#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
ZDHHC24	254359	broad.mit.edu	37	11	66307235	66307235	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A80M-01A-11D-A35I-08	TCGA-WB-A80M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbee6b0-22b5-4a22-a79d-88867205e64b	01134613-e4be-423c-8a3f-0c3307fcb112	g.chr11:66307235G>A	ENST00000310442.3	-	3	854	c.620C>T	c.(619-621)gCg>gTg	p.A207V	CTD-3074O7.12_ENST00000602427.1_lincRNA|ZDHHC24_ENST00000526986.1_Intron|ZDHHC24_ENST00000525925.1_5'Flank	NM_207340.1	NP_997223.1	Q6UX98	ZDH24_HUMAN	zinc finger, DHHC-type containing 24	207	Leu-rich.					integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|ovary(1)|prostate(1)|skin(1)	7						GCACAGCAGCGCACCCGCCAC	0.647																																						ENST00000310442.3																			0				endometrium(1)|large_intestine(3)|ovary(1)|prostate(1)|skin(1)	7						c.(619-621)gCg>gTg		zinc finger, DHHC-type containing 24							25.0	28.0	27.0					11																	66307235		2200	4293	6493	SO:0001583	missense	254359					integral to membrane	acyltransferase activity|zinc ion binding	g.chr11:66307235G>A	BC005015	CCDS8143.1	11q13.2	2008-05-02				ENSG00000174165		"""Zinc fingers, DHHC-type"""	27387	protein-coding gene	gene with protein product							Standard	NM_207340		Approved		uc001oin.1	Q6UX98		ENST00000310442.3:c.620C>T	11.37:g.66307235G>A	ENSP00000309429:p.Ala207Val					ZDHHC24_ENST00000526986.1_Intron	p.A207V	NM_207340.1	NP_997223.1	Q6UX98	ZDH24_HUMAN			3	854	-			207			Leu-rich.		Q6PEW7|Q9BSJ0	Missense_Mutation	SNP	ENST00000310442.3	37	c.620C>T	CCDS8143.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.129272	0.56721	.	.	ENSG00000174165	ENST00000310442	T	0.22743	1.94	5.25	4.34	0.51931	.	0.253331	0.38897	N	0.001527	T	0.18087	0.0434	L	0.31420	0.93	0.23036	N	0.998394	D	0.56746	0.977	P	0.49047	0.599	T	0.07770	-1.0755	10	0.13853	T	0.58	-9.1857	9.5795	0.39479	0.0967:0.0:0.9033:0.0	.	207	Q6UX98	ZDH24_HUMAN	V	207	ENSP00000309429:A207V	ENSP00000309429:A207V	A	-	2	0	ZDHHC24	66063811	0.997000	0.39634	0.132000	0.22025	0.764000	0.43329	3.843000	0.55865	1.199000	0.43173	0.561000	0.74099	GCG		0.647	ZDHHC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393089.1	NM_207340		3	20	0	0	0	1	0	3	20				
WDFY3	23001	broad.mit.edu	37	4	85636525	85636525	+	Silent	SNP	C	C	A			TCGA-WB-A80M-01A-11D-A35I-08	TCGA-WB-A80M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbee6b0-22b5-4a22-a79d-88867205e64b	01134613-e4be-423c-8a3f-0c3307fcb112	g.chr4:85636525C>A	ENST00000295888.4	-	50	8294	c.7887G>T	c.(7885-7887)gtG>gtT	p.V2629V	WDFY3_ENST00000322366.6_Silent_p.V2612V	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2629	Interaction with SQSTM1.|Sufficient for translocalization to p62 bodies/ALIS.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AGAAAACTTCCACAGCAATAG	0.318																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(7834-7836)gtG>gtT		WD repeat and FYVE domain containing 3							78.0	83.0	81.0					4																	85636525		2203	4300	6503	SO:0001819	synonymous_variant	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85636525C>A	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.7887G>T	4.37:g.85636525C>A						WDFY3_ENST00000295888.4_Silent_p.V2629V	p.V2612V			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	49	8243	-		Hepatocellular(203;0.114)	2629					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Silent	SNP	ENST00000295888.4	37	c.7836G>T	CCDS3609.1																																																																																				0.318	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		26	26	1	0	2.27525e-19	1	2.37867e-19	26	26				
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T	rs201788045		TCGA-WB-A80M-01A-11D-A35I-08	TCGA-WB-A80M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbee6b0-22b5-4a22-a79d-88867205e64b	01134613-e4be-423c-8a3f-0c3307fcb112	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358																																						ENST00000358970.5																			12	Substitution - Missense(12)	p.R477Q(12)	endometrium(4)|kidney(3)|urinary_tract(2)|prostate(2)|soft_tissue(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1429-1431)cGg>cAg		POTE ankyrin domain family, member C							13.0	9.0	10.0					18																	14513764		683	1543	2226	SO:0001583	missense	388468							g.chr18:14513764C>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1430G>A	18.37:g.14513764C>T	ENSP00000351856:p.Arg477Gln						p.R477Q	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			10	1429	-			477						Missense_Mutation	SNP	ENST00000358970.5	37	c.1430G>A	CCDS45835.1	492	0.22527472527472528	61	0.12398373983739837	82	0.2265193370165746	187	0.3269230769230769	162	0.21372031662269128	c	0.001	-3.539655	0.00009	.	.	ENSG00000183206	ENST00000358970	T	0.20881	2.04	1.34	0.0657	0.14358	.	.	.	.	.	T	0.00012	0.0000	N	0.00116	-2.08	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42430	-0.9452	9	0.06757	T	0.87	.	3.4153	0.07373	0.0:0.2473:0.0:0.7527	.	477	B2RU33	POTEC_HUMAN	Q	477	ENSP00000351856:R477Q	ENSP00000351856:R477Q	R	-	2	0	POTEC	14503764	0.885000	0.30320	0.063000	0.19743	0.005000	0.04900	1.581000	0.36558	0.005000	0.14708	-1.615000	0.00797	CGG		0.358	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		5	106	0	0	0	1	0	5	106				
CYP2U1	113612	broad.mit.edu	37	4	108866589	108866589	+	Silent	SNP	A	A	T			TCGA-WB-A80M-01A-11D-A35I-08	TCGA-WB-A80M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbee6b0-22b5-4a22-a79d-88867205e64b	01134613-e4be-423c-8a3f-0c3307fcb112	g.chr4:108866589A>T	ENST00000332884.6	+	2	1229	c.954A>T	c.(952-954)atA>atT	p.I318I	RP11-286E11.1_ENST00000513071.1_RNA|CYP2U1_ENST00000508453.1_Silent_p.I109I	NM_183075.2	NP_898898.1	Q7Z449	CP2U1_HUMAN	cytochrome P450, family 2, subfamily U, polypeptide 1	318					arachidonic acid metabolic process (GO:0019369)|cell death (GO:0008219)|omega-hydroxylase P450 pathway (GO:0097267)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		AGGACTTCATAGACATGTACC	0.348																																						ENST00000332884.6																			0				breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10						c.(952-954)atA>atT		cytochrome P450, family 2, subfamily U, polypeptide 1							66.0	66.0	66.0					4																	108866589		2203	4300	6503	SO:0001819	synonymous_variant	113612				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr4:108866589A>T	BC012027	CCDS34047.1	4q25	2012-11-23			ENSG00000155016	ENSG00000155016		"""Cytochrome P450s"""	20582	protein-coding gene	gene with protein product	"""spastic paraplegia 49"""	610670				14975754, 14660610	Standard	XM_005262717		Approved	SPG49	uc003hyp.3	Q7Z449	OTTHUMG00000161084	ENST00000332884.6:c.954A>T	4.37:g.108866589A>T						RP11-286E11.1_ENST00000513071.1_RNA|CYP2U1_ENST00000508453.1_Silent_p.I109I	p.I318I	NM_183075.2	NP_898898.1	Q7Z449	CP2U1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000128)	2	1229	+		Hepatocellular(203;0.217)	318					B2RMV7|Q96EQ6	Silent	SNP	ENST00000332884.6	37	c.954A>T	CCDS34047.1																																																																																				0.348	CYP2U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363691.2	NM_183075		4	51	0	0	0	1	0	4	51				
RP11-156P1.2	0	broad.mit.edu	37	17	45127107	45127107	+	IGR	SNP	C	C	G	rs374963948		TCGA-WB-A80M-01A-11D-A35I-08	TCGA-WB-A80M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbee6b0-22b5-4a22-a79d-88867205e64b	01134613-e4be-423c-8a3f-0c3307fcb112	g.chr17:45127107C>G	ENST00000571841.1	+	0	889				RP11-156P1.3_ENST00000575173.1_RNA|LRRC37A17P_ENST00000570478.1_RNA																							CCTTCGTTCACCCAAGAGCAT	0.592																																						ENST00000575173.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr17:45127107C>G																													17.37:g.45127107C>G														0	418	-									RNA	SNP	ENST00000571841.1	37																																																																																						0.592	RP11-156P1.2-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000440447.1			5	43	0	0	0	1	0	5	43				
POM121	9883	broad.mit.edu	37	7	72398976	72398976	+	Missense_Mutation	SNP	A	A	G	rs147859349		TCGA-WB-A80M-01A-11D-A35I-08	TCGA-WB-A80M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbee6b0-22b5-4a22-a79d-88867205e64b	01134613-e4be-423c-8a3f-0c3307fcb112	g.chr7:72398976A>G	ENST00000434423.2	+	4	1076	c.1076A>G	c.(1075-1077)aAt>aGt	p.N359S	POM121_ENST00000395270.1_Missense_Mutation_p.N94S|POM121_ENST00000358357.3_Missense_Mutation_p.N94S|POM121_ENST00000446813.1_Missense_Mutation_p.N94S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	359	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CTGGTGGCCAATGGAGTCCCC	0.468													.|||	1	0.000199681	0.0008	0.0	5008	,	,		16715	0.0		0.0	False		,,,				2504	0.0					ENST00000395270.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(280-282)aAt>aGt		POM121 transmembrane nucleoporin							189.0	188.0	188.0					7																	72398976		2203	4300	6503	SO:0001583	missense	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72398976A>G	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.1076A>G	7.37:g.72398976A>G	ENSP00000405562:p.Asn359Ser					POM121_ENST00000358357.3_Missense_Mutation_p.N94S|POM121_ENST00000446813.1_Missense_Mutation_p.N94S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S|POM121_ENST00000434423.2_Missense_Mutation_p.N359S	p.N94S	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN			7	1322	+		Lung NSC(55;0.163)	359			Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	37	c.281A>G		.	.	.	.	.	.	.	.	.	.	G	12.65	2.002131	0.35320	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.14266	2.52;2.52;2.52;2.52;2.52	3.99	3.99	0.46301	.	0.154071	0.30020	N	0.010614	T	0.13457	0.0326	L	0.57536	1.79	0.32153	N	0.584002	B;B	0.31193	0.312;0.006	B;B	0.26202	0.067;0.053	T	0.08066	-1.0740	10	0.30078	T	0.28	.	10.8045	0.46509	1.0:0.0:0.0:0.0	.	94;359	A8MXF9;Q96HA1	.;P121A_HUMAN	S	94;94;94;94;359	ENSP00000393020:N94S;ENSP00000257622:N94S;ENSP00000378687:N94S;ENSP00000351124:N94S;ENSP00000405562:N359S	ENSP00000257622:N94S	N	+	2	0	POM121	72036912	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	5.143000	0.64826	1.663000	0.50791	0.373000	0.22412	AAT		0.468	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			5	144	0	0	0	1	0	5	144				
MRI1	84245	broad.mit.edu	37	19	13879776	13879776	+	Missense_Mutation	SNP	G	G	A	rs201162998		TCGA-WB-A80M-01A-11D-A35I-08	TCGA-WB-A80M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbee6b0-22b5-4a22-a79d-88867205e64b	01134613-e4be-423c-8a3f-0c3307fcb112	g.chr19:13879776G>A	ENST00000040663.6	+	5	903	c.863G>A	c.(862-864)cGt>cAt	p.R288H	MRI1_ENST00000319545.8_Missense_Mutation_p.R241H	NM_001031727.2	NP_001026897.1			methylthioribose-1-phosphate isomerase 1											breast(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						TGTGACCTCCGTCTGGAGACC	0.592																																						ENST00000319545.8																			0				breast(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						c.(721-723)cGt>cAt		methylthioribose-1-phosphate isomerase 1		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	74.0	58.0	63.0		863,722	-3.9	0.0	19		63	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	MRI1	NM_001031727.2,NM_032285.2	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	288/370,241/323	13879776	1,13005	2203	4300	6503	SO:0001583	missense	84245				L-methionine salvage from methylthioadenosine	cell projection|cytoplasm|nucleus	identical protein binding|S-methyl-5-thioribose-1-phosphate isomerase activity	g.chr19:13879776G>A		CCDS12297.1, CCDS32923.1	19p13.13	2013-05-29	2013-05-29			ENSG00000037757	5.3.1.23		28469	protein-coding gene	gene with protein product	"""mediator of RhoA-dependent invasion"", ""S-methyl-5-thioribose-1-phosphate isomerase 1"""	615105	"""methylthioribose-1-phosphate isomerase homolog (S. cerevisiae)"""			15215245, 19620624, 23124037	Standard	XR_244089		Approved	MGC3207, Ypr118w, mtnA, MRDI	uc002mxe.3	Q9BV20		ENST00000040663.6:c.863G>A	19.37:g.13879776G>A	ENSP00000040663:p.Arg288His					MRI1_ENST00000040663.6_Missense_Mutation_p.R288H	p.R241H	NM_032285.2	NP_115661.1	Q9BV20	MTNA_HUMAN			5	779	+			288						Missense_Mutation	SNP	ENST00000040663.6	37	c.722G>A	CCDS32923.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.982829	0.34942	0.0	1.16E-4	ENSG00000037757	ENST00000040663;ENST00000319545	D;D	0.93247	-3.19;-3.19	5.38	-3.91	0.04168	.	0.290162	0.41097	N	0.000945	D	0.85035	0.5605	N	0.25647	0.755	0.20563	N	0.999887	B;B	0.25007	0.116;0.001	B;B	0.22880	0.042;0.001	T	0.71889	-0.4456	10	0.42905	T	0.14	-19.7313	10.9801	0.47488	0.4903:0.0:0.5097:0.0	.	241;288	Q9BV20-2;Q9BV20	.;MTNA_HUMAN	H	288;241	ENSP00000040663:R288H;ENSP00000314871:R241H	ENSP00000040663:R288H	R	+	2	0	MRI1	13740776	0.196000	0.23350	0.008000	0.14137	0.572000	0.35998	0.384000	0.20668	-0.873000	0.04032	-0.424000	0.05967	CGT		0.592	MRI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453424.1	NM_032285		17	13	0	0	0	1	0	17	13				
PLCL1	5334	broad.mit.edu	37	2	198950399	198950399	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A80M-01A-11D-A35I-08	TCGA-WB-A80M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbee6b0-22b5-4a22-a79d-88867205e64b	01134613-e4be-423c-8a3f-0c3307fcb112	g.chr2:198950399C>T	ENST00000428675.1	+	2	2556	c.2158C>T	c.(2158-2160)Cct>Tct	p.P720S	PLCL1_ENST00000437704.2_Missense_Mutation_p.P622S	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	720	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TGGGGTGTCTCCTCTAGCTCT	0.448																																						ENST00000428675.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(2158-2160)Cct>Tct		phospholipase C-like 1	Quinacrine(DB01103)						76.0	78.0	77.0					2																	198950399		2203	4300	6503	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198950399C>T	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.2158C>T	2.37:g.198950399C>T	ENSP00000402861:p.Pro720Ser					PLCL1_ENST00000437704.2_Missense_Mutation_p.P622S	p.P720S	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN			2	2556	+			720			C2.		Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.2158C>T	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	C	18.45	3.626287	0.66901	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.18810	2.19;2.21	5.36	5.36	0.76844	C2 membrane targeting protein (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000006	T	0.43809	0.1264	L	0.59436	1.845	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.68621	0.959;0.959	T	0.06570	-1.0819	9	.	.	.	.	19.2914	0.94102	0.0:1.0:0.0:0.0	.	720;646	Q15111;B4DYZ4	PLCL1_HUMAN;.	S	720;622	ENSP00000402861:P720S;ENSP00000414138:P622S	.	P	+	1	0	PLCL1	198658644	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.641000	0.83368	2.793000	0.96121	0.561000	0.74099	CCT		0.448	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		37	51	0	0	0	1	0	37	51				
OMD	4958	broad.mit.edu	37	9	95179741	95179741	+	Missense_Mutation	SNP	C	C	G			TCGA-WB-A80M-01A-11D-A35I-08	TCGA-WB-A80M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbee6b0-22b5-4a22-a79d-88867205e64b	01134613-e4be-423c-8a3f-0c3307fcb112	g.chr9:95179741C>G	ENST00000375550.4	-	2	375	c.100G>C	c.(100-102)Gag>Cag	p.E34Q	CENPP_ENST00000375587.3_Intron	NM_005014.2	NP_005005.1	Q99983	OMD_HUMAN	osteomodulin	34					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						TCATCTGGCTCTTGGTCATAG	0.363			T	USP6	aneurysmal bone cysts																																	ENST00000375550.4				Dom	yes		9	9q22.31	4958	T	osteomodulin			M	USP6		aneurysmal bone cysts		0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						c.(100-102)Gag>Cag		osteomodulin							106.0	94.0	98.0					9																	95179741		2203	4300	6503	SO:0001583	missense	4958				cell adhesion	proteinaceous extracellular matrix		g.chr9:95179741C>G	AB000114	CCDS6696.1	9q22.31	2008-02-05			ENSG00000127083	ENSG00000127083		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	8134	protein-coding gene	gene with protein product	"""osteoadherin proteoglycan"""						Standard	NM_005014		Approved	osteoadherin, SLRR2C	uc004asd.4	Q99983	OTTHUMG00000020225	ENST00000375550.4:c.100G>C	9.37:g.95179741C>G	ENSP00000364700:p.Glu34Gln					CENPP_ENST00000375587.3_Intron	p.E34Q	NM_005014.2	NP_005005.1	Q99983	OMD_HUMAN			2	375	-			34					Q5TBF4	Missense_Mutation	SNP	ENST00000375550.4	37	c.100G>C	CCDS6696.1	.	.	.	.	.	.	.	.	.	.	c	15.20	2.763749	0.49574	.	.	ENSG00000127083	ENST00000375550	T	0.39592	1.07	5.31	5.31	0.75309	.	0.234790	0.33875	N	0.004463	T	0.36936	0.0985	L	0.34521	1.04	0.35412	D	0.792521	B	0.20052	0.041	B	0.19666	0.026	T	0.35871	-0.9771	10	0.37606	T	0.19	-3.8309	18.9612	0.92678	0.0:1.0:0.0:0.0	.	34	Q99983	OMD_HUMAN	Q	34	ENSP00000364700:E34Q	ENSP00000364700:E34Q	E	-	1	0	OMD	94219562	0.996000	0.38824	0.988000	0.46212	0.941000	0.58515	3.255000	0.51484	2.650000	0.89964	0.585000	0.79938	GAG		0.363	OMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053090.1	NM_005014		23	31	0	0	0	1	0	23	31				
OR1J1	347168	broad.mit.edu	37	9	125239932	125239932	+	Missense_Mutation	SNP	C	C	T	rs373376555		TCGA-WB-A80M-01A-11D-A35I-08	TCGA-WB-A80M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbee6b0-22b5-4a22-a79d-88867205e64b	01134613-e4be-423c-8a3f-0c3307fcb112	g.chr9:125239932C>T	ENST00000259357.2	-	1	303	c.274G>A	c.(274-276)Gtc>Atc	p.V92I	RP11-542K23.9_ENST00000412262.2_RNA	NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J, member 1	92						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						TTGTAAAAGACGGCTAGGTGC	0.423																																						ENST00000259357.2																			0				endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(274-276)Gtc>Atc		olfactory receptor, family 1, subfamily J, member 1		T	ILE/VAL	1,4405	826.1+/-416.6	0,1,2202	143.0	122.0	129.0		274	3.3	0.0	9		129	0,8600		0,0,4300	no	missense	OR1J1	NM_001004451.1	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	92/323	125239932	1,13005	2203	4300	6503	SO:0001583	missense	347168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125239932C>T	AL353767	CCDS35120.1	9q33.2	2013-09-20			ENSG00000136834	ENSG00000136834		"""GPCR / Class A : Olfactory receptors"""	8208	protein-coding gene	gene with protein product							Standard	NM_001004451		Approved	hg32	uc011lyu.2	Q8NGS3	OTTHUMG00000020603	ENST00000259357.2:c.274G>A	9.37:g.125239932C>T	ENSP00000259357:p.Val92Ile						p.V92I	NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN			1	303	-			92					A3KFL8|Q6IF10|Q96R88	Missense_Mutation	SNP	ENST00000259357.2	37	c.274G>A	CCDS35120.1	.	.	.	.	.	.	.	.	.	.	T	0.007	-1.999102	0.00435	2.27E-4	0.0	ENSG00000136834	ENST00000259357	T	0.00352	7.95	4.46	3.31	0.37934	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	N	0.000016	T	0.00039	0.0001	N	0.00025	-2.685	0.22866	N	0.998639	B	0.02656	0.0	B	0.04013	0.001	T	0.40213	-0.9575	10	0.02654	T	1	.	8.4619	0.32934	0.0:0.167:0.0:0.833	.	92	Q8NGS3	OR1J1_HUMAN	I	92	ENSP00000259357:V92I	ENSP00000259357:V92I	V	-	1	0	OR1J1	124279753	0.956000	0.32656	0.021000	0.16686	0.004000	0.04260	2.039000	0.41193	0.339000	0.23719	-0.446000	0.05623	GTC		0.423	OR1J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053931.1			30	52	0	0	0	1	0	30	52				
ZFYVE28	57732	broad.mit.edu	37	4	2306616	2306616	+	Nonsense_Mutation	SNP	G	G	T	rs377484299		TCGA-WB-A80M-01A-11D-A35I-08	TCGA-WB-A80M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbee6b0-22b5-4a22-a79d-88867205e64b	01134613-e4be-423c-8a3f-0c3307fcb112	g.chr4:2306616G>T	ENST00000290974.2	-	8	1790	c.1451C>A	c.(1450-1452)tCg>tAg	p.S484*	ZFYVE28_ENST00000511071.1_Nonsense_Mutation_p.S454*|ZFYVE28_ENST00000515312.1_Nonsense_Mutation_p.S414*|RP11-478C1.7_ENST00000510632.1_RNA	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	484					negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GTGCAGCCGCGAGTCCAGGCA	0.662																																						ENST00000290974.2																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						c.(1450-1452)tCg>tAg		zinc finger, FYVE domain containing 28							39.0	41.0	40.0					4																	2306616		2123	4160	6283	SO:0001587	stop_gained	57732				negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr4:2306616G>T	AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"""Zinc fingers, FYVE domain containing"""	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.1451C>A	4.37:g.2306616G>T	ENSP00000290974:p.Ser484*					RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000511071.1_Nonsense_Mutation_p.S454*|ZFYVE28_ENST00000515312.1_Nonsense_Mutation_p.S414*	p.S484*	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN			8	1790	-			484					B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Nonsense_Mutation	SNP	ENST00000290974.2	37	c.1451C>A	CCDS33942.1	.	.	.	.	.	.	.	.	.	.	G	37	6.326430	0.97476	.	.	ENSG00000159733	ENST00000290974;ENST00000511071;ENST00000515312	.	.	.	4.4	3.53	0.40419	.	0.721171	0.13644	N	0.372798	.	.	.	.	.	.	0.39274	D	0.964442	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3809	0.60766	0.0:0.1592:0.8408:0.0	.	.	.	.	X	484;454;414	.	ENSP00000290974:S484X	S	-	2	0	ZFYVE28	2276414	0.464000	0.25807	0.169000	0.22859	0.198000	0.23893	2.716000	0.47219	1.030000	0.39839	0.405000	0.27470	TCG		0.662	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360078.1	XM_035371		3	57	1	0	1	1	1	3	57				
TUBGCP6	85378	broad.mit.edu	37	22	50659143	50659143	+	Silent	SNP	G	G	A			TCGA-WB-A80M-01A-11D-A35I-08	TCGA-WB-A80M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbee6b0-22b5-4a22-a79d-88867205e64b	01134613-e4be-423c-8a3f-0c3307fcb112	g.chr22:50659143G>A	ENST00000248846.5	-	16	3749	c.3645C>T	c.(3643-3645)caC>caT	p.H1215H	TUBGCP6_ENST00000439308.2_Silent_p.H1215H|TUBGCP6_ENST00000491449.1_5'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1215	9 X 27 AA tandem repeats.				G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		ACACATGTCCGTGGGTGTTCC	0.622																																						ENST00000439308.2																			0				breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45						c.(3643-3645)caC>caT		tubulin, gamma complex associated protein 6							76.0	67.0	70.0					22																	50659143		2203	4300	6503	SO:0001819	synonymous_variant	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50659143G>A	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.3645C>T	22.37:g.50659143G>A						TUBGCP6_ENST00000248846.5_Silent_p.H1215H|TUBGCP6_ENST00000491449.1_5'UTR	p.H1215H	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	16	4137	-		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1215			9 X 27 AA tandem repeats.		Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Silent	SNP	ENST00000248846.5	37	c.3645C>T	CCDS14087.1																																																																																				0.622	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		3	55	0	0	0	1	0	3	55				
CSDE1	7812	broad.mit.edu	37	1	115267956	115267956	+	Splice_Site	SNP	T	T	A			TCGA-WB-A80M-01A-11D-A35I-08	TCGA-WB-A80M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbee6b0-22b5-4a22-a79d-88867205e64b	01134613-e4be-423c-8a3f-0c3307fcb112	g.chr1:115267956T>A	ENST00000358528.4	-	15	2067		c.e15-2		CSDE1_ENST00000530886.1_Splice_Site|CSDE1_ENST00000261443.5_Splice_Site|Y_RNA_ENST00000365030.1_RNA|CSDE1_ENST00000369530.1_Splice_Site|CSDE1_ENST00000534699.1_Splice_Site|CSDE1_ENST00000438362.2_Splice_Site|CSDE1_ENST00000339438.6_Splice_Site	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding						male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGAACTCACTAAGGAGAAAG	0.403																																						ENST00000438362.2																			0				NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51						c.e15-2		cold shock domain containing E1, RNA-binding							147.0	138.0	141.0					1																	115267956		2203	4300	6503	SO:0001630	splice_region_variant	7812				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding	g.chr1:115267956T>A		CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"""upstream of NRAS"""	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.1641-2A>T	1.37:g.115267956T>A						CSDE1_ENST00000339438.6_Splice_Site|CSDE1_ENST00000534699.1_Splice_Site|CSDE1_ENST00000261443.5_Splice_Site|CSDE1_ENST00000530886.1_Splice_Site|CSDE1_ENST00000358528.4_Splice_Site|CSDE1_ENST00000369530.1_Splice_Site		NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	15	2157	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)						A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Splice_Site	SNP	ENST00000358528.4	37		CCDS30812.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.350445	0.82132	.	.	ENSG00000009307	ENST00000339438;ENST00000438362;ENST00000358528;ENST00000261443;ENST00000530886;ENST00000369530;ENST00000534699	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8019	0.78458	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CSDE1	115069479	1.000000	0.71417	0.923000	0.36655	0.970000	0.65996	7.320000	0.79064	2.133000	0.65898	0.455000	0.32223	.		0.403	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	NM_007158	Intron	50	17	0	0	0	1	0	50	17				
IFIT3	3437	broad.mit.edu	37	10	91099316	91099316	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A80M-01A-11D-A35I-08	TCGA-WB-A80M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbee6b0-22b5-4a22-a79d-88867205e64b	01134613-e4be-423c-8a3f-0c3307fcb112	g.chr10:91099316G>A	ENST00000371818.4	+	2	1084	c.904G>A	c.(904-906)Gga>Aga	p.G302R	IFIT3_ENST00000371811.4_Missense_Mutation_p.G302R|LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN	interferon-induced protein with tetratricopeptide repeats 3	302					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						TGAAGCTAGTGGAAATAAAGA	0.413																																						ENST00000371818.4																			0				breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						c.(904-906)Gga>Aga		interferon-induced protein with tetratricopeptide repeats 3							76.0	69.0	72.0					10																	91099316		2203	4300	6503	SO:0001583	missense	3437				type I interferon-mediated signaling pathway		protein binding	g.chr10:91099316G>A	U52513	CCDS7402.1, CCDS31241.1	10q23.31	2014-05-22	2004-07-16	2004-07-16	ENSG00000119917	ENSG00000119917		"""Tetratricopeptide (TTC) repeat domain containing"""	5411	protein-coding gene	gene with protein product		604650	"""interferon-induced protein with tetratricopeptide repeats 4"""	IFIT4		9828129, 9391139	Standard	NM_001031683		Approved	ISG60, RIG-G, CIG-49, IFI60, GARG-49, IRG2	uc001kgg.3	O14879	OTTHUMG00000018708	ENST00000371818.4:c.904G>A	10.37:g.91099316G>A	ENSP00000360883:p.Gly302Arg					LIPA_ENST00000371837.1_Intron|IFIT3_ENST00000371811.4_Missense_Mutation_p.G302R|LIPA_ENST00000487618.1_Intron	p.G302R	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN			2	1084	+			302					Q99634|Q9BSK7	Missense_Mutation	SNP	ENST00000371818.4	37	c.904G>A	CCDS7402.1	.	.	.	.	.	.	.	.	.	.	G	10.00	1.233171	0.22626	.	.	ENSG00000119917	ENST00000371818;ENST00000371811;ENST00000543062	T;T	0.12879	2.64;2.64	4.06	0.994	0.19832	Tetratricopeptide-like helical (1);	1.203990	0.06292	N	0.699293	T	0.13372	0.0324	N	0.25201	0.72	0.09310	N	1	P	0.35944	0.529	P	0.46585	0.521	T	0.40496	-0.9560	10	0.33141	T	0.24	-1.0059	3.3622	0.07190	0.0854:0.2541:0.4014:0.2591	.	302	O14879	IFIT3_HUMAN	R	302;302;123	ENSP00000360883:G302R;ENSP00000360876:G302R	ENSP00000360876:G302R	G	+	1	0	IFIT3	91089296	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.042000	0.12063	0.219000	0.20840	0.651000	0.88453	GGA		0.413	IFIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049294.1	NM_001549		31	17	0	0	0	1	0	31	17				
REPS1	85021	broad.mit.edu	37	6	139266690	139266690	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A80M-01A-11D-A35I-08	TCGA-WB-A80M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbee6b0-22b5-4a22-a79d-88867205e64b	01134613-e4be-423c-8a3f-0c3307fcb112	g.chr6:139266690T>C	ENST00000450536.2	-	3	996	c.422A>G	c.(421-423)aAg>aGg	p.K141R	REPS1_ENST00000258062.5_Missense_Mutation_p.K141R|REPS1_ENST00000415951.2_Missense_Mutation_p.K141R|REPS1_ENST00000409812.2_Missense_Mutation_p.K141R|REPS1_ENST00000531675.1_5'Flank|REPS1_ENST00000367663.4_Missense_Mutation_p.K141R			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	141					receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|SH3 domain binding (GO:0017124)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		TACGGATCCCTTTTTCACTTG	0.478																																						ENST00000450536.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19						c.(421-423)aAg>aGg		RALBP1 associated Eps domain containing 1							196.0	180.0	186.0					6																	139266690		2203	4300	6503	SO:0001583	missense	85021					coated pit|plasma membrane	calcium ion binding|SH3 domain binding	g.chr6:139266690T>C		CCDS5193.2, CCDS47488.1, CCDS69212.1, CCDS69213.1	6q24.1	2013-01-10			ENSG00000135597	ENSG00000135597		"""EF-hand domain containing"""	15578	protein-coding gene	gene with protein product		614825					Standard	XM_005267177		Approved		uc011edr.2	Q96D71	OTTHUMG00000015685	ENST00000450536.2:c.422A>G	6.37:g.139266690T>C	ENSP00000392065:p.Lys141Arg					REPS1_ENST00000258062.5_Missense_Mutation_p.K141R|REPS1_ENST00000415951.2_Missense_Mutation_p.K141R|REPS1_ENST00000409812.2_Missense_Mutation_p.K141R|REPS1_ENST00000367663.4_Missense_Mutation_p.K141R	p.K141R			Q96D71	REPS1_HUMAN		GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)	3	996	-			141					B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	Missense_Mutation	SNP	ENST00000450536.2	37	c.422A>G		.	.	.	.	.	.	.	.	.	.	T	19.61	3.859918	0.71834	.	.	ENSG00000135597	ENST00000450536;ENST00000367663;ENST00000529597;ENST00000409812;ENST00000258062;ENST00000415951;ENST00000367668	T;T;T;T;T;T	0.33216	1.43;1.43;1.43;1.42;1.42;1.43	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.29783	0.0744	L	0.40543	1.245	0.47441	D	0.999424	D;P;D;P	0.67145	0.996;0.59;0.995;0.455	P;B;P;B	0.60609	0.877;0.081;0.776;0.055	T	0.02909	-1.1095	10	0.25751	T	0.34	-11.9965	14.408	0.67096	0.0:0.0:0.0:1.0	.	141;141;141;141	Q96D71-3;Q96D71-2;Q96D71;E9PMG1	.;.;REPS1_HUMAN;.	R	141;141;127;141;141;141;89	ENSP00000392065:K141R;ENSP00000356635:K141R;ENSP00000434251:K127R;ENSP00000386699:K141R;ENSP00000258062:K141R;ENSP00000397941:K141R	ENSP00000258062:K141R	K	-	2	0	REPS1	139308383	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.421000	0.73353	2.145000	0.66743	0.454000	0.30748	AAG		0.478	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000042447.3			4	222	0	0	0	1	0	4	222				
CDC45	8318	broad.mit.edu	37	22	19471512	19471512	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A80M-01A-11D-A35I-08	TCGA-WB-A80M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbee6b0-22b5-4a22-a79d-88867205e64b	01134613-e4be-423c-8a3f-0c3307fcb112	g.chr22:19471512G>A	ENST00000407835.1	+	6	726	c.470G>A	c.(469-471)cGc>cAc	p.R157H	CDC45_ENST00000404724.3_Missense_Mutation_p.R111H|CDC45_ENST00000263201.1_Missense_Mutation_p.R157H|CDC45_ENST00000437685.2_Missense_Mutation_p.R157H|CDC45_ENST00000483431.1_3'UTR			O75419	CDC45_HUMAN	cell division cycle 45	157					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						TCTGAGAAGCGCACACGGTTA	0.532																																						ENST00000407835.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						c.(469-471)cGc>cAc		cell division cycle 45							115.0	100.0	105.0					22																	19471512		2203	4300	6503	SO:0001583	missense	8318				DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding	g.chr22:19471512G>A	AF053074	CCDS13762.1, CCDS54499.1, CCDS54500.1	22q11.21	2013-01-17	2013-01-17	2010-03-24	ENSG00000093009	ENSG00000093009			1739	protein-coding gene	gene with protein product	"""human CDC45"""	603465	"""CDC45 (cell division cycle 45, S.cerevisiae, homolog)-like"", ""CDC45 cell division cycle 45-like (S. cerevisiae)"", ""cell division cycle 45 homolog (S. cerevisiae)"""	CDC45L2, CDC45L		9660782, 9724329, 17608804	Standard	NM_001178010		Approved		uc011aha.2	O75419	OTTHUMG00000150386	ENST00000407835.1:c.470G>A	22.37:g.19471512G>A	ENSP00000385240:p.Arg157His					CDC45_ENST00000404724.3_Missense_Mutation_p.R111H|CDC45_ENST00000437685.2_Missense_Mutation_p.R157H|CDC45_ENST00000483431.1_3'UTR|CDC45_ENST00000263201.1_Missense_Mutation_p.R157H	p.R157H			O75419	CDC45_HUMAN			6	726	+			157					B4DDB4|B4DDU3|E9PDH7|O60856|Q20WK8|Q6UW54|Q9UP68	Missense_Mutation	SNP	ENST00000407835.1	37	c.470G>A	CCDS13762.1	.	.	.	.	.	.	.	.	.	.	G	35	5.513468	0.96402	.	.	ENSG00000093009	ENST00000407835;ENST00000438587;ENST00000437685;ENST00000263201;ENST00000404724	T;T;T;T;T	0.25912	2.0;2.0;1.95;2.0;1.77	5.68	5.68	0.88126	.	0.054321	0.64402	D	0.000001	T	0.58595	0.2133	M	0.84846	2.72	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.79108	0.99;0.992;0.99;0.99;0.99	T	0.63409	-0.6644	10	0.72032	D	0.01	-12.3749	19.7974	0.96491	0.0:0.0:1.0:0.0	.	157;152;111;157;157	E9PDH7;B4E092;B4DDB4;B4DDU3;O75419	.;.;.;.;CDC45_HUMAN	H	157;145;157;157;111	ENSP00000385240:R157H;ENSP00000397434:R145H;ENSP00000405726:R157H;ENSP00000263201:R157H;ENSP00000384978:R111H	ENSP00000263201:R157H	R	+	2	0	CDC45	17851512	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.420000	0.97426	2.673000	0.90976	0.650000	0.86243	CGC		0.532	CDC45-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317903.1	NM_003504		3	54	0	0	0	1	0	3	54				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-WB-A80M-01A-11D-A35I-08	TCGA-WB-A80M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbee6b0-22b5-4a22-a79d-88867205e64b	01134613-e4be-423c-8a3f-0c3307fcb112	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			100294341							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		3	25	0	0	0	1	0	3	25				
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs2684618	byFrequency	TCGA-WB-A80M-01A-11D-A35I-08	TCGA-WB-A80M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbee6b0-22b5-4a22-a79d-88867205e64b	01134613-e4be-423c-8a3f-0c3307fcb112	g.chr17:43587576A>G	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		tctgaaaagaaaagaaaaaaa	0.428													A|||	308	0.0615016	0.0204	0.0548	5008	,	,		16882	0.0685		0.1113	False		,,,				2504	0.0634					ENST00000253803.2																			0																																																			100294341							g.chr17:43587576A>G	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587576A>G						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.428	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		4	31	0	0	0	1	0	4	31				
PODXL	5420	broad.mit.edu	37	7	131241096	131241096	+	Frame_Shift_Del	DEL	G	G	-			TCGA-WB-A80M-01A-11D-A35I-08	TCGA-WB-A80M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbee6b0-22b5-4a22-a79d-88867205e64b	01134613-e4be-423c-8a3f-0c3307fcb112	g.chr7:131241096delG	ENST00000378555.3	-	1	270	c.23delC	c.(22-24)tcgfs	p.S8fs	PODXL_ENST00000537928.1_Frame_Shift_Del_p.S8fs|PODXL_ENST00000541194.1_Frame_Shift_Del_p.S8fs|PODXL_ENST00000322985.9_Frame_Shift_Del_p.S8fs|PODXL_ENST00000465001.1_Intron			O00592	PODXL_HUMAN	podocalyxin-like	8					cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					CAGCAGCGCCGAGAGCGCCAG	0.741																																						ENST00000541194.1																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						c.(22-24)tgfs		podocalyxin-like							6.0	9.0	8.0					7																	131241096		2044	4049	6093	SO:0001589	frameshift_variant	5420				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		g.chr7:131241096delG		CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.23delC	7.37:g.131241096delG	ENSP00000367817:p.Ser8fs					PODXL_ENST00000322985.9_Frame_Shift_Del_p.S8fs|PODXL_ENST00000537928.1_Frame_Shift_Del_p.S8fs|PODXL_ENST00000465001.1_Intron|PODXL_ENST00000378555.3_Frame_Shift_Del_p.S8fs	p.S8fs	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN			1	280	-	Melanoma(18;0.162)		8					A6NHX8|Q52LZ7|Q53ER6	Frame_Shift_Del	DEL	ENST00000378555.3	37	c.23delC	CCDS34755.1																																																																																				0.741	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	NM_001018111		2	4						2	4	---	---	---	---
ALDH2	217	broad.mit.edu	37	12	112204841	112204843	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-WB-A80M-01A-11D-A35I-08	TCGA-WB-A80M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbee6b0-22b5-4a22-a79d-88867205e64b	01134613-e4be-423c-8a3f-0c3307fcb112	g.chr12:112204841_112204843delGCC	ENST00000261733.2	+	1	116_118	c.55_57delGCC	c.(55-57)gccdel	p.A21del	ALDH2_ENST00000416293.3_In_Frame_Del_p.A21del|RP11-162P23.2_ENST00000546840.2_Intron	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	21					alcohol metabolic process (GO:0006066)|carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|electron carrier activity (GO:0009055)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Amyl Nitrite(DB01612)|Benzyl alcohol(DB06770)|Disulfiram(DB00822)|Guanidine(DB00536)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)	CCTCTTGTCAGCCGCCGCCACCC	0.734			T	HMGA2	leiomyoma																																	ENST00000261733.2				Dom	yes		12	12q24.2	217	T	aldehyde dehydrogenase 2 family (mitochondrial)			M	HMGA2		leiomyoma		0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22						c.(55-57)del		aldehyde dehydrogenase 2 family (mitochondrial)	Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)																																			SO:0001651	inframe_deletion	217				carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity	g.chr12:112204841_112204843delGCC	M26760	CCDS9155.1, CCDS55885.1	12q24.12	2007-12-14				ENSG00000111275	1.2.1.3	"""Aldehyde dehydrogenases"""	404	protein-coding gene	gene with protein product		100650				4015823, 2987944	Standard	NM_000690		Approved		uc001tst.3	P05091	OTTHUMG00000169603	ENST00000261733.2:c.55_57delGCC	12.37:g.112204847_112204849delGCC	ENSP00000261733:p.Ala21del					RP11-162P23.2_ENST00000546840.2_Intron|ALDH2_ENST00000416293.3_In_Frame_Del_p.A21del	p.A21del	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN			1	116_118	+			21					B4DW54|E7EUE5|Q03639|Q6IB13|Q6IV71	In_Frame_Del	DEL	ENST00000261733.2	37	c.55_57delGCC	CCDS9155.1																																																																																				0.734	ALDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405008.1	NM_000690		2	4						2	4	---	---	---	---
ADCY4	196883	broad.mit.edu	37	14	24801744	24801744	+	Frame_Shift_Del	DEL	G	G	-			TCGA-WB-A80M-01A-11D-A35I-08	TCGA-WB-A80M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbee6b0-22b5-4a22-a79d-88867205e64b	01134613-e4be-423c-8a3f-0c3307fcb112	g.chr14:24801744delG	ENST00000310677.4	-	4	616	c.503delC	c.(502-504)cctfs	p.P168fs	ADCY4_ENST00000396747.3_5'UTR|ADCY4_ENST00000418030.2_Frame_Shift_Del_p.P168fs|RP11-934B9.3_ENST00000555591.1_Frame_Shift_Del_p.A234fs|ADCY4_ENST00000554068.2_Frame_Shift_Del_p.P168fs|ADCY4_ENST00000558563.1_5'Flank	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	168					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CAGCAGTGCAGGCCGTGAGTC	0.662											OREG0022624	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000310677.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(502-504)ctfs		adenylate cyclase 4							16.0	18.0	17.0					14																	24801744		2192	4282	6474	SO:0001589	frameshift_variant	196883				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	g.chr14:24801744delG	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.503delC	14.37:g.24801744delG	ENSP00000312126:p.Pro168fs		OREG0022624	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	774	ADCY4_ENST00000554068.2_Frame_Shift_Del_p.P168fs|ADCY4_ENST00000396747.3_5'UTR|ADCY4_ENST00000418030.2_Frame_Shift_Del_p.P168fs|RP11-934B9.3_ENST00000555591.1_Frame_Shift_Del_p.A234fs	p.P168fs	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	4	616	-			168					B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Frame_Shift_Del	DEL	ENST00000310677.4	37	c.503delC	CCDS9627.1																																																																																				0.662	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			2	4						2	4	---	---	---	---
GTF2A1	2957	broad.mit.edu	37	14	81646632	81646643	+	In_Frame_Del	DEL	CATCCTTGAGAT	CATCCTTGAGAT	-			TCGA-WB-A80M-01A-11D-A35I-08	TCGA-WB-A80M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbee6b0-22b5-4a22-a79d-88867205e64b	01134613-e4be-423c-8a3f-0c3307fcb112	g.chr14:81646632_81646643delCATCCTTGAGAT	ENST00000553612.1	-	9	1458_1469	c.1055_1066delATCTCAAGGATG	c.(1054-1068)catctcaaggatggc>cgc	p.352_356HLKDG>R	GTF2A1_ENST00000434192.2_In_Frame_Del_p.313_317HLKDG>R	NM_001278940.1|NM_015859.3	NP_001265869.1|NP_056943.1	P52655	TF2AA_HUMAN	general transcription factor IIA, 1, 19/37kDa	352					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(234;0.0287)		TTCATAATGCCATCCTTGAGATGAAATTTCCA	0.274																																						ENST00000553612.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	12						c.(1054-1068)cgc>c		general transcription factor IIA, 1, 19/37kDa																																				SO:0001651	inframe_deletion	2957				regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|transcription factor TFIIA complex	DNA binding|protein binding|protein heterodimerization activity|TBP-class protein binding|transcription coactivator activity	g.chr14:81646632_81646643delCATCCTTGAGAT	X75383	CCDS9873.1, CCDS9874.1	14q31	2010-03-23	2002-08-29					"""General transcription factors"""	4646	protein-coding gene	gene with protein product		600520	"""glucose regulated protein, 58kD pseudogene"""			8224848	Standard	NM_015859		Approved	TFIIA	uc001xvf.2	P52655		ENST00000553612.1:c.1055_1066delATCTCAAGGATG	14.37:g.81646632_81646643delCATCCTTGAGAT	ENSP00000452454:p.His352_Gly356delinsArg					GTF2A1_ENST00000434192.2_In_Frame_Del_p.HLKDG313del	p.HLKDG352del	NM_015859.3	NP_056943.1	P52655	TF2AA_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0287)	9	1458_1469	-			352					Q3KNQ9	In_Frame_Del	DEL	ENST00000553612.1	37	c.1055_1066delATCTCAAGGATG	CCDS9873.1																																																																																				0.274	GTF2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413309.1	NM_015859		24	111						24	111	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102299886	102299887	+	RNA	INS	-	-	G	rs199996275	byFrequency	TCGA-WB-A80M-01A-11D-A35I-08	TCGA-WB-A80M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbee6b0-22b5-4a22-a79d-88867205e64b	01134613-e4be-423c-8a3f-0c3307fcb112	g.chr15:102299886_102299887insG	ENST00000561463.1	+	0	7932_7933									DNM1 pseudogene 47																		AACCTGTACTCGCGTCGGAACC	0.589													|||unknown(NO_COVERAGE)	758	0.151358	0.2511	0.1167	5008	,	,		74102	0.0595		0.163	False		,,,				2504	0.1237					ENST00000561463.1																			0																																																			100216544							g.chr15:102299886_102299887insG	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102299887_102299887dupG														0	7932_7933	+									RNA	INS	ENST00000561463.1	37																																																																																						0.589	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	6						3	6	---	---	---	---
MYO18A	399687	broad.mit.edu	37	17	27423926	27423927	+	Frame_Shift_Ins	INS	-	-	C			TCGA-WB-A80M-01A-11D-A35I-08	TCGA-WB-A80M-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cbee6b0-22b5-4a22-a79d-88867205e64b	01134613-e4be-423c-8a3f-0c3307fcb112	g.chr17:27423926_27423927insC	ENST00000527372.1	-	28	4417_4418	c.4237_4238insG	c.(4237-4239)gacfs	p.D1413fs	MYO18A_ENST00000533112.1_Frame_Shift_Ins_p.D1413fs|MYO18A_ENST00000354329.4_Frame_Shift_Ins_p.D1413fs|MYO18A_ENST00000531253.1_Frame_Shift_Ins_p.D1413fs	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1413					actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TGCCTGCAGGTCCCCGAGCTAG	0.589																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	ENST00000527372.1																			0				NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36						c.(4237-4239)cctfs		myosin XVIIIA																																				SO:0001589	frameshift_variant	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27423926_27423927insC	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.4238dupG	17.37:g.27423930_27423930dupC	ENSP00000437073:p.Asp1413fs					MYO18A_ENST00000354329.4_Frame_Shift_Ins_p.P1413fs|MYO18A_ENST00000533112.1_Frame_Shift_Ins_p.P1413fs|MYO18A_ENST00000531253.1_Frame_Shift_Ins_p.P1413fs	p.P1413fs	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		28	4417_4418	-			1413					Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Frame_Shift_Ins	INS	ENST00000527372.1	37	c.4237_4238insG	CCDS45642.1																																																																																				0.589	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		2	4						2	4	---	---	---	---
