6503	SO:0001583	missense	448834					cytoplasm		g.chr1:152732999G>A	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.935G>A	1.37:g.152732999G>A	ENSP00000475216:p.Arg312His					KPRP_ENST00000606109.1_Missense_Mutation_p.R312H	p.R312H	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	993	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		312			Pro-rich.			Missense_Mutation	SNP	ENST00000606109.1	37	c.935G>A	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	G	4.524	0.097227	0.08681	.	.	ENSG00000203786	ENST00000368773	T	0.15834	2.39	5.3	0.0317	0.14172	.	1.822830	0.02592	N	0.100084	T	0.03651	0.0104	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37865	-0.9687	10	0.44086	T	0.13	-0.013	7.04	0.25015	0.3:0.1177:0.5823:0.0	.	312	Q5T749	KPRP_HUMAN	H	312	ENSP00000357762:R312H	ENSP00000357762:R312H	R	+	2	0	KPRP	150999623	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.277000	0.18734	-0.415000	0.07484	-1.598000	0.00824	CGC		0.592	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		3	52	0	0	0	1	0	3	52				
HIST1H1T	3010	broad.mit.edu	37	6	26107808	26107808	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr6:26107808C>T	ENST00000338379.4	-	1	556	c.514G>A	c.(514-516)Gga>Aga	p.G172R		NM_005323.3	NP_005314.2	P22492	H1T_HUMAN	histone cluster 1, H1t	172					binding of sperm to zona pellucida (GO:0007339)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|nucleosome assembly (GO:0006334)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						CCCTTGGCTCCTTTAGCCTTT	0.478																																						ENST00000338379.4																			0				breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						c.(514-516)Gga>Aga		histone cluster 1, H1t							144.0	134.0	138.0					6																	26107808		2203	4300	6503	SO:0001583	missense	3010				cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding	g.chr6:26107808C>T	M60094	CCDS34349.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000187475	ENSG00000187475		"""Histones / Replication-dependent"""	4720	protein-coding gene	gene with protein product		142712	"""H1 histone family, member T (testis-specific)"", ""histone 1, H1t"""	H1FT		8175896, 12408966	Standard	NM_005323		Approved	H1t	uc003ngj.3	P22492	OTTHUMG00000014430	ENST00000338379.4:c.514G>A	6.37:g.26107808C>T	ENSP00000341214:p.Gly172Arg						p.G172R	NM_005323.3	NP_005314.2	P22492	H1T_HUMAN			1	556	-			172					Q6ISI1|Q8IUE8	Missense_Mutation	SNP	ENST00000338379.4	37	c.514G>A	CCDS34349.1	.	.	.	.	.	.	.	.	.	.	.	19.37	3.813860	0.70912	.	.	ENSG00000187475	ENST00000338379	T	0.04156	3.69	5.08	3.32	0.38043	.	0.240741	0.31301	U	0.007897	T	0.00784	0.0026	N	0.08118	0	0.09310	N	0.999999	B	0.30664	0.289	B	0.24848	0.056	T	0.48592	-0.9022	10	0.20519	T	0.43	-7.3272	10.4661	0.44609	0.0:0.8439:0.0:0.1561	.	172	P22492	H1T_HUMAN	R	172	ENSP00000341214:G172R	ENSP00000341214:G172R	G	-	1	0	HIST1H1T	26215787	0.007000	0.16637	0.046000	0.18839	0.424000	0.31475	1.942000	0.40243	0.751000	0.32900	0.655000	0.94253	GGA		0.478	HIST1H1T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040093.2	NM_005323		32	58	0	0	0	1	0	32	58				
DHRS9	10170	broad.mit.edu	37	2	169939889	169939889	+	Missense_Mutation	SNP	A	A	C			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr2:169939889A>C	ENST00000327239.4	+	6	1868	c.364A>C	c.(364-366)Act>Cct	p.T122P	DHRS9_ENST00000436483.2_Missense_Mutation_p.T122P|DHRS9_ENST00000412271.1_Missense_Mutation_p.T122P|DHRS9_ENST00000421653.1_5'UTR|DHRS9_ENST00000602501.1_Missense_Mutation_p.T122P|DHRS9_ENST00000432060.2_Missense_Mutation_p.T182P|DHRS9_ENST00000428522.1_Missense_Mutation_p.T122P|DHRS9_ENST00000357546.2_Missense_Mutation_p.T122P	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	122					9-cis-retinoic acid biosynthetic process (GO:0042904)|androgen metabolic process (GO:0008209)|epithelial cell differentiation (GO:0030855)|progesterone metabolic process (GO:0042448)|retinol metabolic process (GO:0042572)	integral component of endoplasmic reticulum membrane (GO:0030176)	alcohol dehydrogenase (NAD) activity (GO:0004022)|racemase and epimerase activity (GO:0016854)|retinol dehydrogenase activity (GO:0004745)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						GCTGGCTCCCACTGACTGGCT	0.473																																						ENST00000327239.4																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						c.(364-366)Act>Cct		dehydrogenase/reductase (SDR family) member 9							124.0	109.0	114.0					2																	169939889		2203	4300	6503	SO:0001583	missense	10170				9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity	g.chr2:169939889A>C	AF067174	CCDS2231.1, CCDS74600.1	2q31.1	2011-09-14			ENSG00000073737	ENSG00000073737		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	16888	protein-coding gene	gene with protein product	"""NADP-dependent retinol dehydrogenase/reductase"", ""3-alpha hydroxysteroid dehydrogenase"", ""retinol dehydrogenase homolog"", ""short chain dehydrogenase/reductase family 9C, member 4"""	612131				11304534, 11294878, 19027726	Standard	NM_001142270		Approved	RDHL, 3alpha-HSD, RETSDR8, RDH15, SDR9C4	uc010zde.2	Q9BPW9	OTTHUMG00000132180	ENST00000327239.4:c.364A>C	2.37:g.169939889A>C	ENSP00000316670:p.Thr122Pro					DHRS9_ENST00000412271.1_Missense_Mutation_p.T122P|DHRS9_ENST00000602501.1_Missense_Mutation_p.T122P|DHRS9_ENST00000436483.2_Missense_Mutation_p.T122P|DHRS9_ENST00000432060.2_Missense_Mutation_p.T182P|DHRS9_ENST00000421653.1_5'UTR|DHRS9_ENST00000357546.2_Missense_Mutation_p.T122P|DHRS9_ENST00000428522.1_Missense_Mutation_p.T122P	p.T122P	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN			6	1868	+			122					B7Z416|D3DPC1|Q5RKX1|Q9NRA9|Q9NRB0	Missense_Mutation	SNP	ENST00000327239.4	37	c.364A>C	CCDS2231.1	.	.	.	.	.	.	.	.	.	.	A	19.96	3.924002	0.73213	.	.	ENSG00000073737	ENST00000327239;ENST00000357546;ENST00000432060;ENST00000428522;ENST00000436483;ENST00000412271	D;D;D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25;-2.25;-2.25	5.84	5.84	0.93424	NAD(P)-binding domain (1);	0.566312	0.21451	N	0.074322	T	0.81927	0.4926	L	0.41356	1.27	0.30796	N	0.740445	B;B	0.24533	0.105;0.033	B;B	0.27608	0.081;0.053	T	0.77656	-0.2506	10	0.30854	T	0.27	.	11.0363	0.47802	0.8613:0.0:0.0:0.1387	.	182;122	B7Z416;Q9BPW9	.;DHRS9_HUMAN	P	122;122;182;122;122;122	ENSP00000316670:T122P;ENSP00000350154:T122P;ENSP00000389241:T182P;ENSP00000388564:T122P;ENSP00000407167:T122P;ENSP00000407747:T122P	ENSP00000316670:T122P	T	+	1	0	DHRS9	169648135	0.065000	0.20965	0.940000	0.37924	0.848000	0.48234	2.594000	0.46189	2.243000	0.73865	0.482000	0.46254	ACT		0.473	DHRS9-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333612.3	NM_005771		42	31	0	0	0	1	0	42	31				
ZNF333	84449	broad.mit.edu	37	19	14830055	14830055	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr19:14830055C>G	ENST00000292530.6	+	12	2007	c.1916C>G	c.(1915-1917)aCc>aGc	p.T639S	ZNF333_ENST00000536363.1_Missense_Mutation_p.T530S|ZNF333_ENST00000540689.2_Intron	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	639					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						CACAAAAGAACCCATGTGGGA	0.453																																					NSCLC(60;75 1281 16985 25154 29885)	ENST00000292530.6																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						c.(1915-1917)aCc>aGc		zinc finger protein 333							123.0	125.0	124.0					19																	14830055		2203	4300	6503	SO:0001583	missense	84449				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:14830055C>G		CCDS12316.1, CCDS74298.1	19p13	2013-01-08				ENSG00000160961		"""Zinc fingers, C2H2-type"", ""-"""	15624	protein-coding gene	gene with protein product		611811				12151103	Standard	XM_005260098		Approved	KIAA1806	uc002mzn.3	Q96JL9		ENST00000292530.6:c.1916C>G	19.37:g.14830055C>G	ENSP00000292530:p.Thr639Ser					ZNF333_ENST00000540689.2_Intron|ZNF333_ENST00000536363.1_Missense_Mutation_p.T530S	p.T639S	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN			12	2007	+			639					Q6P2E6|Q86WS6|Q8TDL0	Missense_Mutation	SNP	ENST00000292530.6	37	c.1916C>G	CCDS12316.1	.	.	.	.	.	.	.	.	.	.	C	12.51	1.959835	0.34565	.	.	ENSG00000160961	ENST00000536363;ENST00000292530	T;T	0.07567	3.18;3.18	2.61	-5.22	0.02806	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05823	0.0152	L	0.33753	1.03	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.32903	-0.9889	9	0.35671	T	0.21	.	8.2916	0.31960	0.0:0.1683:0.1265:0.7051	.	639	Q96JL9	ZN333_HUMAN	S	530;639	ENSP00000439749:T530S;ENSP00000292530:T639S	ENSP00000292530:T639S	T	+	2	0	ZNF333	14691055	0.000000	0.05858	0.000000	0.03702	0.723000	0.41478	-1.753000	0.01818	-1.929000	0.01057	0.655000	0.94253	ACC		0.453	ZNF333-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466496.1	NM_032433		7	67	0	0	0	1	0	7	67				
NLRC3	197358	broad.mit.edu	37	16	3606946	3606946	+	RNA	SNP	C	C	T			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr16:3606946C>T	ENST00000301749.7	-	0	2554				NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ATCTTCAAAGCGTCTGCCAGC	0.582																																						ENST00000301749.7																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34								NLR family, CARD domain containing 3							77.0	86.0	83.0					16																	3606946		1964	4151	6115			197358				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding	g.chr16:3606946C>T	BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"""Nucleotide-binding domain and leucine rich repeat containing"""	29889	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3"", ""NOD-like receptor C3"""	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3606946C>T						NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000603507.1_RNA		NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN			0	2554	-								Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	RNA	SNP	ENST00000301749.7	37			.	.	.	.	.	.	.	.	.	.	C	19.73	3.881219	0.72294	.	.	ENSG00000167984	ENST00000419350;ENST00000301749;ENST00000359128;ENST00000448023	T;T;T	0.55234	0.53;0.53;0.53	5.37	4.33	0.51752	.	0.066995	0.64402	D	0.000016	T	0.53642	0.1809	.	.	.	0.24939	N	0.991864	D	0.59767	0.986	P	0.48738	0.588	T	0.51795	-0.8660	9	0.44086	T	0.13	.	14.4091	0.67103	0.1577:0.8423:0.0:0.0	.	764	C9JLH9	.	T	717;717;717;764	ENSP00000301749:A717T;ENSP00000352039:A717T;ENSP00000414415:A764T	ENSP00000301749:A717T	A	-	1	0	NLRC3	3546947	0.998000	0.40836	0.970000	0.41538	0.470000	0.32858	4.111000	0.57838	2.539000	0.85634	0.644000	0.83932	GCT		0.582	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		NM_178844		11	10	0	0	0	1	0	11	10				
FRG1B	284802	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr20:29628300G>A	ENST00000278882.3	+	6	682	c.302G>A	c.(301-303)aGt>aAt	p.S101N	FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	101								p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.S101N(2)	prostate(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(301-303)aGt>aAt																																						SO:0001583	missense	0							g.chr20:29628300G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.302G>A	20.37:g.29628300G>A	ENSP00000278882:p.Ser101Asn					FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N	p.S101N							6	682	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.302G>A		.	.	.	.	.	.	.	.	.	.	g	10.56	1.384968	0.25031	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.125588	0.64402	N	0.000001	T	0.33265	0.0857	.	.	.	0.40357	D	0.979199	B;B	0.16802	0.003;0.019	B;B	0.16289	0.007;0.015	T	0.20605	-1.0270	9	0.33940	T	0.23	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	106;101	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	N	101;106;101	ENSP00000408863:S106N	ENSP00000278882:S101N	S	+	2	0	FRG1B	28241961	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	2.004000	0.40854	1.475000	0.48197	0.423000	0.28283	AGT		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	80	0	0	0	1	0	4	80				
KIAA1211	57482	broad.mit.edu	37	4	57179385	57179385	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr4:57179385G>A	ENST00000504228.1	+	5	482	c.377G>A	c.(376-378)cGg>cAg	p.R126Q	KIAA1211_ENST00000264229.6_Missense_Mutation_p.R126Q|KIAA1211_ENST00000541073.1_Missense_Mutation_p.R119Q			Q6ZU35	K1211_HUMAN	KIAA1211	126										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AAACCGTCTCGGCCAAAAAGG	0.537																																						ENST00000504228.1																			0				endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65						c.(376-378)cGg>cAg		KIAA1211							180.0	186.0	184.0					4																	57179385		1996	4158	6154	SO:0001583	missense	57482							g.chr4:57179385G>A	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.377G>A	4.37:g.57179385G>A	ENSP00000423366:p.Arg126Gln					KIAA1211_ENST00000541073.1_Missense_Mutation_p.R119Q|KIAA1211_ENST00000264229.6_Missense_Mutation_p.R126Q	p.R126Q			Q6ZU35	K1211_HUMAN			5	482	+	Glioma(25;0.08)|all_neural(26;0.101)		126					Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	c.377G>A	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.722233	0.89298	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.18810	2.19;2.19;2.21	5.37	5.37	0.77165	.	.	.	.	.	T	0.49847	0.1581	M	0.75264	2.295	0.53688	D	0.999972	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.52442	-0.8575	9	0.87932	D	0	-37.0122	19.1069	0.93300	0.0:0.0:1.0:0.0	.	119;119;126	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	Q	126;126;119;36	ENSP00000264229:R126Q;ENSP00000423366:R126Q;ENSP00000444006:R119Q	ENSP00000264229:R126Q	R	+	2	0	KIAA1211	56874142	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.597000	0.82733	2.518000	0.84900	0.555000	0.69702	CGG		0.537	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		10	100	0	0	0	1	0	10	100				
HDHD3	81932	broad.mit.edu	37	9	116136675	116136675	+	De_novo_Start_OutOfFrame	SNP	C	C	T	rs367560365		TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr9:116136675C>T	ENST00000238379.5	-	0	857				HDHD3_ENST00000485934.1_5'UTR|HDHD3_ENST00000374180.3_De_novo_Start_OutOfFrame	NM_031219.2	NP_112496.1	Q9BSH5	HDHD3_HUMAN	haloacid dehalogenase-like hydrolase domain containing 3							mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			large_intestine(2)|liver(1)	3						TCAGGTCCCACGGTGGGTCCC	0.587																																						ENST00000238379.5																			0				large_intestine(2)|liver(1)	3								haloacid dehalogenase-like hydrolase domain containing 3		C		1,4371		0,1,2185	28.0	19.0	22.0			0.7	0.0	9		22	0,8536		0,0,4268	no	utr-5	HDHD3	NM_031219.2		0,1,6453	TT,TC,CC		0.0,0.0229,0.0077			116136675	1,12907	2186	4268	6454			81932						phosphoglycolate phosphatase activity|protein binding	g.chr9:116136675C>T	AK097067	CCDS6793.1	9q33.1	2006-04-12	2004-08-09	2004-08-12	ENSG00000119431	ENSG00000119431			28171	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 158"""	C9orf158		12477932	Standard	NM_031219		Approved	MGC12904	uc004bhi.1	Q9BSH5	OTTHUMG00000020524	ENST00000238379.5:c.-41G>A	9.37:g.116136675C>T						HDHD3_ENST00000374180.3_De_novo_Start_OutOfFrame|HDHD3_ENST00000485934.1_5'UTR		NM_031219.2	NP_112496.1	Q9BSH5	HDHD3_HUMAN			0	857	-								B2RD47	Translation_Start_Site	SNP	ENST00000238379.5	37		CCDS6793.1																																																																																				0.587	HDHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053731.1	NM_031219		5	9	0	0	0	1	0	5	9				
OR4C15	81309	broad.mit.edu	37	11	55322861	55322861	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr11:55322861T>C	ENST00000314644.2	+	1	1079	c.1079T>C	c.(1078-1080)gTg>gCg	p.V360A		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	306						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						AGACTGATGGTGGTTTCTGAT	0.303										HNSCC(20;0.049)																												ENST00000314644.2																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						c.(1078-1080)gTg>gCg		olfactory receptor, family 4, subfamily C, member 15							46.0	46.0	46.0					11																	55322861		2201	4293	6494	SO:0001583	missense	81309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55322861T>C	BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.1079T>C	11.37:g.55322861T>C	ENSP00000324958:p.Val360Ala	HNSCC(20;0.049)					p.V360A	NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN			1	1079	+			306					Q6IFE2	Missense_Mutation	SNP	ENST00000314644.2	37	c.1079T>C	CCDS31501.1	.	.	.	.	.	.	.	.	.	.	T	10.56	1.384425	0.25031	.	.	ENSG00000181939	ENST00000314644	T	0.00004	9.81	4.8	0.874	0.19124	.	.	.	.	.	T	0.00039	0.0001	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.00195	-1.1932	9	0.29301	T	0.29	.	4.5078	0.11896	0.0:0.2043:0.1658:0.63	.	306	Q8NGM1	OR4CF_HUMAN	A	360	ENSP00000324958:V360A	ENSP00000324958:V360A	V	+	2	0	OR4C15	55079437	0.000000	0.05858	0.001000	0.08648	0.073000	0.16967	-0.170000	0.09897	0.328000	0.23435	0.323000	0.21402	GTG		0.303	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920		4	66	0	0	0	1	0	4	66				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			23	16	0	0	0	1	0	23	16				
AHDC1	27245	broad.mit.edu	37	1	27875316	27875316	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr1:27875316C>T	ENST00000247087.5	-	5	3907	c.3311G>A	c.(3310-3312)gGg>gAg	p.G1104E	AHDC1_ENST00000374011.2_Missense_Mutation_p.G1104E			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1104							DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CTGAGAAGCCCCCGCAAACTG	0.637																																						ENST00000374011.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(3310-3312)gGg>gAg		AT hook, DNA binding motif, containing 1							34.0	39.0	37.0					1																	27875316		2200	4295	6495	SO:0001583	missense	27245						DNA binding	g.chr1:27875316C>T	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.3311G>A	1.37:g.27875316C>T	ENSP00000247087:p.Gly1104Glu					AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_Missense_Mutation_p.G1104E	p.G1104E	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)	6	4279	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1104					Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Missense_Mutation	SNP	ENST00000247087.5	37	c.3311G>A	CCDS30652.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.688101	0.48097	.	.	ENSG00000126705	ENST00000247087;ENST00000374011	T;T	0.51325	0.71;0.71	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000014	T	0.50480	0.1618	N	0.24115	0.695	0.38682	D	0.952564	D	0.57571	0.98	P	0.54174	0.744	T	0.56347	-0.7994	10	0.72032	D	0.01	-12.9846	18.7978	0.92003	0.0:1.0:0.0:0.0	.	1104	Q5TGY3	AHDC1_HUMAN	E	1104	ENSP00000247087:G1104E;ENSP00000363123:G1104E	ENSP00000247087:G1104E	G	-	2	0	AHDC1	27747903	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.685000	0.54678	2.735000	0.93741	0.655000	0.94253	GGG		0.637	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			5	39	0	0	0	1	0	5	39				
OR14I1	401994	broad.mit.edu	37	1	248844917	248844917	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr1:248844917T>C	ENST00000342623.3	-	1	712	c.689A>G	c.(688-690)cAg>cGg	p.Q230R		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	230						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						TGCTCGACTCTGTCCTGAAGG	0.493																																						ENST00000342623.3																			0				NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						c.(688-690)cAg>cGg		olfactory receptor, family 14, subfamily I, member 1							86.0	86.0	86.0					1																	248844917		2203	4300	6503	SO:0001583	missense	401994				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248844917T>C		CCDS31125.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000189181	ENSG00000189181		"""GPCR / Class A : Olfactory receptors"""	19575	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BU, member 1"""	OR5BU1P, OR5BU1			Standard	NM_001004734		Approved		uc001ieu.1	A6ND48	OTTHUMG00000040378	ENST00000342623.3:c.689A>G	1.37:g.248844917T>C	ENSP00000339726:p.Gln230Arg						p.Q230R	NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN			1	712	-			230						Missense_Mutation	SNP	ENST00000342623.3	37	c.689A>G	CCDS31125.1	.	.	.	.	.	.	.	.	.	.	.	11.86	1.764047	0.31228	.	.	ENSG00000189181	ENST00000342623	T	0.00198	8.57	3.49	2.31	0.28768	GPCR, rhodopsin-like superfamily (1);	0.311790	0.22605	N	0.057903	T	0.00178	0.0005	L	0.51853	1.615	0.09310	N	1	B	0.23806	0.091	B	0.33121	0.158	T	0.32161	-0.9917	10	0.44086	T	0.13	.	4.0111	0.09623	0.2117:0.0:0.2189:0.5694	.	230	A6ND48	O14I1_HUMAN	R	230	ENSP00000339726:Q230R	ENSP00000339726:Q230R	Q	-	2	0	OR14I1	246911540	0.000000	0.05858	0.002000	0.10522	0.271000	0.26615	0.004000	0.13106	0.379000	0.24794	0.443000	0.29094	CAG		0.493	OR14I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097128.1	NM_001004734		5	63	0	0	0	1	0	5	63				
CEACAM1	634	broad.mit.edu	37	19	43009588	43009589	+	IGR	INS	-	-	T			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr19:43009588_43009589insT	ENST00000161559.6	-	0	3519				LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)						angiogenesis (GO:0001525)|cell migration (GO:0016477)|homophilic cell adhesion (GO:0007156)|integrin-mediated signaling pathway (GO:0007229)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	GAAGAAACttcttttttttctt	0.455																																						ENST00000594688.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr19:43009588_43009589insT	M72238	CCDS12609.1, CCDS46089.1, CCDS54272.1, CCDS54273.1, CCDS54274.1	19q13.2	2014-05-16			ENSG00000079385	ENSG00000079385		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1814	protein-coding gene	gene with protein product		109770		BGP		2457922, 2025273	Standard	NM_001712		Approved	BGP1, CD66a	uc002otv.3	P13688	OTTHUMG00000151078		19.37:g.43009596_43009596dupT						LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000594624.2_RNA		NR_073179.1						0	1450	+								A6NE38|A8MY49|O60430|Q069I7|Q13854|Q13857|Q13858|Q13859|Q13860|Q15600|Q15601|Q16170|Q5UB49|Q7KYP5|Q96CA7|Q9UQV9	RNA	INS	ENST00000161559.6	37		CCDS12609.1																																																																																				0.455	CEACAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321190.2	NM_001712		2	4						2	4	---	---	---	---
ZNF444	55311	broad.mit.edu	37	19	56658436	56658436	+	Frame_Shift_Del	DEL	G	G	-			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr19:56658436delG	ENST00000337080.3	+	3	523	c.156delG	c.(154-156)gagfs	p.E52fs	ZNF444_ENST00000592949.1_Frame_Shift_Del_p.E52fs	NM_001253792.1|NM_018337.3	NP_001240721.1|NP_060807.2	Q8N0Y2	ZN444_HUMAN	zinc finger protein 444	52	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|endometrium(1)|lung(5)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0531)		TGCGGCCCGAGGTGCACACCA	0.746																																						ENST00000337080.3																			0				NS(1)|endometrium(1)|lung(5)	7						c.(154-156)gafs		zinc finger protein 444							10.0	10.0	10.0					19																	56658436		2155	4242	6397	SO:0001589	frameshift_variant	55311				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56658436delG	AB052954	CCDS12939.1, CCDS59426.1	19q13.43	2013-01-09			ENSG00000167685	ENSG00000167685		"""-"", ""Zinc fingers, C2H2-type"""	16052	protein-coding gene	gene with protein product		607874				11978792, 19760602	Standard	NM_001253792		Approved	ZSCAN17, FLJ11137, EZF2	uc002qmm.3	Q8N0Y2		ENST00000337080.3:c.156delG	19.37:g.56658436delG	ENSP00000338860:p.Glu52fs					ZNF444_ENST00000592949.1_Frame_Shift_Del_p.E52fs	p.E52fs	NM_001253792.1|NM_018337.3	NP_001240721.1|NP_060807.2	Q8N0Y2	ZN444_HUMAN		GBM - Glioblastoma multiforme(193;0.0531)	3	523	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	52			SCAN box.		Q8TEQ9|Q8WU35|Q9NUU1	Frame_Shift_Del	DEL	ENST00000337080.3	37	c.156delG	CCDS12939.1																																																																																				0.746	ZNF444-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457503.1	NM_018337		2	4						2	4	---	---	---	---
