#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
MCM8	84515	broad.mit.edu	37	20	5933129	5933129	+	Missense_Mutation	SNP	G	G	T			TCGA-SP-A6QC-01A-11D-A35I-08	TCGA-SP-A6QC-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3510ad36-e4f3-41f5-a5e3-1b56771b5180	9a540ad9-c71c-4557-9157-b18b25339958	g.chr20:5933129G>T	ENST00000378896.3	+	3	585	c.208G>T	c.(208-210)Gat>Tat	p.D70Y	TRMT6_ENST00000203001.2_5'Flank|TRMT6_ENST00000473131.1_5'Flank|MCM8_ENST00000378883.1_Missense_Mutation_p.D70Y|MCM8_ENST00000265187.4_Missense_Mutation_p.D70Y|MCM8_ENST00000378886.2_Missense_Mutation_p.D70Y|TRMT6_ENST00000453074.2_5'Flank	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	70					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)|G1/S transition of mitotic cell cycle (GO:0000082)|male gamete generation (GO:0048232)|mitotic cell cycle (GO:0000278)	MCM8-MCM9 complex (GO:0097362)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						GTCAACATTGGATCGATTCAT	0.338																																						ENST00000378896.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						c.(208-210)Gat>Tat		minichromosome maintenance complex component 8							106.0	121.0	116.0					20																	5933129		2203	4299	6502	SO:0001583	missense	84515				cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr20:5933129G>T	AJ439063	CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1	20p12.3	2007-04-04	2007-04-04	2003-07-09	ENSG00000125885	ENSG00000125885			16147	protein-coding gene	gene with protein product	"""REC homolog (Drosophila)"""	608187	"""chromosome 20 open reading frame 154"""	C20orf154		12527764	Standard	NM_032485		Approved	MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC	uc002wmi.3	Q9UJA3	OTTHUMG00000031822	ENST00000378896.3:c.208G>T	20.37:g.5933129G>T	ENSP00000368174:p.Asp70Tyr					MCM8_ENST00000378883.1_Missense_Mutation_p.D70Y|MCM8_ENST00000265187.4_Missense_Mutation_p.D70Y|MCM8_ENST00000378886.2_Missense_Mutation_p.D70Y	p.D70Y	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN			3	585	+			70					B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Missense_Mutation	SNP	ENST00000378896.3	37	c.208G>T	CCDS13094.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.042269	0.75732	.	.	ENSG00000125885	ENST00000378896;ENST00000378883;ENST00000399350;ENST00000378886;ENST00000265187	T;T;T;T	0.31510	1.49;1.49;1.49;1.49	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.53899	0.1825	M	0.68317	2.08	0.80722	D	1	D;D;P;P	0.61080	0.989;0.984;0.946;0.82	P;P;P;B	0.59643	0.861;0.73;0.771;0.39	T	0.51212	-0.8734	10	0.72032	D	0.01	-25.1445	20.6593	0.99626	0.0:0.0:1.0:0.0	.	70;70;70;70	Q9UJA3-2;E7EQU7;Q9UJA3-3;Q9UJA3	.;.;.;MCM8_HUMAN	Y	70	ENSP00000368174:D70Y;ENSP00000368161:D70Y;ENSP00000368164:D70Y;ENSP00000265187:D70Y	ENSP00000265187:D70Y	D	+	1	0	MCM8	5881129	1.000000	0.71417	1.000000	0.80357	0.532000	0.34746	7.577000	0.82486	2.885000	0.99019	0.655000	0.94253	GAT		0.338	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077900.1	NM_032485		4	166	1	0	0.00909568	1	0.00909568	4	166				
SCARB2	950	broad.mit.edu	37	4	77100808	77100808	+	Silent	SNP	G	G	A			TCGA-SP-A6QC-01A-11D-A35I-08	TCGA-SP-A6QC-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3510ad36-e4f3-41f5-a5e3-1b56771b5180	9a540ad9-c71c-4557-9157-b18b25339958	g.chr4:77100808G>A	ENST00000264896.2	-	4	823	c.474C>T	c.(472-474)gcC>gcT	p.A158A	SCARB2_ENST00000452464.2_Intron	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	158	Important for interaction with GBA.				cell adhesion (GO:0007155)|protein targeting to lysosome (GO:0006622)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			CTTTCAACATGGCCTCGATGA	0.488											OREG0016231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000264896.2																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22						c.(472-474)gcC>gcT		scavenger receptor class B, member 2							216.0	203.0	207.0					4																	77100808		2203	4300	6503	SO:0001819	synonymous_variant	950				cell adhesion|protein targeting to lysosome	integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction	enzyme binding|receptor activity	g.chr4:77100808G>A	D12676	CCDS3577.1, CCDS56335.1	4q21.1	2014-07-11	2002-09-06	2002-09-06	ENSG00000138760	ENSG00000138760			1665	protein-coding gene	gene with protein product		602257	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 2 (lysosomal integral membrane protein II)"""	CD36L2		1374238	Standard	NM_005506		Approved	HLGP85, LIMPII, SR-BII, LIMP-2	uc003hju.2	Q14108	OTTHUMG00000130099	ENST00000264896.2:c.474C>T	4.37:g.77100808G>A			OREG0016231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1173	SCARB2_ENST00000452464.2_Intron	p.A158A	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	Lung(101;0.196)		4	823	-			158					B4DKD8|E7EM68|Q53Y63	Silent	SNP	ENST00000264896.2	37	c.474C>T	CCDS3577.1																																																																																				0.488	SCARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252403.1	NM_005506		4	218	0	0	0	1	0	4	218				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-SP-A6QC-01A-11D-A35I-08	TCGA-SP-A6QC-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3510ad36-e4f3-41f5-a5e3-1b56771b5180	9a540ad9-c71c-4557-9157-b18b25339958	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687																																						ENST00000432432.2																			1	Substitution - coding silent(1)	p.K44K(1)	prostate(1)																																																729171							g.chr2:95522786T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522786T>C								NR_040113.1						0	241	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.687	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			3	35	0	0	0	1	0	3	35				
IPO8	10526	broad.mit.edu	37	12	30792609	30792609	+	Missense_Mutation	SNP	C	C	T			TCGA-SP-A6QC-01A-11D-A35I-08	TCGA-SP-A6QC-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3510ad36-e4f3-41f5-a5e3-1b56771b5180	9a540ad9-c71c-4557-9157-b18b25339958	g.chr12:30792609C>T	ENST00000256079.4	-	21	2667	c.2329G>A	c.(2329-2331)Gag>Aag	p.E777K	IPO8_ENST00000544829.1_Missense_Mutation_p.E572K	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	777					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GTACGAAGCTCACTAGTTTTG	0.438																																						ENST00000256079.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52						c.(2329-2331)Gag>Aag		importin 8							157.0	146.0	150.0					12																	30792609		2203	4300	6503	SO:0001583	missense	10526				intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	g.chr12:30792609C>T	U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"""Importins"""	9853	protein-coding gene	gene with protein product		605600	"""RAN binding protein 8"""	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.2329G>A	12.37:g.30792609C>T	ENSP00000256079:p.Glu777Lys					IPO8_ENST00000544829.1_Missense_Mutation_p.E572K	p.E777K	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN			21	2667	-	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		777					B7Z7M3	Missense_Mutation	SNP	ENST00000256079.4	37	c.2329G>A	CCDS8719.1	.	.	.	.	.	.	.	.	.	.	C	36	5.603220	0.96614	.	.	ENSG00000133704	ENST00000256079;ENST00000545286;ENST00000544829	T;T	0.67171	-0.25;-0.25	5.27	5.27	0.74061	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.82903	0.5138	M	0.84326	2.69	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.81914	0.995;0.989;0.983	T	0.81527	-0.0892	10	0.30078	T	0.28	-17.7455	18.8707	0.92313	0.0:1.0:0.0:0.0	.	572;253;777	B7Z7M3;Q59F59;O15397	.;.;IPO8_HUMAN	K	777;253;572	ENSP00000256079:E777K;ENSP00000444520:E572K	ENSP00000256079:E777K	E	-	1	0	IPO8	30683876	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.532000	0.81985	2.471000	0.83476	0.563000	0.77884	GAG		0.438	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2	NM_006390		19	90	0	0	0	1	0	19	90				
DNAH2	146754	broad.mit.edu	37	17	7683487	7683487	+	Missense_Mutation	SNP	G	G	A	rs147216751		TCGA-SP-A6QC-01A-11D-A35I-08	TCGA-SP-A6QC-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3510ad36-e4f3-41f5-a5e3-1b56771b5180	9a540ad9-c71c-4557-9157-b18b25339958	g.chr17:7683487G>A	ENST00000572933.1	+	37	7195	c.5735G>A	c.(5734-5736)cGc>cAc	p.R1912H	DNAH2_ENST00000389173.2_Missense_Mutation_p.R1912H			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1912	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TATGCTGGCCGCACAGAGCTT	0.463																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(5734-5736)cGc>cAc		dynein, axonemal, heavy chain 2		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	214.0	204.0	207.0		5735	5.3	1.0	17	dbSNP_134	207	1,8599	1.2+/-3.3	0,1,4299	no	missense	DNAH2	NM_020877.2	29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	1912/4428	7683487	2,13004	2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7683487G>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.5735G>A	17.37:g.7683487G>A	ENSP00000458355:p.Arg1912His					DNAH2_ENST00000389173.2_Missense_Mutation_p.R1912H	p.R1912H			Q9P225	DYH2_HUMAN			37	7195	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	1912			AAA 1 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.5735G>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	34	5.313707	0.95655	2.27E-4	1.16E-4	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.15017	2.46	5.35	5.35	0.76521	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.57577	0.2063	H	0.95884	3.735	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71461	-0.4586	10	0.87932	D	0	.	17.9933	0.89175	0.0:0.0:1.0:0.0	.	1912	Q9P225	DYH2_HUMAN	H	1912	ENSP00000373825:R1912H	ENSP00000353818:R1912H	R	+	2	0	DNAH2	7624212	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.590000	0.82653	2.785000	0.95823	0.655000	0.94253	CGC		0.463	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		4	205	0	0	0	1	0	4	205				
ZNF286B	729288	broad.mit.edu	37	17	18565373	18565373	+	Silent	SNP	A	A	G			TCGA-SP-A6QC-01A-11D-A35I-08	TCGA-SP-A6QC-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3510ad36-e4f3-41f5-a5e3-1b56771b5180	9a540ad9-c71c-4557-9157-b18b25339958	g.chr17:18565373A>G	ENST00000545289.1	-	5	1696	c.1446T>C	c.(1444-1446)ctT>ctC	p.L482L	ZNF286B_ENST00000285274.5_3'UTR	NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN	zinc finger protein 286B	482					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(1)	2						GATGTTGAATAAGAGCTGATG	0.388																																						ENST00000545289.1																			0				endometrium(1)|lung(1)	2						c.(1444-1446)ctT>ctC		zinc finger protein 286B							164.0	151.0	155.0					17																	18565373		692	1591	2283	SO:0001819	synonymous_variant	729288				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:18565373A>G		CCDS58523.1	17p11.2	2013-01-08			ENSG00000249459	ENSG00000249459		"""Zinc fingers, C2H2-type"""	33241	protein-coding gene	gene with protein product	"""zinc finger protein 590"""		"""zinc finger protein 286-like"", ""zinc finger 286C pseudogene"""	ZNF286L, ZNF286C			Standard	NM_001145045		Approved	ZNF590	uc010vyd.1	P0CG31	OTTHUMG00000178136	ENST00000545289.1:c.1446T>C	17.37:g.18565373A>G							p.L482L	NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN			5	1696	-			482						Silent	SNP	ENST00000545289.1	37	c.1446T>C	CCDS58523.1																																																																																				0.388	ZNF286B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_001723047		3	58	0	0	0	1	0	3	58				
GLE1	2733	broad.mit.edu	37	9	131285068	131285068	+	Missense_Mutation	SNP	A	A	T			TCGA-SP-A6QC-01A-11D-A35I-08	TCGA-SP-A6QC-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3510ad36-e4f3-41f5-a5e3-1b56771b5180	9a540ad9-c71c-4557-9157-b18b25339958	g.chr9:131285068A>T	ENST00000309971.4	+	4	660	c.554A>T	c.(553-555)cAg>cTg	p.Q185L	GLE1_ENST00000372770.4_Missense_Mutation_p.Q185L|GLE1_ENST00000539582.1_Intron	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator	185					mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear pore (GO:0005643)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						AAAGAATTCCAGGACTTGCGG	0.473																																						ENST00000309971.4																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						c.(553-555)cAg>cTg		GLE1 RNA export mediator							106.0	86.0	93.0					9																	131285068		2203	4300	6503	SO:0001583	missense	2733				poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear pore	protein binding	g.chr9:131285068A>T	AF058922	CCDS6904.1, CCDS35154.1	9q34.13	2014-09-17	2013-06-18	2007-10-04	ENSG00000119392	ENSG00000119392			4315	protein-coding gene	gene with protein product		603371	"""GLE1 (yeast homolog)-like, RNA export mediator"", ""GLE1 RNA export mediator-like (yeast)"", ""GLE1 RNA export mediator (yeast)"", ""lethal congenital contracture syndrome 1"", ""GLE1 RNA export mediator homolog (yeast)"""	GLE1L, LCCS1		9618489, 18204449	Standard	NM_001499		Approved	hGLE1	uc004bvj.3	Q53GS7	OTTHUMG00000020749	ENST00000309971.4:c.554A>T	9.37:g.131285068A>T	ENSP00000308622:p.Gln185Leu					GLE1_ENST00000372770.4_Missense_Mutation_p.Q185L|GLE1_ENST00000539582.1_Intron	p.Q185L	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN			4	660	+			185					O75458|Q53GT9|Q5VVU1|Q8NCP6|Q9UFL6	Missense_Mutation	SNP	ENST00000309971.4	37	c.554A>T	CCDS35154.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.992858	0.74703	.	.	ENSG00000119392	ENST00000309971;ENST00000372770	T;T	0.68331	-0.32;0.09	5.91	4.75	0.60458	.	0.267157	0.44902	D	0.000406	T	0.71500	0.3347	L	0.61218	1.895	0.80722	D	1	P;D	0.55800	0.954;0.973	P;P	0.53861	0.548;0.736	T	0.70633	-0.4818	10	0.42905	T	0.14	-10.0789	10.2487	0.43356	0.9245:0.0:0.0755:0.0	.	185;185	Q53GS7;Q53GS7-2	GLE1_HUMAN;.	L	185	ENSP00000308622:Q185L;ENSP00000361856:Q185L	ENSP00000308622:Q185L	Q	+	2	0	GLE1	130324889	1.000000	0.71417	1.000000	0.80357	0.648000	0.38561	4.599000	0.61076	1.031000	0.39867	0.529000	0.55759	CAG		0.473	GLE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054456.1	NM_001003722		3	46	0	0	0	1	0	3	46				
LCE1E	353135	broad.mit.edu	37	1	152759824	152759824	+	Missense_Mutation	SNP	A	A	C			TCGA-SP-A6QC-01A-11D-A35I-08	TCGA-SP-A6QC-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3510ad36-e4f3-41f5-a5e3-1b56771b5180	9a540ad9-c71c-4557-9157-b18b25339958	g.chr1:152759824A>C	ENST00000368770.3	+	2	102	c.49A>C	c.(49-51)Act>Cct	p.T17P	LCE1E_ENST00000368771.1_Missense_Mutation_p.T17P	NM_178353.1	NP_848130.1	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	17	Cys-rich.				keratinization (GO:0031424)					lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			tcccaagtgcactcccaagtg	0.602																																						ENST00000368770.3																			0				lung(5)|stomach(1)	6						c.(49-51)Act>Cct		late cornified envelope 1E							102.0	108.0	106.0					1																	152759824		2203	4300	6503	SO:0001583	missense	353135				keratinization			g.chr1:152759824A>C	BC038391	CCDS1024.1	1q21.3	2008-02-05			ENSG00000186226	ENSG00000186226		"""Late cornified envelopes"""	29466	protein-coding gene	gene with protein product		612607				11698679	Standard	NM_178353		Approved	LEP5	uc001fan.3	Q5T753	OTTHUMG00000012405	ENST00000368770.3:c.49A>C	1.37:g.152759824A>C	ENSP00000357759:p.Thr17Pro					LCE1E_ENST00000368771.1_Missense_Mutation_p.T17P	p.T17P	NM_178353.1	NP_848130.1	Q5T753	LCE1E_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	102	+	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		17			Cys-rich.		D3DV30	Missense_Mutation	SNP	ENST00000368770.3	37	c.49A>C	CCDS1024.1	.	.	.	.	.	.	.	.	.	.	A	9.288	1.049982	0.19827	.	.	ENSG00000186226	ENST00000368771;ENST00000368770	T;T	0.03689	3.84;3.84	3.38	-3.26	0.05064	.	.	.	.	.	T	0.00440	0.0014	N	0.00991	-1.07	0.20638	N	0.99988	B	0.02656	0.0	B	0.04013	0.001	T	0.48525	-0.9028	9	0.87932	D	0	.	6.8416	0.23965	0.2511:0.625:0.1239:0.0	.	17	Q5T753	LCE1E_HUMAN	P	17	ENSP00000357760:T17P;ENSP00000357759:T17P	ENSP00000357759:T17P	T	+	1	0	LCE1E	151026448	0.000000	0.05858	0.876000	0.34364	0.922000	0.55478	-1.901000	0.01597	-0.276000	0.09206	0.421000	0.28195	ACT		0.602	LCE1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034525.1	NM_178353		75	103	0	0	0	1	0	75	103				
TBC1D3	729873	broad.mit.edu	37	17	36357265	36357265	+	5'UTR	SNP	C	C	T	rs200062385	byFrequency	TCGA-SP-A6QC-01A-11D-A35I-08	TCGA-SP-A6QC-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3510ad36-e4f3-41f5-a5e3-1b56771b5180	9a540ad9-c71c-4557-9157-b18b25339958	g.chr17:36357265C>T	ENST00000537432.1	-	0	49				RP11-1407O15.2_ENST00000312412.4_Missense_Mutation_p.A330T|RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.A175T			Q8IZP1	TBC3A_HUMAN	TBC1 domain family, member 3							plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5	Breast(7;2.97e-12)	Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATAAGCAATGCAGTCTCCCTA	0.378																																						ENST00000312412.4																			0				kidney(1)|lung(3)	4						c.(988-990)Gca>Aca																																						SO:0001623	5_prime_UTR_variant	0							g.chr17:36357265C>T		CCDS45658.1	17q12	2014-09-16			ENSG00000274611	ENSG00000274419			19031	protein-coding gene	gene with protein product	"""prostate cancer gene 17"""	607741				12604796, 12359748, 16863688	Standard	NM_001123391		Approved	TBC1D3A, DKFZp434P2235, PRC17	uc002hoo.2	Q8IZP1	OTTHUMG00000188487	ENST00000537432.1:c.-440G>A	17.37:g.36357265C>T						TBC1D3_ENST00000537432.1_5'UTR|RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.A175T	p.A330T							9	987	-								A6NGX2|A8K007|Q6DCB4|Q9H0B9|Q9UDD4	Missense_Mutation	SNP	ENST00000537432.1	37	c.988G>A	CCDS45658.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.81|11.81	1.748450|1.748450	0.30955|0.30955	.|.	.|.	ENSG00000174093|ENSG00000174093	ENST00000544906;ENST00000520237;ENST00000312412;ENST00000518004|ENST00000523089	T;T;T;T|.	0.04706|.	3.57;3.57;3.57;3.57|.	2.83|2.83	2.83|2.83	0.33086|0.33086	.|.	.|.	.|.	.|.	.|.	T|T	0.67739|0.67739	0.2925|0.2925	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.67887|0.67887	-0.5554|-0.5554	6|4	0.22706|.	T|.	0.39|.	.|.	13.7008|13.7008	0.62608|0.62608	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	T|Y	175;330;330;326|285	ENSP00000444117:A175T;ENSP00000428261:A330T;ENSP00000308540:A330T;ENSP00000428330:A326T|.	ENSP00000308540:A330T|.	A|C	-|-	1|2	0|0	RP11-1407O15.2|RP11-1407O15.2	33611060|33611060	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.480000|0.480000	0.33159|0.33159	7.593000|7.593000	0.82686|0.82686	1.579000|1.579000	0.49836|0.49836	0.194000|0.194000	0.17425|0.17425	GCA|TGC		0.378	TBC1D3-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001123391		4	19	0	0	0	1	0	4	19				
SUSD4	55061	broad.mit.edu	37	1	223438146	223438146	+	Missense_Mutation	SNP	G	G	T			TCGA-SP-A6QC-01A-11D-A35I-08	TCGA-SP-A6QC-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3510ad36-e4f3-41f5-a5e3-1b56771b5180	9a540ad9-c71c-4557-9157-b18b25339958	g.chr1:223438146G>T	ENST00000343846.3	-	4	1183	c.550C>A	c.(550-552)Cta>Ata	p.L184I	SUSD4_ENST00000454695.2_Missense_Mutation_p.L24I|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000484758.2_Missense_Mutation_p.L113I|SUSD4_ENST00000344029.6_Missense_Mutation_p.L184I|SUSD4_ENST00000494793.2_Missense_Mutation_p.L184I|SUSD4_ENST00000366878.4_Missense_Mutation_p.L184I			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	184	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		GAAGAGGCTAGAGGTCTCAGG	0.468																																						ENST00000343846.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17						c.(550-552)Cta>Ata		sushi domain containing 4							53.0	58.0	56.0					1																	223438146		2203	4300	6503	SO:0001583	missense	55061					integral to membrane		g.chr1:223438146G>T	AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.550C>A	1.37:g.223438146G>T	ENSP00000344219:p.Leu184Ile					SUSD4_ENST00000344029.6_Missense_Mutation_p.L184I|SUSD4_ENST00000454695.2_Missense_Mutation_p.L24I|SUSD4_ENST00000366878.4_Missense_Mutation_p.L184I|SUSD4_ENST00000478605.1_5'UTR	p.L184I			Q5VX71	SUSD4_HUMAN		GBM - Glioblastoma multiforme(131;0.0611)	4	1183	-			184			Sushi 3.		D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Missense_Mutation	SNP	ENST00000343846.3	37	c.550C>A	CCDS41471.1	.	.	.	.	.	.	.	.	.	.	G	11.56	1.675930	0.29783	.	.	ENSG00000143502	ENST00000343846;ENST00000366878;ENST00000542750;ENST00000454695;ENST00000271787;ENST00000344029	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	5.45	3.39	0.38822	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.37857	N	0.001918	T	0.73094	0.3543	M	0.63428	1.95	0.20703	N	0.999865	D;D;D	0.89917	1.0;0.99;0.999	D;D;D	0.87578	0.985;0.979;0.998	T	0.62987	-0.6737	10	0.54805	T	0.06	-6.6266	9.477	0.38878	0.2399:0.0:0.7601:0.0	.	113;184;184	B7Z369;Q5VX71-3;Q5VX71	.;.;SUSD4_HUMAN	I	184;184;113;24;184;184	ENSP00000344219:L184I;ENSP00000355843:L184I;ENSP00000399288:L24I;ENSP00000339926:L184I	ENSP00000271787:L184I	L	-	1	2	SUSD4	221504769	0.110000	0.22057	0.014000	0.15608	0.198000	0.23893	0.716000	0.25836	0.721000	0.32231	0.591000	0.81541	CTA		0.468	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092592.2	NM_017982		33	44	1	0	6.00712e-18	1	6.42141e-18	33	44				
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833		TCGA-SP-A6QC-01A-11D-A35I-08	TCGA-SP-A6QC-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3510ad36-e4f3-41f5-a5e3-1b56771b5180	9a540ad9-c71c-4557-9157-b18b25339958	g.chr17:39261693A>T	ENST00000391415.1	+	1	110	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	18					aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.D18V(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCGGCCAAGACCTCTGTCAG	0.627																																						ENST00000391415.1																			1	Substitution - Missense(1)	p.D18V(1)	endometrium(1)	central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(52-54)gAc>gTc		keratin associated protein 4-9							18.0	22.0	21.0					17																	39261693		692	1590	2282	SO:0001583	missense	100132386					keratin filament		g.chr17:39261693A>T	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.53A>T	17.37:g.39261693A>T	ENSP00000375234:p.Asp18Val						p.D18V	NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN			1	110	+			18						Missense_Mutation	SNP	ENST00000391415.1	37	c.53A>T	CCDS54124.1	.	.	.	.	.	.	.	.	.	.	.	6.082	0.383461	0.11524	.	.	ENSG00000212722	ENST00000391415;ENST00000333994	T	0.32272	1.46	2.51	0.174	0.15040	.	.	.	.	.	T	0.25865	0.0630	M	0.64404	1.975	0.30580	P	0.762648	B	0.17852	0.024	B	0.14023	0.01	T	0.23154	-1.0196	8	0.45353	T	0.12	.	3.5681	0.07907	0.2702:0.2037:0.5261:0.0	.	18	Q9BYQ8	KRA49_HUMAN	V	18	ENSP00000375234:D18V	ENSP00000334461:D18V	D	+	2	0	KRTAP4-9	36515219	0.000000	0.05858	0.388000	0.26195	0.320000	0.28249	0.098000	0.15189	-0.245000	0.09625	0.155000	0.16302	GAC		0.627	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		5	33	0	0	0	1	0	5	33				
FAM86B3P	286042	broad.mit.edu	37	8	8095843	8095843	+	RNA	SNP	C	C	T	rs62495078		TCGA-SP-A6QC-01A-11D-A35I-08	TCGA-SP-A6QC-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3510ad36-e4f3-41f5-a5e3-1b56771b5180	9a540ad9-c71c-4557-9157-b18b25339958	g.chr8:8095843C>T	ENST00000310542.3	+	0	0				ALG1L13P_ENST00000523017.1_RNA					family with sequence similarity 86, member B3, pseudogene																		GAAGAGCAGACACTGCCATGG	0.602																																						ENST00000523017.1																			0																																																			286042							g.chr8:8095843C>T			8p23.1	2013-06-10			ENSG00000173295	ENSG00000173295			44371	pseudogene	pseudogene							Standard	NR_024361		Approved		uc011kwt.2		OTTHUMG00000163669		8.37:g.8095843C>T														0	608	-									RNA	SNP	ENST00000310542.3	37																																																																																						0.602	FAM86B3P-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000448496.1			5	33	0	0	0	1	0	5	33				
PDZD2	23037	broad.mit.edu	37	5	32058106	32058106	+	Silent	SNP	G	G	C	rs375565833		TCGA-SP-A6QC-01A-11D-A35I-08	TCGA-SP-A6QC-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3510ad36-e4f3-41f5-a5e3-1b56771b5180	9a540ad9-c71c-4557-9157-b18b25339958	g.chr5:32058106G>C	ENST00000438447.1	+	12	2485	c.2097G>C	c.(2095-2097)ggG>ggC	p.G699G	PDZD2_ENST00000282493.3_Silent_p.G699G			O15018	PDZD2_HUMAN	PDZ domain containing 2	699					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						ATACCAGTGGGGGAGCCTCAG	0.572																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(2095-2097)ggG>ggC		PDZ domain containing 2							44.0	41.0	42.0					5																	32058106		2203	4300	6503	SO:0001819	synonymous_variant	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32058106G>C	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.2097G>C	5.37:g.32058106G>C						PDZD2_ENST00000282493.3_Silent_p.G699G	p.G699G			O15018	PDZD2_HUMAN			12	2485	+			699					Q9BXD4	Silent	SNP	ENST00000438447.1	37	c.2097G>C	CCDS34137.1																																																																																				0.572	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			9	28	0	0	0	1	0	9	28				
VIT	5212	broad.mit.edu	37	2	37041349	37041349	+	Missense_Mutation	SNP	G	G	A	rs368417581		TCGA-SP-A6QC-01A-11D-A35I-08	TCGA-SP-A6QC-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3510ad36-e4f3-41f5-a5e3-1b56771b5180	9a540ad9-c71c-4557-9157-b18b25339958	g.chr2:37041349G>A	ENST00000389975.3	+	15	2184	c.1882G>A	c.(1882-1884)Gtt>Att	p.V628I	VIT_ENST00000497382.1_Missense_Mutation_p.V297I|VIT_ENST00000379242.3_Missense_Mutation_p.V643I|VIT_ENST00000379241.3_Missense_Mutation_p.V606I|VIT_ENST00000401530.1_Missense_Mutation_p.V607I|VIT_ENST00000404084.1_Missense_Mutation_p.V580I	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	628	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				TGCGATAGGCGTTGCCTGGGC	0.512																																						ENST00000379242.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(1927-1929)Gtt>Att		vitrin		G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	4,4402	8.1+/-20.4	0,4,2199	115.0	96.0	102.0		1882,1819,1816,1927	-1.6	0.0	2		102	0,8600		0,0,4300	no	missense,missense,missense,missense	VIT	NM_001177969.1,NM_001177970.1,NM_001177971.1,NM_053276.3	29,29,29,29	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	benign,benign,benign,benign	628/679,607/658,606/657,643/694	37041349	4,13002	2203	4300	6503	SO:0001583	missense	5212					proteinaceous extracellular matrix		g.chr2:37041349G>A	AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.1882G>A	2.37:g.37041349G>A	ENSP00000374625:p.Val628Ile					VIT_ENST00000389975.3_Missense_Mutation_p.V628I|VIT_ENST00000497382.1_Missense_Mutation_p.V297I|VIT_ENST00000404084.1_Missense_Mutation_p.V580I|VIT_ENST00000401530.1_Missense_Mutation_p.V607I|VIT_ENST00000379241.3_Missense_Mutation_p.V606I	p.V643I	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN			16	2229	+		all_hematologic(82;0.248)	628			VWFA 2.		A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Missense_Mutation	SNP	ENST00000389975.3	37	c.1927G>A	CCDS54347.1	.	.	.	.	.	.	.	.	.	.	G	6.727	0.502829	0.12822	9.08E-4	0.0	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000497382;ENST00000404084;ENST00000379241;ENST00000401530	T;T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25;-1.25	5.52	-1.62	0.08372	von Willebrand factor, type A (3);	0.416537	0.26677	N	0.023070	T	0.56819	0.2011	N	0.16201	0.385	0.09310	N	1	B;B;B;B	0.15141	0.008;0.002;0.008;0.012	B;B;B;B	0.12156	0.007;0.004;0.007;0.004	T	0.42649	-0.9439	10	0.25106	T	0.35	-3.4962	11.85	0.52405	0.5796:0.0:0.4204:0.0	.	607;606;628;643	E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4	.;.;VITRN_HUMAN;.	I	643;628;297;580;606;607	ENSP00000368544:V643I;ENSP00000374625:V628I;ENSP00000417874:V297I;ENSP00000384154:V580I;ENSP00000368543:V606I;ENSP00000385658:V607I	ENSP00000368543:V606I	V	+	1	0	VIT	36894853	0.704000	0.27836	0.000000	0.03702	0.504000	0.33889	1.206000	0.32321	-0.198000	0.10333	0.655000	0.94253	GTT		0.512	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding				11	41	0	0	0	1	0	11	41				
ZNF99	7652	broad.mit.edu	37	19	22940429	22940429	+	Missense_Mutation	SNP	C	C	G			TCGA-SP-A6QC-01A-11D-A35I-08	TCGA-SP-A6QC-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3510ad36-e4f3-41f5-a5e3-1b56771b5180	9a540ad9-c71c-4557-9157-b18b25339958	g.chr19:22940429C>G	ENST00000596209.1	-	4	2372	c.2282G>C	c.(2281-2283)tGc>tCc	p.C761S	CTC-451A6.4_ENST00000442497.2_lincRNA|ZNF99_ENST00000397104.3_Missense_Mutation_p.C670S	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	761					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C670S(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTCACATTTGCAGGGTTTCTC	0.358																																						ENST00000397104.3																			1	Substitution - Missense(1)	p.C670S(1)	lung(1)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(2008-2010)tGc>tCc		zinc finger protein 99																																				SO:0001583	missense	7652							g.chr19:22940429C>G	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.2282G>C	19.37:g.22940429C>G	ENSP00000472969:p.Cys761Ser					ZNF99_ENST00000596209.1_Missense_Mutation_p.C761S	p.C670S							5	2008	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.2009G>C	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	c	3.041	-0.197479	0.06259	.	.	ENSG00000213973	ENST00000397104	T	0.14640	2.49	0.718	-1.22	0.09494	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08980	0.0222	N	0.16656	0.425	0.09310	N	1	B	0.30824	0.296	B	0.39660	0.306	T	0.40701	-0.9549	9	0.72032	D	0.01	.	1.9738	0.03412	0.2626:0.2044:0.0:0.533	.	670	A8MXY4	ZNF99_HUMAN	S	670	ENSP00000380293:C670S	ENSP00000380293:C670S	C	-	2	0	ZNF99	22732269	0.000000	0.05858	0.001000	0.08648	0.140000	0.21249	-0.888000	0.04148	-0.230000	0.09840	-0.741000	0.03529	TGC		0.358	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		3	60	0	0	0	1	0	3	60				
PCYT2	5833	broad.mit.edu	37	17	79862805	79862805	+	Silent	SNP	C	C	T	rs200834115	byFrequency	TCGA-SP-A6QC-01A-11D-A35I-08	TCGA-SP-A6QC-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3510ad36-e4f3-41f5-a5e3-1b56771b5180	9a540ad9-c71c-4557-9157-b18b25339958	g.chr17:79862805C>T	ENST00000538936.2	-	13	1182	c.1074G>A	c.(1072-1074)gcG>gcA	p.A358A	PCYT2_ENST00000571105.1_Silent_p.A336A|PCYT2_ENST00000331285.3_Silent_p.A280A|PCYT2_ENST00000538721.2_Silent_p.A376A|PCYT2_ENST00000570391.1_Silent_p.A326A|PCYT2_ENST00000570388.1_Silent_p.A280A	NM_001256435.1|NM_002861.3	NP_001243364.1|NP_002852.1	Q99447	PCY2_HUMAN	phosphate cytidylyltransferase 2, ethanolamine	358					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)	ethanolamine-phosphate cytidylyltransferase activity (GO:0004306)			breast(2)|endometrium(1)|lung(4)|ovary(1)	8	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		Lamivudine(DB00709)	TCTGGTTTCGCGCCTCATACT	0.647													C|||	2	0.000399361	0.0015	0.0	5008	,	,		17500	0.0		0.0	False		,,,				2504	0.0					ENST00000538936.2																			0				breast(2)|endometrium(1)|lung(4)|ovary(1)	8						c.(1072-1074)gcG>gcA		phosphate cytidylyltransferase 2, ethanolamine		C	,	3,4397	6.2+/-15.9	0,3,2197	33.0	35.0	34.0		1128,1074	-9.3	0.0	17		34	0,8596		0,0,4298	no	coding-synonymous,coding-synonymous	PCYT2	NM_001184917.1,NM_002861.3	,	0,3,6495	TT,TC,CC		0.0,0.0682,0.0231	,	376/408,358/390	79862805	3,12993	2200	4298	6498	SO:0001819	synonymous_variant	5833				phospholipid biosynthetic process		ethanolamine-phosphate cytidylyltransferase activity	g.chr17:79862805C>T	D84307	CCDS11791.1, CCDS54178.1, CCDS58610.1, CCDS62364.1	17q25.3	2008-07-18				ENSG00000185813			8756	protein-coding gene	gene with protein product		602679				9083101	Standard	XM_005256386		Approved	ET	uc002kch.2	Q99447		ENST00000538936.2:c.1074G>A	17.37:g.79862805C>T						PCYT2_ENST00000538721.2_Silent_p.A376A|PCYT2_ENST00000331285.3_Silent_p.A280A|PCYT2_ENST00000571105.1_Silent_p.A336A|PCYT2_ENST00000570388.1_Silent_p.A280A|PCYT2_ENST00000570391.1_Silent_p.A326A	p.A358A	NM_001256435.1|NM_002861.3	NP_001243364.1|NP_002852.1	Q99447	PCY2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		13	1182	-	all_neural(118;0.0878)|Ovarian(332;0.12)		358					B7Z7A5|B7ZAS0|F5H8B1|Q6IBM3|Q96G08	Silent	SNP	ENST00000538936.2	37	c.1074G>A	CCDS11791.1																																																																																				0.647	PCYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439939.1	NM_002861		3	29	0	0	0	1	0	3	29				
FBXO28	23219	broad.mit.edu	37	1	224340859	224340859	+	Missense_Mutation	SNP	T	T	C			TCGA-SP-A6QC-01A-11D-A35I-08	TCGA-SP-A6QC-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3510ad36-e4f3-41f5-a5e3-1b56771b5180	9a540ad9-c71c-4557-9157-b18b25339958	g.chr1:224340859T>C	ENST00000366862.5	+	4	575	c.532T>C	c.(532-534)Tat>Cat	p.Y178H	FBXO28_ENST00000424254.2_Intron	NM_015176.3	NP_055991.1	Q9NVF7	FBX28_HUMAN	F-box protein 28	178										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1)	10	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		TGATGAGATTTATCGTGTGTT	0.343																																						ENST00000366862.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1)	10						c.(532-534)Tat>Cat		F-box protein 28							93.0	100.0	98.0					1																	224340859		2203	4300	6503	SO:0001583	missense	23219							g.chr1:224340859T>C	AK001628	CCDS1539.1, CCDS44320.1	1q42.12	2011-08-12			ENSG00000143756	ENSG00000143756		"""F-boxes /  ""other"""""	29046	protein-coding gene	gene with protein product	"""centromere protein 30"""	609100				9455484	Standard	NM_015176		Approved	FLJ10766, KIAA0483, Fbx28, CENP-30	uc001hoh.3	Q9NVF7	OTTHUMG00000037495	ENST00000366862.5:c.532T>C	1.37:g.224340859T>C	ENSP00000355827:p.Tyr178His					FBXO28_ENST00000424254.2_Intron	p.Y178H	NM_015176.3	NP_055991.1	Q9NVF7	FBX28_HUMAN		GBM - Glioblastoma multiforme(131;0.0363)	4	575	+	Breast(184;0.206)		178					E9PEM8|O75070	Missense_Mutation	SNP	ENST00000366862.5	37	c.532T>C	CCDS1539.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.301313	0.81136	.	.	ENSG00000143756	ENST00000366862	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.68035	0.2957	L	0.38175	1.15	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.68945	-0.5275	9	0.52906	T	0.07	-10.5427	15.8056	0.78506	0.0:0.0:0.0:1.0	.	178	Q9NVF7	FBX28_HUMAN	H	178	.	ENSP00000355827:Y178H	Y	+	1	0	FBXO28	222407482	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.422000	0.80217	2.323000	0.78572	0.528000	0.53228	TAT		0.343	FBXO28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091283.2	NM_015176		47	40	0	0	0	1	0	47	40				
DGCR8	54487	broad.mit.edu	37	22	20073282	20073282	+	De_novo_Start_OutOfFrame	SNP	T	T	G			TCGA-SP-A6QC-01A-11D-A35I-08	TCGA-SP-A6QC-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3510ad36-e4f3-41f5-a5e3-1b56771b5180	9a540ad9-c71c-4557-9157-b18b25339958	g.chr22:20073282T>G	ENST00000351989.3	+	0	225				DGCR8_ENST00000407755.1_5'Flank|MIR3618_ENST00000580330.1_RNA|MIR1306_ENST00000408439.1_RNA|DGCR8_ENST00000383024.2_De_novo_Start_OutOfFrame	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit						gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					GCTGAGTGCATTGTGATTTCC	0.463																																						ENST00000351989.3																			0				NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22								DGCR8 microprocessor complex subunit																																						54487				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding	g.chr22:20073282T>G	AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"""chromosome 22 open reading frame 12"", ""DiGeorge syndrome critical region gene 8"""	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.-205T>G	22.37:g.20073282T>G						DGCR8_ENST00000383024.2_De_novo_Start_OutOfFrame|MIR3618_ENST00000580330.1_RNA		NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN			0	225	+	Colorectal(54;0.0993)							B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Translation_Start_Site	SNP	ENST00000351989.3	37		CCDS13773.1																																																																																				0.463	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1			7	14	0	0	0	1	0	7	14				
GAD1	2571	broad.mit.edu	37	2	171710489	171710489	+	Missense_Mutation	SNP	G	G	A			TCGA-SP-A6QC-01A-11D-A35I-08	TCGA-SP-A6QC-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3510ad36-e4f3-41f5-a5e3-1b56771b5180	9a540ad9-c71c-4557-9157-b18b25339958	g.chr2:171710489G>A	ENST00000358196.3	+	14	1920	c.1370G>A	c.(1369-1371)cGc>cAc	p.R457H		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	457					gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						CAGTGTGGCCGCCACGTGGAT	0.488																																						ENST00000358196.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						c.(1369-1371)cGc>cAc		glutamate decarboxylase 1 (brain, 67kDa)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						139.0	131.0	134.0					2																	171710489		2203	4300	6503	SO:0001583	missense	2571				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr2:171710489G>A		CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"""glutamate decarboxylase 1 (brain, 67kD)"""	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.1370G>A	2.37:g.171710489G>A	ENSP00000350928:p.Arg457His						p.R457H	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN			14	1920	+			457					Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Missense_Mutation	SNP	ENST00000358196.3	37	c.1370G>A	CCDS2239.1	.	.	.	.	.	.	.	.	.	.	G	35	5.476217	0.96291	.	.	ENSG00000128683	ENST00000358196	T	0.55760	0.5	5.8	5.8	0.92144	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.049372	0.85682	D	0.000000	D	0.82733	0.5101	H	0.96398	3.815	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87543	0.2460	10	0.87932	D	0	-13.4342	20.0706	0.97721	0.0:0.0:1.0:0.0	.	457	Q99259	DCE1_HUMAN	H	457	ENSP00000350928:R457H	ENSP00000350928:R457H	R	+	2	0	GAD1	171418735	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.744000	0.94065	0.655000	0.94253	CGC		0.488	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102664.2			3	35	0	0	0	1	0	3	35				
MST1L	11223	broad.mit.edu	37	1	17085078	17085078	+	RNA	SNP	T	T	C			TCGA-SP-A6QC-01A-11D-A35I-08	TCGA-SP-A6QC-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3510ad36-e4f3-41f5-a5e3-1b56771b5180	9a540ad9-c71c-4557-9157-b18b25339958	g.chr1:17085078T>C	ENST00000455405.2	-	0	110							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										AAACTGCACCTGGTCTGTAGG	0.612																																						ENST00000455405.2																			0																																																			11223							g.chr1:17085078T>C	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17085078T>C														0	110	-								B7WPB1|Q13209	RNA	SNP	ENST00000455405.2	37			.	.	.	.	.	.	.	.	.	.	.	5.668	0.307817	0.10733	.	.	ENSG00000186715	ENST00000389184;ENST00000334998;ENST00000442552	.	.	.	.	.	.	Kringle (2);Kringle-like fold (1);	0.190026	0.25872	N	0.027759	T	0.33059	0.0850	.	.	.	.	.	.	P;B	0.43885	0.82;0.262	B;B	0.44224	0.444;0.101	T	0.36114	-0.9761	6	0.49607	T	0.09	.	4.1226	0.10112	0.0:0.0:0.3421:0.6579	.	466;466	Q2TV78-2;Q2TV78	.;MSTP9_HUMAN	R	435;466;466	.	ENSP00000439273:Q466R	Q	-	2	0	MST1P9	16957665	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.299000	0.19138	0.000000	0.14550	0.000000	0.15137	CAG		0.612	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733		7	12	0	0	0	1	0	7	12				
MIB2	142678	broad.mit.edu	37	1	1564560	1564560	+	Frame_Shift_Del	DEL	G	G	-			TCGA-SP-A6QC-01A-11D-A35I-08	TCGA-SP-A6QC-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3510ad36-e4f3-41f5-a5e3-1b56771b5180	9a540ad9-c71c-4557-9157-b18b25339958	g.chr1:1564560delG	ENST00000357210.4	+	17	2640	c.2424delG	c.(2422-2424)gcgfs	p.A809fs	MIB2_ENST00000355826.5_Frame_Shift_Del_p.A852fs|MIB2_ENST00000505820.2_Frame_Shift_Del_p.A866fs|MMP23B_ENST00000356026.5_5'Flank|MIB2_ENST00000378712.1_Frame_Shift_Del_p.A686fs|MIB2_ENST00000520777.1_Frame_Shift_Del_p.A862fs|MIB2_ENST00000504599.1_Frame_Shift_Del_p.A765fs|MIB2_ENST00000378708.1_Frame_Shift_Del_p.A715fs|MMP23B_ENST00000378675.3_5'Flank|MIB2_ENST00000360522.4_Frame_Shift_Del_p.A774fs|MIB2_ENST00000518681.1_Frame_Shift_Del_p.A801fs|MIB2_ENST00000378710.3_Frame_Shift_Del_p.A773fs	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	809					Notch signaling pathway (GO:0007219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	early endosome (GO:0005769)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CGGTGGGCGCGGCGGTCGCCT	0.776																																						ENST00000357210.4																			0				central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18						c.(2422-2424)gcfs		mindbomb E3 ubiquitin protein ligase 2							2.0	3.0	2.0					1																	1564560		1050	2733	3783	SO:0001589	frameshift_variant	142678				Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:1564560delG	AK097106	CCDS41224.1, CCDS41224.2, CCDS53261.1, CCDS53262.1, CCDS53263.1, CCDS53264.1	1p36.33	2013-01-10	2012-02-23	2005-04-01	ENSG00000197530	ENSG00000197530		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	30577	protein-coding gene	gene with protein product		611141	"""zinc finger, ZZ type with ankyrin repeat domain 1"", ""mindbomb homolog 2 (Drosophila)"""	ZZANK1		12761501	Standard	NM_080875		Approved	skeletrophin, ZZZ5, FLJ39787	uc001agg.3	Q96AX9	OTTHUMG00000074647	ENST00000357210.4:c.2424delG	1.37:g.1564560delG	ENSP00000349741:p.Ala809fs					MIB2_ENST00000360522.4_Frame_Shift_Del_p.A774fs|MIB2_ENST00000505820.2_Frame_Shift_Del_p.A866fs|MIB2_ENST00000355826.5_Frame_Shift_Del_p.A852fs|MIB2_ENST00000504599.1_Frame_Shift_Del_p.A765fs|MIB2_ENST00000518681.1_Frame_Shift_Del_p.A801fs|MIB2_ENST00000378710.3_Frame_Shift_Del_p.A773fs|MIB2_ENST00000378708.1_Frame_Shift_Del_p.A715fs|MIB2_ENST00000520777.1_Frame_Shift_Del_p.A862fs|MIB2_ENST00000378712.1_Frame_Shift_Del_p.A686fs	p.A809fs	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	17	2640	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	809					A2AGM5|A2AGM6|B3KV93|B3KVF4|B3KXY1|B4DZ57|E9PGU1|E9PHQ1|F8WA73|J3KNZ7|Q7Z437|Q8IY62|Q8N786|Q8N897|Q8N8R2|Q8N911|Q8NB36|Q8NCY1|Q8NG59|Q8NG60|Q8NG61|Q8NI59|Q8WYN1	Frame_Shift_Del	DEL	ENST00000357210.4	37	c.2424delG																																																																																					0.776	MIB2-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_080875		2	4						2	4	---	---	---	---
C1orf27	54953	broad.mit.edu	37	1	186363120	186363121	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-SP-A6QC-01A-11D-A35I-08	TCGA-SP-A6QC-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3510ad36-e4f3-41f5-a5e3-1b56771b5180	9a540ad9-c71c-4557-9157-b18b25339958	g.chr1:186363120_186363121delTT	ENST00000287859.6	+	9	878_879	c.753_754delTT	c.(751-756)tcttttfs	p.F252fs	C1orf27_ENST00000419367.3_Frame_Shift_Del_p.F220fs|C1orf27_ENST00000432021.3_Intron|C1orf27_ENST00000367470.3_Intron	NM_017847.5	NP_060317.3	Q5SWX8	ODR4_HUMAN	chromosome 1 open reading frame 27	252						integral component of membrane (GO:0016021)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	9						CTAGTCATTCTTTTGATGTCAG	0.277																																						ENST00000287859.6																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	9						c.(751-756)tcttfs		chromosome 1 open reading frame 27																																				SO:0001589	frameshift_variant	54953					integral to membrane	oxidoreductase activity|zinc ion binding	g.chr1:186363120_186363121delTT	BC003397	CCDS53448.1, CCDS53449.1, CCDS53450.1	1q25	2012-06-25			ENSG00000157181	ENSG00000157181			24299	protein-coding gene	gene with protein product	"""transactivated by recombinant transforming growth factor beta"""	609335				12868032	Standard	NM_017847		Approved	FLJ20505, odr-4, TTG1	uc021pgj.1	Q5SWX8	OTTHUMG00000035579	ENST00000287859.6:c.753_754delTT	1.37:g.186363122_186363123delTT	ENSP00000287859:p.Phe252fs					C1orf27_ENST00000419367.3_Frame_Shift_Del_p.SF219fs|C1orf27_ENST00000367470.3_Intron|C1orf27_ENST00000432021.3_Intron	p.SF251fs	NM_017847.5	NP_060317.3	Q5SWX8	ODR4_HUMAN			9	878_879	+			251		S -> C (in dbSNP:rs12084264).			B4DNY0|E9PFR7|Q19CC6|Q8WYB6|Q9BTS2|Q9H6A6|Q9NX06	Frame_Shift_Del	DEL	ENST00000287859.6	37	c.753_754delTT	CCDS53448.1																																																																																				0.277	C1orf27-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086352.2	NM_017847		2	4						2	4	---	---	---	---
SUSD4	55061	broad.mit.edu	37	1	223438145	223438145	+	Missense_Mutation	SNP	A	A	C			TCGA-SP-A6QC-01A-11D-A35I-08	TCGA-SP-A6QC-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3510ad36-e4f3-41f5-a5e3-1b56771b5180	9a540ad9-c71c-4557-9157-b18b25339958	g.chr1:223438145A>C	ENST00000343846.3	-	4	1184	c.551T>G	c.(550-552)cTa>cGa	p.L184R	SUSD4_ENST00000454695.2_Missense_Mutation_p.L24R|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000484758.2_Missense_Mutation_p.L113R|SUSD4_ENST00000344029.6_Missense_Mutation_p.L184R|SUSD4_ENST00000494793.2_Missense_Mutation_p.L184R|SUSD4_ENST00000366878.4_Missense_Mutation_p.L184R			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	184	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		AGAAGAGGCTAGAGGTCTCAG	0.463																																						ENST00000343846.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17						c.(550-552)cTa>cGa		sushi domain containing 4							53.0	58.0	56.0					1																	223438145		2203	4300	6503	SO:0001583	missense	55061					integral to membrane		g.chr1:223438145A>C	AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.551T>G	1.37:g.223438145A>C	ENSP00000344219:p.Leu184Arg					SUSD4_ENST00000344029.6_Missense_Mutation_p.L184R|SUSD4_ENST00000454695.2_Missense_Mutation_p.L24R|SUSD4_ENST00000366878.4_Missense_Mutation_p.L184R|SUSD4_ENST00000478605.1_5'UTR	p.L184R			Q5VX71	SUSD4_HUMAN		GBM - Glioblastoma multiforme(131;0.0611)	4	1184	-			184			Sushi 3.		D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Missense_Mutation	SNP	ENST00000343846.3	37	c.551T>G	CCDS41471.1	.	.	.	.	.	.	.	.	.	.	A	9.807	1.182216	0.21787	.	.	ENSG00000143502	ENST00000343846;ENST00000366878;ENST00000542750;ENST00000454695;ENST00000271787;ENST00000344029	T;T;T;T	0.62232	0.04;0.04;0.04;0.04	5.45	3.15	0.36227	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.37857	N	0.001918	T	0.67021	0.2849	L	0.45137	1.4	0.22918	N	0.99856	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	0.996;0.996;1.0	T	0.56553	-0.7960	10	0.19590	T	0.45	-6.6266	9.2511	0.37555	0.855:0.0:0.145:0.0	.	113;184;184	B7Z369;Q5VX71-3;Q5VX71	.;.;SUSD4_HUMAN	R	184;184;113;24;184;184	ENSP00000344219:L184R;ENSP00000355843:L184R;ENSP00000399288:L24R;ENSP00000339926:L184R	ENSP00000271787:L184R	L	-	2	0	SUSD4	221504768	0.224000	0.23674	0.008000	0.14137	0.169000	0.22640	4.237000	0.58681	0.511000	0.28236	0.482000	0.46254	CTA		0.463	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092592.2	NM_017982		31	44	0	0	0	1	0	31	44				
IMMT	10989	broad.mit.edu	37	2	86397875	86397875	+	Frame_Shift_Del	DEL	C	C	-			TCGA-SP-A6QC-01A-11D-A35I-08	TCGA-SP-A6QC-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3510ad36-e4f3-41f5-a5e3-1b56771b5180	9a540ad9-c71c-4557-9157-b18b25339958	g.chr2:86397875delC	ENST00000410111.3	-	6	1039	c.652delG	c.(652-654)gagfs	p.E218fs	IMMT_ENST00000442664.2_Frame_Shift_Del_p.E217fs|IMMT_ENST00000409051.2_Frame_Shift_Del_p.E171fs|IMMT_ENST00000449247.2_Frame_Shift_Del_p.E207fs|IMMT_ENST00000254636.5_Frame_Shift_Del_p.E119fs|IMMT_ENST00000490238.1_5'UTR	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	MIC60_HUMAN	inner membrane protein, mitochondrial	218					mitochondrial calcium ion homeostasis (GO:0051560)|response to cold (GO:0009409)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TACATACACTCAATTTTAACT	0.423																																						ENST00000410111.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(652-654)agfs		inner membrane protein, mitochondrial							98.0	92.0	94.0					2																	86397875		1875	4111	5986	SO:0001589	frameshift_variant	10989					integral to mitochondrial inner membrane	protein binding	g.chr2:86397875delC	D21094	CCDS46355.1, CCDS46356.1, CCDS46357.1	2p11.2	2011-10-04	2010-04-29		ENSG00000132305	ENSG00000132305			6047	protein-coding gene	gene with protein product	"""mitofilin"", ""mitochondrial inner membrane organizing system 2"""	600378	"""inner membrane protein, mitochondrial (mitofilin)"""			9168817, 8039717	Standard	NM_001100169		Approved	P87, P89, HMP, MINOS2	uc002sqz.4	Q16891	OTTHUMG00000153170	ENST00000410111.3:c.652delG	2.37:g.86397875delC	ENSP00000387262:p.Glu218fs					IMMT_ENST00000409051.2_Frame_Shift_Del_p.E171fs|IMMT_ENST00000254636.5_Frame_Shift_Del_p.E119fs|IMMT_ENST00000442664.2_Frame_Shift_Del_p.E217fs|IMMT_ENST00000449247.2_Frame_Shift_Del_p.E207fs|IMMT_ENST00000490238.1_5'UTR	p.E218fs	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN			6	1039	-			218					B1H0U5|B2R5N6|Q14539|Q15092|Q68D41|Q69HW5|Q6IBL0|Q7Z3X1|Q8TAJ5|Q9P0V2	Frame_Shift_Del	DEL	ENST00000410111.3	37	c.652delG	CCDS46355.1																																																																																				0.423	IMMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329909.2	NM_006839		2	4						2	4	---	---	---	---
TRBV6-5	28602	broad.mit.edu	37	7	142180822	142180824	+	RNA	DEL	AGA	AGA	-	rs369065333		TCGA-SP-A6QC-01A-11D-A35I-08	TCGA-SP-A6QC-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3510ad36-e4f3-41f5-a5e3-1b56771b5180	9a540ad9-c71c-4557-9157-b18b25339958	g.chr7:142180822_142180824delAGA	ENST00000390368.2	-	0	115									T cell receptor beta variable 6-5																		GCAGAGAAGGAGAACAAAGCTGA	0.562																																						ENST00000390368.2																			0																																																			28602							g.chr7:142180822_142180824delAGA	L36092		7q34	2012-02-07			ENSG00000211721	ENSG00000211721		"""T cell receptors / TRB locus"""	12230	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV65, TCRBV13S1, TCRBV6S5			OTTHUMG00000158519		7.37:g.142180822_142180824delAGA														0	115	-									RNA	DEL	ENST00000390368.2	37																																																																																						0.562	TRBV6-5-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351225.1	NG_001333		8	95						8	95	---	---	---	---
SCRIB	23513	broad.mit.edu	37	8	144874553	144874554	+	Frame_Shift_Ins	INS	-	-	C	rs6991873	byFrequency	TCGA-SP-A6QC-01A-11D-A35I-08	TCGA-SP-A6QC-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3510ad36-e4f3-41f5-a5e3-1b56771b5180	9a540ad9-c71c-4557-9157-b18b25339958	g.chr8:144874553_144874554insC	ENST00000320476.3	-	32	4356_4357	c.4350_4351insG	c.(4348-4353)ccacccfs	p.P1451fs	RP11-429J17.8_ENST00000527139.1_RNA|SCRIB_ENST00000377533.3_Frame_Shift_Ins_p.P1370fs|SCRIB_ENST00000546337.1_5'Flank|RP11-429J17.8_ENST00000534089.1_RNA|SCRIB_ENST00000356994.2_Frame_Shift_Ins_p.P1451fs|RP11-429J17.8_ENST00000532625.1_RNA	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1451					activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CCTCCCAGGGGTGGGGGGGACG	0.752																																					Pancreas(51;966 1133 10533 14576 29674)	ENST00000356994.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42						c.(4348-4353)ccccctfs		scribbled planar cell polarity protein																																				SO:0001589	frameshift_variant	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144874553_144874554insC	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.4350_4351insG	8.37:g.144874553_144874554insC	ENSP00000322938:p.Pro1451fs					SCRIB_ENST00000320476.3_Frame_Shift_Ins_p.PP1450fs|SCRIB_ENST00000377533.3_Frame_Shift_Ins_p.PP1369fs	p.PP1450fs	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		32	4356_4357	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1450					Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Frame_Shift_Ins	INS	ENST00000320476.3	37	c.4350_4351insG	CCDS6411.1																																																																																				0.752	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		2	4						2	4	---	---	---	---
UBQLN3	50613	broad.mit.edu	37	11	5529918	5529920	+	In_Frame_Del	DEL	TGG	TGG	-	rs2234451	byFrequency	TCGA-SP-A6QC-01A-11D-A35I-08	TCGA-SP-A6QC-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3510ad36-e4f3-41f5-a5e3-1b56771b5180	9a540ad9-c71c-4557-9157-b18b25339958	g.chr11:5529918_5529920delTGG	ENST00000311659.4	-	2	1016_1018	c.869_871delCCA	c.(868-873)accagc>agc	p.T290del	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	290			T -> S (in dbSNP:rs2234451).							NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGGTTGGCTGGTGGTGGTGGT	0.537																																					Ovarian(72;684 1260 12332 41642 52180)	ENST00000311659.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39						c.(868-873)agc>a		ubiquilin 3																																				SO:0001651	inframe_deletion	50613							g.chr11:5529918_5529920delTGG	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.869_871delCCA	11.37:g.5529927_5529929delTGG	ENSP00000347997:p.Thr290del					HBG2_ENST00000380259.2_Intron	p.TS290del	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1016_1018	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	290		T -> S (in dbSNP:rs2234451).			Q9NRE0	In_Frame_Del	DEL	ENST00000311659.4	37	c.869_871delCCA	CCDS7758.1																																																																																				0.537	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		7	106						7	106	---	---	---	---
LRRC75A	388341	broad.mit.edu	37	17	16344167	16344167	+	IGR	DEL	A	A	-	rs112317984|rs555182592	byFrequency	TCGA-SP-A6QC-01A-11D-A35I-08	TCGA-SP-A6QC-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3510ad36-e4f3-41f5-a5e3-1b56771b5180	9a540ad9-c71c-4557-9157-b18b25339958	g.chr17:16344167delA	ENST00000409083.3	-	0	2656				C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000384229.1_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000480811.1_RNA|RP11-138I1.3_ENST00000585048.1_lincRNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000475953.1_RNA|C17orf76-AS1_ENST00000365172.1_RNA|C17orf76-AS1_ENST00000484836.1_RNA|C17orf76-AS1_ENST00000391079.1_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000578380.2_RNA|C17orf76-AS1_ENST00000579473.1_RNA	NM_207387.3	NP_997270.2														lung(1)	1						actccatctcaaaaaaaaaaa	0.413																																						ENST00000475953.1																			0																																																	SO:0001628	intergenic_variant	125144							g.chr17:16344167delA																													17.37:g.16344167delA						C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000484836.1_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA|RP11-138I1.3_ENST00000585048.1_lincRNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000481027.1_RNA		NR_027667.1						0	483	+									RNA	DEL	ENST00000409083.3	37		CCDS11178.2																																																																																				0.413	FAM211A-001	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130461.2			3	3						3	3	---	---	---	---
LRRC45	201255	broad.mit.edu	37	17	79981565	79981565	+	Frame_Shift_Del	DEL	G	G	-			TCGA-SP-A6QC-01A-11D-A35I-08	TCGA-SP-A6QC-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3510ad36-e4f3-41f5-a5e3-1b56771b5180	9a540ad9-c71c-4557-9157-b18b25339958	g.chr17:79981565delG	ENST00000306688.3	+	1	388	c.46delG	c.(46-48)gggfs	p.G16fs	STRA13_ENST00000580435.1_5'Flank|STRA13_ENST00000306704.6_5'Flank|STRA13_ENST00000584347.1_5'Flank|STRA13_ENST00000583767.1_5'Flank|LRRC45_ENST00000583383.1_3'UTR|STRA13_ENST00000392359.3_5'Flank	NM_144999.2	NP_659436.1	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45	16						centrosome (GO:0005813)				lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CAGGGAGAGTGGGGCCGAGCC	0.711																																						ENST00000306688.3																			0				lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5						c.(46-48)ggfs		leucine rich repeat containing 45							5.0	7.0	6.0					17																	79981565		2102	4162	6264	SO:0001589	frameshift_variant	201255					centrosome		g.chr17:79981565delG	BC014109	CCDS11797.1	17q25.3	2005-08-09				ENSG00000169683			28302	protein-coding gene	gene with protein product						12477932	Standard	NM_144999		Approved	MGC20806	uc002kde.3	Q96CN5		ENST00000306688.3:c.46delG	17.37:g.79981565delG	ENSP00000306760:p.Gly16fs					LRRC45_ENST00000583383.1_3'UTR	p.G16fs	NM_144999.2	NP_659436.1	Q96CN5	LRC45_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)		1	388	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		16						Frame_Shift_Del	DEL	ENST00000306688.3	37	c.46delG	CCDS11797.1																																																																																				0.711	LRRC45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442058.1	NM_144999		2	4						2	4	---	---	---	---
TLE2	7089	broad.mit.edu	37	19	3028803	3028804	+	Splice_Site	INS	-	-	G	rs202223987	byFrequency	TCGA-SP-A6QC-01A-11D-A35I-08	TCGA-SP-A6QC-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3510ad36-e4f3-41f5-a5e3-1b56771b5180	9a540ad9-c71c-4557-9157-b18b25339958	g.chr19:3028803_3028804insG	ENST00000262953.6	-	2	287		c.e2-2		TLE2_ENST00000455444.2_5'UTR|TLE2_ENST00000426948.2_Splice_Site|TLE2_ENST00000586422.1_5'Flank|TLE2_ENST00000590536.1_Splice_Site|TLE2_ENST00000591529.1_Splice_Site|TLE2_ENST00000443826.3_Splice_Site	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2						negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGCGGGGTCTGGGGGGGGTGT	0.624																																						ENST00000262953.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13						c.e2-2		transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)																																				SO:0001630	splice_region_variant	7089				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity	g.chr19:3028803_3028804insG	M99436	CCDS45911.1, CCDS45912.1, CCDS45913.1, CCDS74255.1	19p13.3	2014-03-07	2014-03-07					"""WD repeat domain containing"""	11838	protein-coding gene	gene with protein product	"""enhancer of split groucho 2"""	601041	"""transducin-like enhancer of split 2, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)"""			8808280	Standard	NM_003260		Approved	ESG2, GRG2, ESG, FLJ41188	uc002lww.3	Q04725		ENST00000262953.6:c.25-2->C	19.37:g.3028811_3028811dupG						TLE2_ENST00000443826.3_Splice_Site|TLE2_ENST00000590536.1_Splice_Site|TLE2_ENST00000455444.2_5'UTR|TLE2_ENST00000426948.2_Splice_Site|TLE2_ENST00000591529.1_Splice_Site		NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	287	-								B4DE03|E9PEV7|F8WCH2|Q8WVY0|Q9Y6S0	Splice_Site	INS	ENST00000262953.6	37		CCDS45911.1																																																																																				0.624	TLE2-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452194.2	NM_003260	Intron	7	125						7	125	---	---	---	---
HAMP	57817	broad.mit.edu	37	19	35773520	35773522	+	In_Frame_Del	DEL	CTC	CTC	-	rs373178250		TCGA-SP-A6QC-01A-11D-A35I-08	TCGA-SP-A6QC-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3510ad36-e4f3-41f5-a5e3-1b56771b5180	9a540ad9-c71c-4557-9157-b18b25339958	g.chr19:35773520_35773522delCTC	ENST00000598398.1	+	2	336_338	c.40_42delCTC	c.(40-42)ctcdel	p.L18del	HAMP_ENST00000222304.3_In_Frame_Del_p.L18del	NM_021175.2	NP_066998.1	P81172	HEPC_HUMAN	hepcidin antimicrobial peptide	18					cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|immune response (GO:0006955)|killing of cells of other organism (GO:0031640)	apical cortex (GO:0045179)|extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TTGCCTCCTGCTCCTCCTCCTCC	0.64																																						ENST00000598398.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4						c.(40-42)del		hepcidin antimicrobial peptide																																				SO:0001651	inframe_deletion	57817				defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism	extracellular region	hormone activity	g.chr19:35773520_35773522delCTC	AF309489	CCDS12454.1	19q13.1	2014-09-17				ENSG00000105697			15598	protein-coding gene	gene with protein product		606464				11034317, 11113132	Standard	NM_021175		Approved	LEAP-1, HEPC, HFE2B, LEAP1	uc002nyw.3	P81172		ENST00000598398.1:c.40_42delCTC	19.37:g.35773529_35773531delCTC	ENSP00000471894:p.Leu18del					HAMP_ENST00000222304.3_In_Frame_Del_p.L18del	p.L18del	NM_021175.2	NP_066998.1	P81172	HEPC_HUMAN	Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		2	336_338	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		18					Q1HE14|Q9BY68	In_Frame_Del	DEL	ENST00000598398.1	37	c.40_42delCTC	CCDS12454.1																																																																																				0.640	HAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466067.1	NM_021175		8	127						8	127	---	---	---	---
