#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
SLFN13	146857	broad.mit.edu	37	17	33769199	33769199	+	Silent	SNP	G	G	A			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr17:33769199G>A	ENST00000285013.6	-	5	1580	c.1305C>T	c.(1303-1305)tcC>tcT	p.S435S	SLFN13_ENST00000526861.1_Silent_p.S435S|SLFN13_ENST00000542635.1_Silent_p.S435S|SLFN13_ENST00000534689.1_Silent_p.S117S|SLFN13_ENST00000533791.1_Silent_p.S435S|SLFN13_ENST00000360502.2_Silent_p.S117S	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	435						intracellular (GO:0005622)	ATP binding (GO:0005524)	p.S435S(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CAATTCCCTGGGAGAAAGGTC	0.488																																						ENST00000285013.6																			1	Substitution - coding silent(1)	p.S435S(1)	prostate(1)	NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31						c.(1303-1305)tcC>tcT		schlafen family member 13							91.0	83.0	86.0					17																	33769199		2203	4300	6503	SO:0001819	synonymous_variant	146857					intracellular	ATP binding	g.chr17:33769199G>A	AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.1305C>T	17.37:g.33769199G>A						SLFN13_ENST00000360502.2_Silent_p.S117S|SLFN13_ENST00000542635.1_Silent_p.S435S|SLFN13_ENST00000534689.1_Silent_p.S117S|SLFN13_ENST00000533791.1_Silent_p.S435S|SLFN13_ENST00000526861.1_Silent_p.S435S	p.S435S	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	5	1580	-			435					E1P645|Q658M1|Q6ZS51|Q96A81	Silent	SNP	ENST00000285013.6	37	c.1305C>T	CCDS32620.1																																																																																				0.488	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381883.1	NM_144682		4	130	0	0	0	1	0	4	130				
RPS6KB1	6198	broad.mit.edu	37	17	58009016	58009016	+	Silent	SNP	G	G	A			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr17:58009016G>A	ENST00000225577.4	+	7	642	c.621G>A	c.(619-621)ggG>ggA	p.G207G	RPS6KB1_ENST00000406116.3_Silent_p.G207G|RPS6KB1_ENST00000443572.2_Silent_p.G184G|RPS6KB1_ENST00000393021.3_Silent_p.G154G	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 1	207	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				aging (GO:0007568)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell development (GO:0007281)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue growth (GO:0048633)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of glucose import (GO:0046324)|response to drug (GO:0042493)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to ethanol (GO:0045471)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to leucine (GO:0043201)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to testosterone (GO:0033574)|response to toxic substance (GO:0009636)|response to tumor necrosis factor (GO:0034612)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			TGGCTTTGGGGCATTTACATC	0.368																																						ENST00000225577.4																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(619-621)ggG>ggA		ribosomal protein S6 kinase, 70kDa, polypeptide 1							63.0	64.0	63.0					17																	58009016		2203	4300	6503	SO:0001819	synonymous_variant	6198				apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity	g.chr17:58009016G>A	M60724	CCDS11621.1, CCDS62271.1, CCDS62272.1, CCDS62273.1	17q23.1	2011-04-05	2002-08-29		ENSG00000108443	ENSG00000108443			10436	protein-coding gene	gene with protein product		608938	"""ribosomal protein S6 kinase, 70kD, polypeptide 1"""	STK14A		1922062	Standard	NM_003161		Approved	S6K1, p70(S6K)-alpha, PS6K	uc002ixy.4	P23443	OTTHUMG00000150642	ENST00000225577.4:c.621G>A	17.37:g.58009016G>A						RPS6KB1_ENST00000406116.3_Silent_p.G207G|RPS6KB1_ENST00000443572.2_Silent_p.G184G|RPS6KB1_ENST00000393021.3_Silent_p.G154G	p.G207G	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)		7	642	+	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		207			Protein kinase.		B2R779|B4DLT4|B4DTG1|E7ESB8|F6UYM1|Q7Z721	Silent	SNP	ENST00000225577.4	37	c.621G>A	CCDS11621.1																																																																																				0.368	RPS6KB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319324.1	NM_003161		4	161	0	0	0	1	0	4	161				
ZBTB17	7709	broad.mit.edu	37	1	16274882	16274882	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr1:16274882C>A	ENST00000375743.4	-	3	341	c.109G>T	c.(109-111)Gct>Tct	p.A37S	ZBTB17_ENST00000448462.2_Missense_Mutation_p.A37S|ZBTB17_ENST00000375733.2_Missense_Mutation_p.A37S|ZBTB17_ENST00000479282.1_5'UTR|ZBTB17_ENST00000537142.1_Intron	NM_003443.2	NP_003434.2	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	37	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|ectoderm development (GO:0007398)|endoplasmic reticulum unfolded protein response (GO:0030968)|gastrulation with mouth forming second (GO:0001702)|negative regulation of cell cycle (GO:0045786)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A37S(1)		breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		GCTTTATGAGCCTTAAAGTGA	0.572																																						ENST00000375733.2																			1	Substitution - Missense(1)	p.A37S(1)	prostate(1)	breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15						c.(109-111)Gct>Tct		zinc finger and BTB domain containing 17							91.0	82.0	85.0					1																	16274882		2203	4300	6503	SO:0001583	missense	7709				negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:16274882C>A	U20647	CCDS165.1, CCDS55576.1, CCDS72712.1	1p36.13	2013-01-08	2004-07-16	2004-07-16	ENSG00000116809	ENSG00000116809		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12936	protein-coding gene	gene with protein product		604084	"""zinc finger protein 151 (pHZ-67)"", ""zinc finger protein 60"""	ZNF151, ZNF60			Standard	NM_003443		Approved	MIZ1, pHZ-67	uc001axl.4	Q13105	OTTHUMG00000009377	ENST00000375743.4:c.109G>T	1.37:g.16274882C>A	ENSP00000364895:p.Ala37Ser					ZBTB17_ENST00000537142.1_Intron|ZBTB17_ENST00000375743.4_Missense_Mutation_p.A37S|ZBTB17_ENST00000479282.1_5'UTR|ZBTB17_ENST00000448462.2_Missense_Mutation_p.A37S	p.A37S			Q13105	ZBT17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)	3	347	-		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	37			BTB.		A0AV07|B4DXB4|B7ZLQ9|F5H411|Q15932|Q5JYB2|Q9NUC9	Missense_Mutation	SNP	ENST00000375743.4	37	c.109G>T	CCDS165.1	.	.	.	.	.	.	.	.	.	.	C	36	5.632869	0.96682	.	.	ENSG00000116809	ENST00000375743;ENST00000375733;ENST00000444654;ENST00000448462	T;T;T	0.77750	1.33;1.33;-1.12	5.3	5.3	0.74995	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.91365	0.7276	M	0.93594	3.435	0.45172	D	0.998185	D;D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;1.0;0.995	D;D;D;D;D;D	0.97110	0.999;0.996;0.997;0.996;1.0;0.996	D	0.93281	0.6660	10	0.87932	D	0	.	18.3218	0.90241	0.0:1.0:0.0:0.0	.	37;37;37;37;37;37	B4DGV6;E7EPQ4;Q13105-2;B4DSM7;B2RCP2;Q13105	.;.;.;.;.;ZBT17_HUMAN	S	37	ENSP00000364895:A37S;ENSP00000364885:A37S;ENSP00000391002:A37S	ENSP00000364885:A37S	A	-	1	0	ZBTB17	16147469	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.666000	0.83877	2.649000	0.89929	0.561000	0.74099	GCT		0.572	ZBTB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025998.1	NM_003443		7	106	1	0	0.00198382	1	0.00239225	7	106				
VCAN	1462	broad.mit.edu	37	5	82849208	82849208	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr5:82849208G>A	ENST00000265077.3	+	11	10084	c.9519G>A	c.(9517-9519)tgG>tgA	p.W3173*	VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Nonsense_Mutation_p.W1371*|VCAN_ENST00000502527.2_Nonsense_Mutation_p.W432*|VCAN_ENST00000342785.4_Nonsense_Mutation_p.W1419*|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000343200.5_Nonsense_Mutation_p.W2186*|VCAN-AS1_ENST00000512090.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3173					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.W3173*(2)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	ACTATGGCTGGCACAAATTCC	0.502																																						ENST00000265077.3																			2	Substitution - Nonsense(2)	p.W3173*(2)	prostate(2)	NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(9517-9519)tgG>tgA		versican							123.0	109.0	114.0					5																	82849208		2203	4300	6503	SO:0001587	stop_gained	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82849208G>A	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.9519G>A	5.37:g.82849208G>A	ENSP00000265077:p.Trp3173*					VCAN_ENST00000343200.5_Nonsense_Mutation_p.W2186*|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000512090.1_RNA|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000342785.4_Nonsense_Mutation_p.W1419*|VCAN_ENST00000502527.2_Nonsense_Mutation_p.W432*|VCAN_ENST00000512590.2_Nonsense_Mutation_p.W1371*	p.W3173*	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	11	10084	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	3173					P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Nonsense_Mutation	SNP	ENST00000265077.3	37	c.9519G>A	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	47	13.789259	0.99763	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000512590;ENST00000502527	.	.	.	6.06	6.06	0.98353	.	0.000000	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	.	.	.	X	3173;2186;1419;1371;432	.	ENSP00000265077:W3173X	W	+	3	0	VCAN	82884964	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.869000	0.99810	2.882000	0.98803	0.655000	0.94253	TGG		0.502	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		4	116	0	0	0	1	0	4	116				
GOLGA6L17P	642402	broad.mit.edu	37	15	85053142	85053142	+	RNA	SNP	C	C	T	rs184555335	byFrequency	TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr15:85053142C>T	ENST00000414190.2	-	0	310					NR_003246.2																						TTTTTCAATTCCTTGACCCGC	0.413													.|||	2313	0.461861	0.4849	0.4121	5008	,	,		9054	0.4554		0.4632	False		,,,				2504	0.4714					ENST00000414190.2																			0																																																			0							g.chr15:85053142C>T																													15.37:g.85053142C>T								NR_003246.2						0	310	-									RNA	SNP	ENST00000414190.2	37																																																																																						0.413	GOLGA6L5-003	KNOWN	mRNA_end_NF|basic	processed_transcript	pseudogene	OTTHUMT00000418579.1			5	19	0	0	0	1	0	5	19				
ZNF212	7988	broad.mit.edu	37	7	148947631	148947631	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr7:148947631G>A	ENST00000335870.2	+	2	534	c.406G>A	c.(406-408)Gcc>Acc	p.A136T		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	136					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)	p.A136T(1)		endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			CAAGGGGGAGGCCCCCAAGGT	0.557																																						ENST00000335870.2																			1	Substitution - Missense(1)	p.A136T(1)	prostate(1)	endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9						c.(406-408)Gcc>Acc		zinc finger protein 212							57.0	75.0	69.0					7																	148947631		2196	4298	6494	SO:0001583	missense	7988				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding	g.chr7:148947631G>A	U38864	CCDS5896.1	7q36.1	2013-01-08			ENSG00000170260	ENSG00000170260		"""Zinc fingers, C2H2-type"", ""-"""	13004	protein-coding gene	gene with protein product		602386				9169157	Standard	NM_012256		Approved	C2H2-150	uc003wfp.3	Q9UDV6	OTTHUMG00000158968	ENST00000335870.2:c.406G>A	7.37:g.148947631G>A	ENSP00000338572:p.Ala136Thr						p.A136T	NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00171)		2	534	+	Melanoma(164;0.15)		136					B2RCF4|Q13396|Q8N664	Missense_Mutation	SNP	ENST00000335870.2	37	c.406G>A	CCDS5896.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.94|14.94	2.685624|2.685624	0.47991|0.47991	.|.	.|.	ENSG00000170260|ENSG00000170260	ENST00000335870|ENST00000481584	T|.	0.07444|.	3.19|.	5.7|5.7	3.63|3.63	0.41609|0.41609	Krueppel-associated box (1);|.	0.864979|.	0.09897|.	N|.	0.741495|.	T|T	0.31482|0.31482	0.0798|0.0798	L|L	0.29908|0.29908	0.895|0.895	0.21802|0.21802	N|N	0.999538|0.999538	B|.	0.09022|.	0.002|.	B|.	0.09377|.	0.004|.	T|T	0.19386|0.19386	-1.0307|-1.0307	10|5	0.11485|.	T|.	0.65|.	-0.8292|-0.8292	6.8136|6.8136	0.23819|0.23819	0.2543:0.0:0.7457:0.0|0.2543:0.0:0.7457:0.0	.|.	136|.	Q9UDV6|.	ZN212_HUMAN|.	T|D	136|33	ENSP00000338572:A136T|.	ENSP00000338572:A136T|.	A|G	+|+	1|2	0|0	ZNF212|ZNF212	148578564|148578564	0.001000|0.001000	0.12720|0.12720	0.857000|0.857000	0.33713|0.33713	0.997000|0.997000	0.91878|0.91878	0.413000|0.413000	0.21148|0.21148	0.551000|0.551000	0.29008|0.29008	0.563000|0.563000	0.77884|0.77884	GCC|GGC		0.557	ZNF212-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352710.1	NM_012256		14	212	0	0	0	1	0	14	212				
FAM86C2P	645332	broad.mit.edu	37	11	67560706	67560706	+	RNA	SNP	G	G	A	rs567454542	byFrequency	TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr11:67560706G>A	ENST00000528089.1	-	0	1044							A6NEL3	F86C2_HUMAN	family with sequence similarity 86, member C2, pseudogene									p.T123M(1)									AGTGCTCTTCGTAGGGAAACA	0.507													.|||	2	0.000399361	0.0	0.0014	5008	,	,		21739	0.0		0.0	False		,,,				2504	0.001					ENST00000528089.1																			1	Substitution - Missense(1)	p.T123M(1)	prostate(1)																																																0							g.chr11:67560706G>A			11q13.2	2011-07-07			ENSG00000160172	ENSG00000160172			42392	pseudogene	pseudogene							Standard	NR_024249		Approved		uc001omt.4	A6NEL3	OTTHUMG00000167222		11.37:g.67560706G>A														0	1044	-									RNA	SNP	ENST00000528089.1	37																																																																																						0.507	FAM86C2P-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000393796.1			6	152	0	0	0	1	0	6	152				
MMP3	4314	broad.mit.edu	37	11	102709910	102709910	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr11:102709910G>A	ENST00000299855.5	-	7	1256	c.1000C>T	c.(1000-1002)Cca>Tca	p.P334S	WTAPP1_ENST00000525739.2_RNA	NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	334					cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|positive regulation of oxidative stress-induced cell death (GO:1903209)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P334S(2)		endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)	GGAAGAGATGGCCAAAATGAA	0.353																																						ENST00000299855.5																			2	Substitution - Missense(2)	p.P334S(2)	prostate(2)	endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(1000-1002)Cca>Tca		matrix metallopeptidase 3 (stromelysin 1, progelatinase)	Marimastat(DB00786)|Simvastatin(DB00641)						92.0	101.0	98.0					11																	102709910		2203	4299	6502	SO:0001583	missense	4314				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102709910G>A	X05232	CCDS8323.1	11q22.3	2012-10-02	2005-08-08		ENSG00000149968	ENSG00000149968	3.4.24.17		7173	protein-coding gene	gene with protein product		185250	"""matrix metalloproteinase 3 (stromelysin 1, progelatinase)"""	STMY1, STMY			Standard	NM_002422		Approved		uc001phj.1	P08254	OTTHUMG00000048254	ENST00000299855.5:c.1000C>T	11.37:g.102709910G>A	ENSP00000299855:p.Pro334Ser						p.P334S	NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0142)	7	1256	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	334			Hemopexin-like 1.		B2R8B8|Q3B7S0|Q6GRF8	Missense_Mutation	SNP	ENST00000299855.5	37	c.1000C>T	CCDS8323.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.688726	0.68271	.	.	ENSG00000149968	ENST00000299855	T	0.03553	3.89	5.58	5.58	0.84498	Hemopexin/matrixin, conserved site (1);Hemopexin/matrixin (2);	0.000000	0.36519	N	0.002556	T	0.18130	0.0435	M	0.71206	2.165	0.80722	D	1	D	0.57899	0.981	D	0.65987	0.94	T	0.00005	-1.2533	10	0.59425	D	0.04	.	19.769	0.96353	0.0:0.0:1.0:0.0	.	334	P08254	MMP3_HUMAN	S	334	ENSP00000299855:P334S	ENSP00000299855:P334S	P	-	1	0	MMP3	102215120	1.000000	0.71417	1.000000	0.80357	0.100000	0.18952	5.667000	0.68067	2.906000	0.99361	0.655000	0.94253	CCA		0.353	MMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109758.2	NM_002422		4	203	0	0	0	1	0	4	203				
EPB41L4A	64097	broad.mit.edu	37	5	111598235	111598235	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr5:111598235C>T	ENST00000261486.5	-	7	874	c.598G>A	c.(598-600)Gcc>Acc	p.A200T		NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	200	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)		p.A200T(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		AGGGATTTGGCAGTCCTCAAG	0.408																																						ENST00000261486.5																			1	Substitution - Missense(1)	p.A200T(1)	prostate(1)	breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34						c.(598-600)Gcc>Acc		erythrocyte membrane protein band 4.1 like 4A							124.0	124.0	124.0					5																	111598235		1912	4121	6033	SO:0001583	missense	64097					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr5:111598235C>T	AB030240	CCDS43350.1	5q21.3	2008-02-05			ENSG00000129595	ENSG00000129595			13278	protein-coding gene	gene with protein product		612141				10874211	Standard	XM_005272043		Approved	NBL4	uc003kpv.1	Q9HCS5	OTTHUMG00000162902	ENST00000261486.5:c.598G>A	5.37:g.111598235C>T	ENSP00000261486:p.Ala200Thr						p.A200T	NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)	7	874	-		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)	200			FERM.		A4FUI6	Missense_Mutation	SNP	ENST00000261486.5	37	c.598G>A	CCDS43350.1	.	.	.	.	.	.	.	.	.	.	C	34	5.344958	0.95807	.	.	ENSG00000129595	ENST00000261486	T	0.79845	-1.31	5.54	5.54	0.83059	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);FERM conserved site (1);	0.113912	0.64402	D	0.000019	D	0.87981	0.6315	M	0.85299	2.745	0.43347	D	0.995403	P	0.50819	0.939	P	0.51324	0.666	D	0.89722	0.3920	10	0.87932	D	0	.	18.6127	0.91291	0.0:1.0:0.0:0.0	.	200	Q9HCS5	E41LA_HUMAN	T	200	ENSP00000261486:A200T	ENSP00000261486:A200T	A	-	1	0	EPB41L4A	111626134	1.000000	0.71417	0.989000	0.46669	0.996000	0.88848	4.303000	0.59098	2.764000	0.94973	0.655000	0.94253	GCC		0.408	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370969.1			4	242	0	0	0	1	0	4	242				
H1F0	3005	broad.mit.edu	37	22	38202050	38202050	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr22:38202050C>T	ENST00000340857.2	+	1	937	c.499C>T	c.(499-501)Ccg>Tcg	p.P167S	GCAT_ENST00000323205.6_5'Flank|GCAT_ENST00000248924.6_5'Flank	NM_005318.3	NP_005309.1	P07305	H10_HUMAN	H1 histone family, member 0	167					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|nucleosome assembly (GO:0006334)	actin cytoskeleton (GO:0015629)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)	p.P167S(1)		cervix(1)|endometrium(1)|kidney(2)|prostate(2)|urinary_tract(1)	7	Melanoma(58;0.045)					CAAAGCCAAGCCGGTCAAGGC	0.522																																					NSCLC(191;1872 2984 30230 41544)|Esophageal Squamous(4;11 371 39444 52196)	ENST00000340857.2																			1	Substitution - Missense(1)	p.P167S(1)	prostate(1)	cervix(1)|endometrium(1)|kidney(2)|prostate(2)|urinary_tract(1)	7						c.(499-501)Ccg>Tcg		H1 histone family, member 0							62.0	64.0	63.0					22																	38202050		2203	4300	6503	SO:0001583	missense	3005				DNA fragmentation involved in apoptotic nuclear change|nucleosome assembly	actin cytoskeleton|Golgi apparatus|nucleoplasm|nucleosome	DNA binding	g.chr22:38202050C>T	X03473	CCDS13956.1	22q13.1	2011-01-27			ENSG00000189060	ENSG00000189060		"""Histones / Replication-independent"""	4714	protein-coding gene	gene with protein product	"""H1.0, H1(0), H1-0"""	142708		H1FV		3084796	Standard	NM_005318		Approved	H10	uc003aty.3	P07305	OTTHUMG00000150659	ENST00000340857.2:c.499C>T	22.37:g.38202050C>T	ENSP00000344504:p.Pro167Ser						p.P167S	NM_005318.3	NP_005309.1	P07305	H10_HUMAN			1	937	+	Melanoma(58;0.045)		167					B2R6I0|B4DRD6|Q6FG88|Q8N6R3	Missense_Mutation	SNP	ENST00000340857.2	37	c.499C>T	CCDS13956.1	.	.	.	.	.	.	.	.	.	.	c	12.40	1.925407	0.34002	.	.	ENSG00000189060	ENST00000340857;ENST00000455466	T	0.05925	3.37	5.32	4.3	0.51218	.	0.516121	0.20262	N	0.095854	T	0.04048	0.0113	N	0.14661	0.345	0.43187	D	0.995017	B	0.25235	0.121	B	0.15870	0.014	T	0.49360	-0.8948	10	0.23302	T	0.38	.	11.2725	0.49147	0.0:0.8401:0.0:0.1599	.	167	P07305	H10_HUMAN	S	167;150	ENSP00000344504:P167S	ENSP00000344504:P167S	P	+	1	0	H1F0	36531996	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	1.898000	0.39809	1.389000	0.46526	0.655000	0.94253	CCG		0.522	H1F0-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319453.1	NM_005318		3	39	0	0	0	1	0	3	39				
FAM86DP	692099	broad.mit.edu	37	3	75475639	75475639	+	RNA	SNP	T	T	C			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr3:75475639T>C	ENST00000459803.1	-	0	890					NR_024241.1				family with sequence similarity 86, member D, pseudogene									p.H284R(1)									CTCTGGGTTGTGGACGGTAAA	0.662																																						ENST00000459803.1																			1	Substitution - Missense(1)	p.H284R(1)	endometrium(1)																																																0							g.chr3:75475639T>C	BC016686		3p12.3	2010-06-04	2010-06-04	2010-06-04	ENSG00000244026	ENSG00000244026			32659	pseudogene	pseudogene			"""family with sequence similarity 86, member D"""	FAM86D			Standard	NR_024241		Approved		uc003dpp.4		OTTHUMG00000158855		3.37:g.75475639T>C								NR_024241.1						0	890	-									RNA	SNP	ENST00000459803.1	37																																																																																						0.662	FAM86DP-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352425.1	NR_024241		6	111	0	0	0	1	0	6	111				
WHAMMP3	339005	broad.mit.edu	37	15	23205108	23205108	+	RNA	SNP	C	C	T			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr15:23205108C>T	ENST00000400153.2	-	0	746					NR_003521.1		Q1A5X7	WHAL1_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 3																		GTGGTTGCCACGGTAACTAAT	0.393																																						ENST00000400153.2																			0																																																			0							g.chr15:23205108C>T	BC048987		15q11.2	2014-03-20	2011-06-24	2011-06-24	ENSG00000187667	ENSG00000276141			27892	pseudogene	pseudogene			"""WAS protein homology region 2 domain containing 1-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1 (pseudogene)"""	WHDC1L1, WHAMML1		18226259	Standard	NR_003521		Approved		uc001yvg.3	Q1A5X7	OTTHUMG00000171921		15.37:g.23205108C>T								NR_003521.1						0	746	-								Q1A5X8|Q52M16|Q52M18	RNA	SNP	ENST00000400153.2	37																																																																																						0.393	WHAMMP3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415907.1	NR_003521		3	30	0	0	0	1	0	3	30				
NADK2	133686	broad.mit.edu	37	5	36225709	36225709	+	Silent	SNP	C	C	A			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr5:36225709C>A	ENST00000381937.4	-	4	494	c.495G>T	c.(493-495)ctG>ctT	p.L165L	NADK2_ENST00000514504.1_Silent_p.L165L|NADK2_ENST00000282512.3_Silent_p.L2L|NADK2_ENST00000506945.1_Silent_p.L2L|NADK2_ENST00000397338.1_Silent_p.L2L	NM_001085411.1	NP_001078880.1	Q4G0N4	NAKD2_HUMAN	NAD kinase 2, mitochondrial	165					NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|NAD+ kinase activity (GO:0003951)|protein homodimerization activity (GO:0042803)	p.L2L(1)									TCGCTGCCAGCAGCATTGTGC	0.358																																						ENST00000397338.1																			1	Substitution - coding silent(1)	p.L2L(1)	prostate(1)								c.(4-6)ctG>ctT		NAD kinase 2, mitochondrial							126.0	113.0	118.0					5																	36225709		2203	4300	6503	SO:0001819	synonymous_variant	133686							g.chr5:36225709C>A	BC062567	CCDS3917.1, CCDS47197.1, CCDS75235.1	5p13.2	2013-04-30	2013-04-30	2013-04-30	ENSG00000152620	ENSG00000152620			26404	protein-coding gene	gene with protein product	"""mitochondrial NAD kinase"""	615787	"""chromosome 5 open reading frame 33"", ""NAD kinase domain containing 1"""	C5orf33, NADKD1		23616928	Standard	NM_001085411		Approved	FLJ30596, MNADK	uc003jkf.4	Q4G0N4	OTTHUMG00000131105	ENST00000381937.4:c.495G>T	5.37:g.36225709C>A						NADK2_ENST00000381937.4_Silent_p.L165L|NADK2_ENST00000514504.1_Silent_p.L165L|NADK2_ENST00000506945.1_Silent_p.L2L|NADK2_ENST00000282512.3_Silent_p.L2L	p.L2L							4	227	-								B5MC93|Q6UTX5|Q96NM0	Silent	SNP	ENST00000381937.4	37	c.6G>T	CCDS47197.1																																																																																				0.358	NADK2-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367541.1	NM_153013		4	222	1	0	0.184627	1	0.204587	4	222				
INS-IGF2	723961	broad.mit.edu	37	11	2182081	2182081	+	Silent	SNP	G	G	A			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr11:2182081G>A	ENST00000397270.1	-	2	179	c.121C>T	c.(121-123)Cta>Tta	p.L41L	INS_ENST00000250971.3_Silent_p.L41L|INS_ENST00000381330.4_Silent_p.L41L|INS_ENST00000397262.1_Silent_p.L41L|INS-IGF2_ENST00000481781.1_5'Flank|INS_ENST00000512523.1_Silent_p.L41L	NM_001042376.2	NP_001035835.1	F8WCM5	INSR2_HUMAN	INS-IGF2 readthrough	41						extracellular region (GO:0005576)		p.L41L(2)		haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	5		all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156)		CCGCACACTAGGTAGAGAGCT	0.662																																						ENST00000397270.1																			2	Substitution - coding silent(2)	p.L41L(2)	prostate(2)	haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	5						c.(121-123)Cta>Tta									63.0	64.0	64.0					11																	2182081		2200	4299	6499	SO:0001819	synonymous_variant	0				glucose metabolic process	extracellular region	hormone activity	g.chr11:2182081G>A	DQ104205	CCDS41598.1	11p15.5	2011-03-23			ENSG00000129965	ENSG00000129965			33527	other	readthrough						16531418	Standard	NM_001042376		Approved		uc001lvm.3	F8WCM5	OTTHUMG00000166213	ENST00000397270.1:c.121C>T	11.37:g.2182081G>A						INS_ENST00000250971.3_Silent_p.L41L|INS_ENST00000397262.1_Silent_p.L41L|INS_ENST00000381330.4_Silent_p.L41L|INS_ENST00000512523.1_Silent_p.L41L	p.L41L	NM_001042376.2	NP_001035835.1	Q1WM24	Q1WM24_HUMAN	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156)	2	179	-		all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	41					Q1WM24	Silent	SNP	ENST00000397270.1	37	c.121C>T	CCDS41598.1																																																																																				0.662	INS-IGF2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000388404.1	NM_001042376.2		4	91	0	0	0	1	0	4	91				
OR4D5	219875	broad.mit.edu	37	11	123810566	123810566	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr11:123810566G>T	ENST00000307033.2	+	1	317	c.243G>T	c.(241-243)atG>atT	p.M81I		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	81						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M81I(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CACCTAGGATGCTGGTTGACT	0.483																																						ENST00000307033.2																			1	Substitution - Missense(1)	p.M81I(1)	prostate(1)	autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(241-243)atG>atT		olfactory receptor, family 4, subfamily D, member 5							166.0	138.0	148.0					11																	123810566		2202	4299	6501	SO:0001583	missense	219875				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123810566G>T	BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"""GPCR / Class A : Olfactory receptors"""	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.243G>T	11.37:g.123810566G>T	ENSP00000305970:p.Met81Ile						p.M81I	NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	317	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	81					B9EGZ4|Q6IFE6	Missense_Mutation	SNP	ENST00000307033.2	37	c.243G>T	CCDS31699.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.457525	0.63401	.	.	ENSG00000171014	ENST00000307033	T	0.05513	3.43	5.28	5.28	0.74379	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000015	T	0.11110	0.0271	M	0.70903	2.155	0.32225	N	0.574706	B	0.14438	0.01	B	0.09377	0.004	T	0.01464	-1.1348	10	0.66056	D	0.02	-21.7369	14.5707	0.68208	0.0:0.191:0.809:0.0	.	81	Q8NGN0	OR4D5_HUMAN	I	81	ENSP00000305970:M81I	ENSP00000305970:M81I	M	+	3	0	OR4D5	123315776	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	3.245000	0.51407	2.457000	0.83068	0.655000	0.94253	ATG		0.483	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965		4	240	1	0	1	1	1	4	240				
PCDHA3	56145	broad.mit.edu	37	5	140181572	140181572	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr5:140181572G>A	ENST00000522353.2	+	1	790	c.790G>A	c.(790-792)Gtt>Att	p.V264I	PCDHA3_ENST00000532566.2_Missense_Mutation_p.V264I|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	264	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.V264I(4)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTGGTGACCGTTAACGCCAC	0.418																																						ENST00000522353.2																			4	Substitution - Missense(4)	p.V264I(4)	prostate(2)|endometrium(2)	NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(790-792)Gtt>Att									70.0	66.0	67.0					5																	140181572		2203	4300	6503	SO:0001583	missense	0							g.chr5:140181572G>A	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.790G>A	5.37:g.140181572G>A	ENSP00000429808:p.Val264Ile					PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.V264I|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron	p.V264I	NM_018906.2	NP_061729.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	790	+								O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.790G>A	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	g	8.907	0.957722	0.18507	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.56611	0.45;0.45	4.86	1.81	0.25067	Cadherin (5);Cadherin-like (1);	0.422853	0.16918	U	0.194218	T	0.42494	0.1205	L	0.46567	1.45	0.09310	N	1	P;P	0.47962	0.903;0.664	B;B	0.43360	0.303;0.417	T	0.33777	-0.9855	10	0.59425	D	0.04	.	4.5835	0.12271	0.0779:0.3157:0.4118:0.1946	.	264;264	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	I	264	ENSP00000429808:V264I;ENSP00000434086:V264I	ENSP00000429808:V264I	V	+	1	0	PCDHA3	140161756	0.000000	0.05858	0.670000	0.29842	0.471000	0.32888	-3.514000	0.00445	1.149000	0.42402	0.467000	0.42956	GTT		0.418	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		4	133	0	0	0	1	0	4	133				
ABCC10	89845	broad.mit.edu	37	6	43400462	43400462	+	Silent	SNP	C	C	T			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr6:43400462C>T	ENST00000372530.4	+	3	959	c.744C>T	c.(742-744)tgC>tgT	p.C248C	ABCC10_ENST00000443426.2_Intron|ABCC10_ENST00000244533.3_Silent_p.C205C	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	248					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.C205C(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	AGGACATTTGCCGCCTCCCCC	0.642																																						ENST00000244533.3																			1	Substitution - coding silent(1)	p.C205C(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(613-615)tgC>tgT		ATP-binding cassette, sub-family C (CFTR/MRP), member 10							37.0	39.0	39.0					6																	43400462		2203	4300	6503	SO:0001819	synonymous_variant	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43400462C>T	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.744C>T	6.37:g.43400462C>T						ABCC10_ENST00000372530.4_Silent_p.C248C|ABCC10_ENST00000443426.2_Intron	p.C205C	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		1	974	+	all_lung(25;0.00536)		248					Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Silent	SNP	ENST00000372530.4	37	c.615C>T	CCDS56430.1																																																																																				0.642	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		3	58	0	0	0	1	0	3	58				
ABCA3	21	broad.mit.edu	37	16	2354107	2354107	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr16:2354107C>T	ENST00000301732.5	-	12	2030	c.1330G>A	c.(1330-1332)Gac>Aac	p.D444N	ABCA3_ENST00000382381.3_Missense_Mutation_p.D386N	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	444					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.D444N(1)		breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	AAGTCGTCGTCCACGTTGACG	0.632																																						ENST00000301732.5																			1	Substitution - Missense(1)	p.D444N(1)	prostate(1)	breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70						c.(1330-1332)Gac>Aac		ATP-binding cassette, sub-family A (ABC1), member 3							171.0	151.0	158.0					16																	2354107		2198	4300	6498	SO:0001583	missense	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2354107C>T	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.1330G>A	16.37:g.2354107C>T	ENSP00000301732:p.Asp444Asn					ABCA3_ENST00000382381.3_Missense_Mutation_p.D386N	p.D444N	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN			12	2030	-		Ovarian(90;0.17)	444					B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	ENST00000301732.5	37	c.1330G>A	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.693608	0.48202	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	D	0.88975	-2.45	5.64	4.69	0.59074	.	0.156294	0.56097	D	0.000026	D	0.91663	0.7365	M	0.69358	2.11	0.80722	D	1	P;B;P	0.51240	0.943;0.005;0.943	P;B;P	0.57548	0.823;0.009;0.823	D	0.91416	0.5155	10	0.48119	T	0.1	.	12.2217	0.54437	0.0:0.919:0.0:0.081	.	444;448;444	A7MBM9;Q4LE27;Q99758	.;.;ABCA3_HUMAN	N	444;448	ENSP00000301732:D444N	ENSP00000301732:D444N	D	-	1	0	ABCA3	2294108	1.000000	0.71417	0.088000	0.20740	0.893000	0.52053	7.317000	0.79018	1.623000	0.50342	0.650000	0.86243	GAC		0.632	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		5	240	0	0	0	1	0	5	240				
TPRN	286262	broad.mit.edu	37	9	140093678	140093678	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr9:140093678G>A	ENST00000409012.4	-	1	1572	c.1486C>T	c.(1486-1488)Cgg>Tgg	p.R496W	TPRN_ENST00000321773.2_Missense_Mutation_p.R435W|TPRN_ENST00000541945.1_Intron	NM_001128228.2	NP_001121700.2	Q4KMQ1	TPRN_HUMAN	taperin	496					sensory perception of sound (GO:0007605)	stereocilium (GO:0032420)		p.R190W(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						TTGCTGCCCCGGGGCTGAAGC	0.682																																						ENST00000409012.4																			1	Substitution - Missense(1)	p.R190W(1)	prostate(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						c.(1486-1488)Cgg>Tgg		taperin							51.0	53.0	52.0					9																	140093678		2203	4300	6503	SO:0001583	missense	286262				sensory perception of sound	stereocilium		g.chr9:140093678G>A	AK074735	CCDS56594.1	9q34.3	2011-01-06	2010-03-24	2010-03-24	ENSG00000176058	ENSG00000176058			26894	protein-coding gene	gene with protein product		613354	"""chromosome 9 open reading frame 75"", ""deafness, autosomal recessive 79"""	C9orf75, DFNB79		20170898, 20170899	Standard	NM_001128228		Approved	FLJ90254	uc004clu.3	Q4KMQ1	OTTHUMG00000020984	ENST00000409012.4:c.1486C>T	9.37:g.140093678G>A	ENSP00000387100:p.Arg496Trp					TPRN_ENST00000321773.2_Missense_Mutation_p.R435W|TPRN_ENST00000541945.1_Intron	p.R496W	NM_001128228.2	NP_001121700.2	Q4KMQ1	TPRN_HUMAN			1	1572	-			496					B7ZKU5|Q5VSG5|Q5VSG6|Q6IPP2|Q8NCH2	Missense_Mutation	SNP	ENST00000409012.4	37	c.1486C>T	CCDS56594.1	.	.	.	.	.	.	.	.	.	.	G	9.820	1.185503	0.21870	.	.	ENSG00000176058	ENST00000333046;ENST00000409012;ENST00000321773	.	.	.	3.66	-0.896	0.10557	.	0.151030	0.41097	D	0.000942	T	0.55481	0.1923	M	0.75264	2.295	0.09310	N	1	D	0.89917	1.0	D	0.73380	0.98	T	0.49263	-0.8958	9	0.87932	D	0	-8.0677	6.5532	0.22446	0.0:0.1687:0.3149:0.5164	.	496	Q4KMQ1	TPRN_HUMAN	W	294;496;435	.	ENSP00000313704:R435W	R	-	1	2	TPRN	139213499	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-0.149000	0.10204	-0.463000	0.06973	-0.475000	0.04921	CGG		0.682	TPRN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055323.3	NM_173691		3	110	0	0	0	1	0	3	110				
ERCC5	2073	broad.mit.edu	37	13	103514446	103514446	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr13:103514446G>A	ENST00000355739.4	+	8	2370	c.947G>A	c.(946-948)gGc>gAc	p.G316D	BIVM-ERCC5_ENST00000602836.1_Silent_p.R741R|ERCC5_ENST00000375954.1_5'Flank	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	316					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)	p.G316D(2)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AAAATGCACGGCATGTCTTTT	0.418			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000355739.4			yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	"""Mis, N, F"""	"""excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"""			E		"""skin basal cell, skin squamous cell, melanoma"""			2	Substitution - Missense(2)	p.G316D(2)	prostate(2)	breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51						c.(946-948)gGc>gAc	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 5							127.0	134.0	132.0					13																	103514446		2203	4300	6503	SO:0001583	missense	2073	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV				g.chr13:103514446G>A	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"""Cockayne syndrome"""	133530	"""xeroderma pigmentosum, complementation group G"", ""excision repair cross-complementing rodent repair deficiency, complementation group 5"""	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.947G>A	13.37:g.103514446G>A	ENSP00000347978:p.Gly316Asp					BIVM-ERCC5_ENST00000602836.1_Silent_p.R741R	p.G316D	NM_000123.3	NP_000114.2					8	2370	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)							A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Missense_Mutation	SNP	ENST00000355739.4	37	c.947G>A	CCDS32004.1	.	.	.	.	.	.	.	.	.	.	G	10.80	1.453439	0.26161	.	.	ENSG00000134899	ENST00000418659;ENST00000355739;ENST00000375955	T	0.17854	2.25	4.74	2.97	0.34412	.	0.663319	0.16253	N	0.222606	T	0.07773	0.0195	N	0.14661	0.345	0.20307	N	0.999918	B;B;B	0.11235	0.0;0.0;0.004	B;B;B	0.01281	0.0;0.0;0.0	T	0.37776	-0.9691	10	0.12430	T	0.62	-6.5681	5.1355	0.14932	0.4244:0.0:0.5756:0.0	.	316;316;741	B4DSI5;P28715;Q59FZ7	.;ERCC5_HUMAN;.	D	741;316;148	ENSP00000347978:G316D	ENSP00000347978:G316D	G	+	2	0	ERCC5	102312447	0.003000	0.15002	0.004000	0.12327	0.789000	0.44602	0.959000	0.29240	1.102000	0.41551	0.655000	0.94253	GGC		0.418	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1			5	430	0	0	0	1	0	5	430				
CALML6	163688	broad.mit.edu	37	1	1848280	1848280	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr1:1848280G>A	ENST00000307786.3	+	4	797	c.343G>A	c.(343-345)Gca>Aca	p.A115T	CALML6_ENST00000462293.1_3'UTR	NM_138705.2	NP_619650.2	Q8TD86	CALL6_HUMAN	calmodulin-like 6	115	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.A115T(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	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;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.94e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.83e-23)|GBM - Glioblastoma multiforme(42;3.23e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GCTGAGGGCGGCATTCCGTGT	0.597																																						ENST00000307786.3																			2	Substitution - Missense(2)	p.A115T(2)	prostate(1)|lung(1)	NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7						c.(343-345)Gca>Aca		calmodulin-like 6							98.0	107.0	104.0					1																	1848280		2203	4300	6503	SO:0001583	missense	163688					cytoplasm|nucleus	calcium ion binding	g.chr1:1848280G>A	AF490905	CCDS30566.1	1p36.33	2013-01-10			ENSG00000169885	ENSG00000169885		"""EF-hand domain containing"""	24193	protein-coding gene	gene with protein product		610171					Standard	NM_138705		Approved	CAGLP	uc001aih.1	Q8TD86	OTTHUMG00000000943	ENST00000307786.3:c.343G>A	1.37:g.1848280G>A	ENSP00000304643:p.Ala115Thr					CALML6_ENST00000462293.1_3'UTR	p.A115T	NM_138705.2	NP_619650.2	Q8TD86	CALL6_HUMAN		Epithelial(90;1.94e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.83e-23)|GBM - Glioblastoma multiforme(42;3.23e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	4	797	+	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;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	115			EF-hand 3.		A2A2M3|Q6Q2C4	Missense_Mutation	SNP	ENST00000307786.3	37	c.343G>A	CCDS30566.1	.	.	.	.	.	.	.	.	.	.	.	13.14	2.147600	0.37923	.	.	ENSG00000169885	ENST00000307786;ENST00000378604	T;T	0.74002	-0.8;-0.8	2.99	2.06	0.26882	EF-hand-like domain (1);	.	.	.	.	D	0.85035	0.5605	M	0.87038	2.855	0.27022	N	0.964453	D	0.89917	1.0	D	0.87578	0.998	T	0.73180	-0.4064	9	0.87932	D	0	.	5.8798	0.18848	0.1554:0.0:0.8446:0.0	.	115	Q8TD86	CALL6_HUMAN	T	115;98	ENSP00000304643:A115T;ENSP00000367867:A98T	ENSP00000304643:A115T	A	+	1	0	CALML6	1838140	0.056000	0.20664	0.030000	0.17652	0.359000	0.29487	1.847000	0.39299	0.594000	0.29761	0.313000	0.20887	GCA		0.597	CALML6-004	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276929.1	NM_138705		4	205	0	0	0	1	0	4	205				
EML5	161436	broad.mit.edu	37	14	89083083	89083083	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr14:89083083C>T	ENST00000380664.5	-	40	5758	c.5759G>A	c.(5758-5760)tGt>tAt	p.C1920Y	EML5_ENST00000352093.5_Missense_Mutation_p.C1882Y|EML5_ENST00000554922.1_Missense_Mutation_p.C1928Y			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1920						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)	p.C1928Y(2)		breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TTTTTCTGGACATGGGAAGTC	0.348																																						ENST00000554922.1																			2	Substitution - Missense(2)	p.C1928Y(2)	prostate(2)	breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(5782-5784)tGt>tAt		echinoderm microtubule associated protein like 5							58.0	54.0	55.0					14																	89083083		1857	4091	5948	SO:0001583	missense	161436					cytoplasm|microtubule		g.chr14:89083083C>T	AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.5759G>A	14.37:g.89083083C>T	ENSP00000370039:p.Cys1920Tyr					EML5_ENST00000352093.5_Missense_Mutation_p.C1882Y|EML5_ENST00000380664.5_Missense_Mutation_p.C1920Y	p.C1928Y	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN			42	6031	-			1920	K -> R (in Ref. 2; AAI50640).				B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	ENST00000380664.5	37	c.5783G>A	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.307942	0.81247	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.16597	2.33;2.33;2.33	5.26	5.26	0.73747	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.49525	0.1562	M	0.89414	3.03	0.80722	D	1	D	0.69078	0.997	D	0.66351	0.943	T	0.58999	-0.7536	10	0.87932	D	0	-13.8721	19.2291	0.93831	0.0:1.0:0.0:0.0	.	1920	Q05BV3	EMAL5_HUMAN	Y	1928;1882;1920	ENSP00000451998:C1928Y;ENSP00000298315:C1882Y;ENSP00000370039:C1920Y	ENSP00000298315:C1882Y	C	-	2	0	EML5	88152836	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.693000	0.68264	2.614000	0.88457	0.655000	0.94253	TGT		0.348	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1			4	49	0	0	0	1	0	4	49				
AKAP17A	8227	broad.mit.edu	37	X	1712960	1712960	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chrX:1712960G>A	ENST00000313871.3	+	2	801	c.605G>A	c.(604-606)cGc>cAc	p.R202H	AKAP17A_ENST00000381261.3_Missense_Mutation_p.R202H	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	202	RRM.				B cell activation (GO:0042113)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)	p.R202H(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						ATGACGGGCCGCAACTTCCAC	0.607																																						ENST00000313871.3																			1	Substitution - Missense(1)	p.R202H(1)	prostate(1)	breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						c.(604-606)cGc>cAc		A kinase (PRKA) anchor protein 17A							133.0	121.0	125.0					X																	1712960		2203	4296	6499	SO:0001583	missense	8227				B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chrX:1712960G>A	L03426	CCDS14116.1	Xp22.33 and Yp11.32	2010-09-08	2010-09-08	2010-09-08	ENSG00000197976	ENSG00000197976		"""Pseudoautosomal regions / PAR1"", ""A-kinase anchor proteins"""	18783	protein-coding gene	gene with protein product		312095, 465000	"""chromosome X and Y open reading frame 3"", ""splicing factor, arginine/serine-rich 17A"""	CXYorf3, SFRS17A		9736779, 1438229, 19840947	Standard	NR_027383		Approved	XE7, XE7Y, DXYS155E, MGC39904, 721P, CCDC133	uc004cqa.3	Q02040	OTTHUMG00000021063	ENST00000313871.3:c.605G>A	X.37:g.1712960G>A	ENSP00000324827:p.Arg202His					AKAP17A_ENST00000381261.3_Missense_Mutation_p.R202H	p.R202H	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN			2	801	+			202			RRM.		Q02832|Q2TB98|Q5JQ74|Q5JQ76|Q8N6U9	Missense_Mutation	SNP	ENST00000313871.3	37	c.605G>A	CCDS14116.1	.	.	.	.	.	.	.	.	.	.	g	8.011	0.757547	0.15846	.	.	ENSG00000197976	ENST00000313871;ENST00000381261	T;T	0.32988	1.43;1.43	1.83	0.897	0.19258	Nucleotide-binding, alpha-beta plait (1);	0.244102	0.29868	U	0.010997	T	0.34424	0.0897	.	.	.	0.21416	N	0.999697	D;D	0.67145	0.996;0.99	P;P	0.54431	0.648;0.752	T	0.19549	-1.0302	9	0.31617	T	0.26	.	8.4731	0.32997	0.1332:0.0:0.8668:0.0	.	202;202	Q02040-3;Q02040	.;AK17A_HUMAN	H	202	ENSP00000324827:R202H;ENSP00000370660:R202H	ENSP00000324827:R202H	R	+	2	0	AKAP17A	1672960	1.000000	0.71417	0.030000	0.17652	0.349000	0.29174	5.072000	0.64389	-0.129000	0.11620	0.100000	0.15512	CGC		0.607	AKAP17A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055609.2	NM_005088		4	180	0	0	0	1	0	4	180				
BRINP2	57795	broad.mit.edu	37	1	177199242	177199242	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr1:177199242G>A	ENST00000361539.4	+	2	542	c.230G>A	c.(229-231)cGg>cAg	p.R77Q		NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	77					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)		p.R77Q(1)									TTCATGGAGCGGTACCGCCAG	0.617																																						ENST00000361539.4																			1	Substitution - Missense(1)	p.R77Q(1)	prostate(1)	breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						c.(229-231)cGg>cAg									58.0	64.0	62.0					1																	177199242		2203	4298	6501	SO:0001583	missense	0					extracellular region		g.chr1:177199242G>A		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.230G>A	1.37:g.177199242G>A	ENSP00000354481:p.Arg77Gln						p.R77Q	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN			2	542	+			77					O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	c.230G>A	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.392483	0.83011	.	.	ENSG00000198797	ENST00000361539	T	0.18016	2.24	5.63	5.63	0.86233	.	0.000000	0.64402	D	0.000003	T	0.24353	0.0590	M	0.70903	2.155	0.50467	D	0.999874	D	0.53745	0.962	B	0.40782	0.34	T	0.03933	-1.0991	10	0.35671	T	0.21	-27.1643	19.3046	0.94155	0.0:0.0:1.0:0.0	.	77	Q9C0B6	FAM5B_HUMAN	Q	77	ENSP00000354481:R77Q	ENSP00000354481:R77Q	R	+	2	0	FAM5B	175465865	1.000000	0.71417	0.990000	0.47175	0.993000	0.82548	5.535000	0.67173	2.652000	0.90054	0.655000	0.94253	CGG		0.617	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		5	149	0	0	0	1	0	5	149				
ZPBP2	124626	broad.mit.edu	37	17	38028691	38028691	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr17:38028691T>C	ENST00000348931.4	+	5	766	c.575T>C	c.(574-576)gTt>gCt	p.V192A	ZPBP2_ENST00000584588.1_Intron|ZPBP2_ENST00000377940.3_Missense_Mutation_p.V170A	NM_199321.2	NP_955353.1	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	192					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)		p.V192A(1)		kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			TGCCATTCTGTTGAAATTCCA	0.303																																						ENST00000377940.3																			1	Substitution - Missense(1)	p.V192A(1)	prostate(1)	kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(508-510)gTt>gCt		zona pellucida binding protein 2							73.0	66.0	68.0					17																	38028691		2202	4299	6501	SO:0001583	missense	124626				binding of sperm to zona pellucida	extracellular region		g.chr17:38028691T>C	BC043152	CCDS11352.1, CCDS11353.2	17q21.1	2013-01-11			ENSG00000186075	ENSG00000186075		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	20678	protein-coding gene	gene with protein product		608499					Standard	XM_005257031		Approved	ZPBPL, MGC41930	uc002hte.3	Q6X784	OTTHUMG00000133022	ENST00000348931.4:c.575T>C	17.37:g.38028691T>C	ENSP00000335384:p.Val192Ala					ZPBP2_ENST00000584588.1_Intron|ZPBP2_ENST00000348931.4_Missense_Mutation_p.V192A	p.V170A	NM_198844.2	NP_942141.2	Q6X784	ZPBP2_HUMAN	Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)		4	648	+	Colorectal(19;0.000442)		192					A8K8L8|Q6X783|Q86XL5	Missense_Mutation	SNP	ENST00000348931.4	37	c.509T>C	CCDS11352.1	.	.	.	.	.	.	.	.	.	.	T	10.83	1.461109	0.26248	.	.	ENSG00000186075	ENST00000348931;ENST00000377940	T;T	0.59638	0.25;0.25	5.48	5.48	0.80851	.	0.545013	0.16792	N	0.199346	T	0.69070	0.3070	M	0.72894	2.215	0.22305	N	0.999214	D;P	0.58268	0.982;0.951	P;P	0.54889	0.763;0.76	T	0.64063	-0.6495	10	0.51188	T	0.08	-15.1354	13.8112	0.63264	0.0:0.0:0.0:1.0	.	170;192	Q6X784-2;Q6X784	.;ZPBP2_HUMAN	A	192;170	ENSP00000335384:V192A;ENSP00000367174:V170A	ENSP00000335384:V192A	V	+	2	0	ZPBP2	35282217	1.000000	0.71417	0.985000	0.45067	0.665000	0.39181	4.703000	0.61824	2.075000	0.62263	0.377000	0.23210	GTT		0.303	ZPBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256609.2	NM_198844		3	126	0	0	0	1	0	3	126				
CD200R1L	344807	broad.mit.edu	37	3	112546284	112546284	+	Silent	SNP	G	G	A			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr3:112546284G>A	ENST00000398214.1	-	3	585	c.360C>T	c.(358-360)gaC>gaT	p.D120D	CD200R1L_ENST00000488794.1_Silent_p.D99D|CD200R1L_ENST00000448932.1_Silent_p.D99D	NM_001008784.2	NP_001008784.2	Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	120	Ig-like V-type.					integral component of membrane (GO:0016021)		p.D120D(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						TGTAATACCCGTCATGAGTGG	0.463																																						ENST00000488794.1																			1	Substitution - coding silent(1)	p.D120D(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						c.(295-297)gaC>gaT		CD200 receptor 1-like							137.0	133.0	135.0					3																	112546284		2203	4300	6503	SO:0001819	synonymous_variant	344807					integral to membrane	receptor activity	g.chr3:112546284G>A	AY284976	CCDS43131.1, CCDS56267.1	3q13.2	2014-05-15	2008-10-08		ENSG00000206531	ENSG00000206531		"""Immunoglobulin superfamily / C2-set domain containing"""	24665	protein-coding gene	gene with protein product	"""CD200 receptor 2"""						Standard	NM_001008784		Approved	CD200RLa, CD200R2	uc003dzi.1	Q6Q8B3	OTTHUMG00000159283	ENST00000398214.1:c.360C>T	3.37:g.112546284G>A						CD200R1L_ENST00000448932.1_Silent_p.D99D|CD200R1L_ENST00000398214.1_Silent_p.D120D	p.D99D			Q6Q8B3	MO2R2_HUMAN			5	886	-			120			Ig-like V-type.		Q6WHB7	Silent	SNP	ENST00000398214.1	37	c.297C>T	CCDS43131.1																																																																																				0.463	CD200R1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354365.1	NM_001008784		7	268	0	0	0	1	0	7	268				
DOCK8	81704	broad.mit.edu	37	9	428369	428369	+	Nonsense_Mutation	SNP	C	C	A	rs370123223		TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr9:428369C>A	ENST00000453981.1	+	35	4458	c.4346C>A	c.(4345-4347)tCg>tAg	p.S1449*	DOCK8_ENST00000469391.1_Nonsense_Mutation_p.S1349*|DOCK8_ENST00000432829.2_Nonsense_Mutation_p.S1381*|DOCK8_ENST00000382329.1_Nonsense_Mutation_p.S916*			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1449					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.S1381*(2)|p.S1449*(1)		breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CAGGCGAGCTCGGCTCTGGAC	0.502																																						ENST00000432829.2																			3	Substitution - Nonsense(3)	p.S1381*(2)|p.S1449*(1)	prostate(3)	breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65						c.(4141-4143)tCg>tAg		dedicator of cytokinesis 8							125.0	102.0	110.0					9																	428369		2203	4300	6503	SO:0001587	stop_gained	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:428369C>A	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.4346C>A	9.37:g.428369C>A	ENSP00000408464:p.Ser1449*					DOCK8_ENST00000382329.1_Nonsense_Mutation_p.S916*|DOCK8_ENST00000469391.1_Nonsense_Mutation_p.S1349*|DOCK8_ENST00000453981.1_Nonsense_Mutation_p.S1449*	p.S1381*	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	35	4458	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	1449			DHR-2.		A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Nonsense_Mutation	SNP	ENST00000453981.1	37	c.4142C>A	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	C	44	10.999450	0.99501	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	.	.	.	5.65	5.65	0.86999	.	0.381500	0.30556	N	0.009377	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	9.8974	0.41327	0.0:0.8436:0.0:0.1564	.	.	.	.	X	1449;1417;1381;1349;916	.	ENSP00000287364:S1417X	S	+	2	0	DOCK8	418369	0.991000	0.36638	0.756000	0.31282	0.339000	0.28857	2.888000	0.48594	2.648000	0.89879	0.650000	0.86243	TCG		0.502	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		4	123	1	0	0.00909568	1	0.010359	4	123				
HIST2H2BF	440689	broad.mit.edu	37	1	149783718	149783718	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr1:149783718C>T	ENST00000369167.1	-	1	196	c.161G>A	c.(160-162)gGc>gAc	p.G54D	HIST2H2BF_ENST00000427880.2_Missense_Mutation_p.G54D|HIST2H2BF_ENST00000545683.1_Missense_Mutation_p.G54D|HIST2H2BF_ENST00000469483.1_5'UTR|RP11-196G18.21_ENST00000420462.1_RNA	NM_001024599.4	NP_001019770.1	Q5QNW6	H2B2F_HUMAN	histone cluster 2, H2bf	54					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G54D(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)					GGACGAGATGCCGGTGTCGGG	0.597																																						ENST00000427880.2																			2	Substitution - Missense(2)	p.G54D(2)	prostate(2)	breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(160-162)gGc>gAc		histone cluster 2, H2bf							157.0	145.0	149.0					1																	149783718		2203	4297	6500	SO:0001583	missense	440689				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:149783718C>T	BC110793	CCDS30846.1, CCDS53359.1	1q21.2	2013-06-03	2006-10-11		ENSG00000203814	ENSG00000203814		"""Histones / Replication-dependent"""	24700	protein-coding gene	gene with protein product			"""histone 2, H2bf"""				Standard	NM_001161334		Approved		uc010pbj.2	Q5QNW6	OTTHUMG00000183159	ENST00000369167.1:c.161G>A	1.37:g.149783718C>T	ENSP00000358164:p.Gly54Asp					HIST2H2BF_ENST00000369167.1_Missense_Mutation_p.G54D|HIST2H2BF_ENST00000545683.1_Missense_Mutation_p.G54D|HIST2H2BF_ENST00000469483.1_5'UTR	p.G54D			Q5QNW6	H2B2F_HUMAN			1	207	-	Breast(34;0.0124)|all_hematologic(923;0.127)		54					A8K0U9|B4DLA9	Missense_Mutation	SNP	ENST00000369167.1	37	c.161G>A	CCDS30846.1	.	.	.	.	.	.	.	.	.	.	C	30	5.056130	0.93793	.	.	ENSG00000203814	ENST00000545683;ENST00000427880;ENST00000369167	T;T;T	0.69435	-0.4;-0.4;-0.4	3.52	3.52	0.40303	Histone-fold (2);Histone core (1);	0.000000	0.49305	D	0.000147	D	0.86810	0.6022	H	0.98487	4.245	0.53688	D	0.999974	D;D;D	0.89917	1.0;0.999;0.997	D;D;D	0.81914	0.995;0.99;0.964	D	0.91519	0.5233	10	0.87932	D	0	.	14.9173	0.70807	0.0:1.0:0.0:0.0	.	54;54;54	B4DR52;B4DLA9;Q5QNW6	.;.;H2B2F_HUMAN	D	54	ENSP00000445831:G54D;ENSP00000407461:G54D;ENSP00000358164:G54D	ENSP00000358164:G54D	G	-	2	0	HIST2H2BF	148050342	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	6.994000	0.76251	2.283000	0.76528	0.184000	0.17185	GGC		0.597	HIST2H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033453.2	NM_001024599		6	351	0	0	0	1	0	6	351				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	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																																																			0							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		5	57	0	0	0	1	0	5	57				
B3GNT4	79369	broad.mit.edu	37	12	122690955	122690955	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr12:122690955G>A	ENST00000324189.4	+	3	513	c.157G>A	c.(157-159)Gcc>Acc	p.A53T	B3GNT4_ENST00000545141.1_Intron|B3GNT4_ENST00000546192.1_Missense_Mutation_p.A28T|B3GNT4_ENST00000535274.1_Missense_Mutation_p.A28T	NM_030765.2	NP_110392.1	Q9C0J1	B3GN4_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4	53					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)	p.A53T(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		GAGGAAGGCGGCCAAGCCCGC	0.662																																						ENST00000535274.1																			1	Substitution - Missense(1)	p.A53T(1)	prostate(1)	NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(82-84)Gcc>Acc		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4							80.0	85.0	83.0					12																	122690955		2203	4300	6503	SO:0001583	missense	79369				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	g.chr12:122690955G>A	AB049586	CCDS9227.1	12q24	2013-02-19						"""Beta 3-glycosyltransferases"""	15683	protein-coding gene	gene with protein product		605864				11042166	Standard	NM_030765		Approved	B3GN-T4, beta3Gn-T4	uc001ubx.3	Q9C0J1		ENST00000324189.4:c.157G>A	12.37:g.122690955G>A	ENSP00000319636:p.Ala53Thr					B3GNT4_ENST00000324189.4_Missense_Mutation_p.A53T|B3GNT4_ENST00000546192.1_Missense_Mutation_p.A28T|B3GNT4_ENST00000545141.1_Intron	p.A28T			Q9C0J1	B3GN4_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)	1	1809	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		53					Q8N5W4|Q8N934|Q8ND21|Q8WWR5|Q8WY02|Q96QH5	Missense_Mutation	SNP	ENST00000324189.4	37	c.82G>A	CCDS9227.1	.	.	.	.	.	.	.	.	.	.	G	2.644	-0.283515	0.05642	.	.	ENSG00000176383	ENST00000324189;ENST00000546192;ENST00000535274	T;T;T	0.35789	1.41;1.29;1.29	4.78	0.161	0.14977	.	1.534110	0.04093	N	0.311672	T	0.21801	0.0525	N	0.25647	0.755	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.13980	-1.0489	10	0.13108	T	0.6	.	3.027	0.06094	0.1621:0.3695:0.3403:0.1281	.	53	Q9C0J1	B3GN4_HUMAN	T	53;28;28	ENSP00000319636:A53T;ENSP00000438840:A28T;ENSP00000444534:A28T	ENSP00000319636:A53T	A	+	1	0	B3GNT4	121256908	0.019000	0.18553	0.003000	0.11579	0.222000	0.24845	0.240000	0.18042	0.420000	0.25954	0.655000	0.94253	GCC		0.662	B3GNT4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401595.1	NM_030765		4	130	0	0	0	1	0	4	130				
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs2684618	byFrequency	TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	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																																																			0							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		5	70	0	0	0	1	0	5	70				
ZDBF2	57683	broad.mit.edu	37	2	207169502	207169502	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr2:207169502G>T	ENST00000374423.3	+	5	636	c.250G>T	c.(250-252)Gat>Tat	p.D84Y		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	84							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.D84Y(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GCATTTGGATGATGCTTTTTC	0.418																																						ENST00000374423.3																			2	Substitution - Missense(2)	p.D84Y(2)	prostate(2)	endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(250-252)Gat>Tat		zinc finger, DBF-type containing 2							79.0	79.0	79.0					2																	207169502		1983	4165	6148	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207169502G>T	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.250G>T	2.37:g.207169502G>T	ENSP00000363545:p.Asp84Tyr						p.D84Y	NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN			5	636	+			84					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.250G>T	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.591431	0.46214	.	.	ENSG00000204186	ENST00000374423	T	0.17691	2.26	5.05	4.17	0.49024	.	0.893064	0.09257	N	0.827135	T	0.28962	0.0719	L	0.47716	1.5	0.09310	N	1	D	0.71674	0.998	P	0.58520	0.84	T	0.12760	-1.0535	10	0.72032	D	0.01	.	7.3489	0.26678	0.0916:0.1691:0.7393:0.0	.	84	Q9HCK1	ZDBF2_HUMAN	Y	84	ENSP00000363545:D84Y	ENSP00000363545:D84Y	D	+	1	0	ZDBF2	206877747	0.108000	0.22018	0.057000	0.19452	0.001000	0.01503	0.861000	0.27885	1.121000	0.41925	-0.157000	0.13467	GAT		0.418	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		4	121	1	0	0.00024832	1	0.000308519	4	121				
TCF19	6941	broad.mit.edu	37	6	31127393	31127393	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr6:31127393G>T	ENST00000376257.3	+	2	901	c.147G>T	c.(145-147)gaG>gaT	p.E49D	CCHCR1_ENST00000396263.2_5'Flank|CCHCR1_ENST00000451521.2_5'Flank|CCHCR1_ENST00000396268.3_5'Flank|CCHCR1_ENST00000480060.1_5'Flank|CCHCR1_ENST00000376266.5_5'Flank|TCF19_ENST00000376255.4_Missense_Mutation_p.E49D	NM_007109.2	NP_009040.2	Q9Y242	TCF19_HUMAN	transcription factor 19	49	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.				cell proliferation (GO:0008283)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.E49D(1)		kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						CCCAGCAGGAGCCTGGCCTCA	0.662																																						ENST00000376257.3																			1	Substitution - Missense(1)	p.E49D(1)	prostate(1)	kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						c.(145-147)gaG>gaT		transcription factor 19							27.0	32.0	30.0					6																	31127393		1972	4139	6111	SO:0001583	missense	6941				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:31127393G>T	U25826	CCDS43446.1	6p21.3	2013-01-28	2009-02-05		ENSG00000137310	ENSG00000137310		"""Zinc fingers, PHD-type"""	11629	protein-coding gene	gene with protein product		600912				1868030, 8595903	Standard	NM_001077511		Approved	SC1	uc003nss.3	Q9Y242	OTTHUMG00000031274	ENST00000376257.3:c.147G>T	6.37:g.31127393G>T	ENSP00000365433:p.Glu49Asp					TCF19_ENST00000376255.4_Missense_Mutation_p.E49D	p.E49D	NM_007109.2	NP_009040.2	Q9Y242	TCF19_HUMAN			2	901	+			49			FHA.		A6NCT8|B0UY11|Q0EFA8|Q13176|Q15967|Q5SQ89|Q5STD6|Q5STF5|Q9BUM2|Q9UBH7	Missense_Mutation	SNP	ENST00000376257.3	37	c.147G>T	CCDS43446.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.491806	0.84962	.	.	ENSG00000137310	ENST00000376257;ENST00000376255	D;D	0.84589	-1.87;-1.87	5.71	2.94	0.34122	Forkhead-associated (FHA) domain (4);SMAD/FHA domain (1);	0.240514	0.41500	N	0.000869	T	0.52996	0.1769	N	0.12887	0.27	0.38749	D	0.954068	B	0.18310	0.027	B	0.20577	0.03	T	0.45991	-0.9223	10	0.40728	T	0.16	-22.617	5.8164	0.18495	0.1717:0.1588:0.6695:0.0	.	49	Q9Y242	TCF19_HUMAN	D	49	ENSP00000365433:E49D;ENSP00000365431:E49D	ENSP00000365431:E49D	E	+	3	2	TCF19	31235372	1.000000	0.71417	0.992000	0.48379	0.992000	0.81027	0.480000	0.22244	0.329000	0.23460	0.549000	0.68633	GAG		0.662	TCF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076595.2	NM_007109		3	46	1	0	1	1	1	3	46				
MKRN3	7681	broad.mit.edu	37	15	23812105	23812105	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr15:23812105G>T	ENST00000314520.3	+	1	1652	c.1176G>T	c.(1174-1176)aaG>aaT	p.K392N	MKRN3_ENST00000564592.1_Missense_Mutation_p.K152N|RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000568945.1_3'UTR	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	392					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.K392N(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		AGCAATACAAGGAGGCAATGA	0.502																																						ENST00000314520.3																			1	Substitution - Missense(1)	p.K392N(1)	prostate(1)	breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(1174-1176)aaG>aaT		makorin ring finger protein 3							102.0	101.0	101.0					15																	23812105		2203	4300	6503	SO:0001583	missense	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23812105G>T	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.1176G>T	15.37:g.23812105G>T	ENSP00000313881:p.Lys392Asn					MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000568945.1_3'UTR|MKRN3_ENST00000564592.1_Missense_Mutation_p.K152N	p.K392N	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	1	1652	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	392						Missense_Mutation	SNP	ENST00000314520.3	37	c.1176G>T	CCDS10013.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.311801	0.23821	.	.	ENSG00000179455	ENST00000314520	T	0.46451	0.87	4.01	0.117	0.14652	.	0.110120	0.64402	D	0.000013	T	0.55737	0.1939	M	0.85041	2.73	0.54753	D	0.999988	D	0.64830	0.994	P	0.57548	0.823	T	0.56589	-0.7954	10	0.66056	D	0.02	.	7.1947	0.25845	0.4833:0.0:0.5167:0.0	.	392	Q13064	MKRN3_HUMAN	N	392	ENSP00000313881:K392N	ENSP00000313881:K392N	K	+	3	2	MKRN3	21363198	1.000000	0.71417	0.955000	0.39395	0.093000	0.18481	0.971000	0.29396	0.031000	0.15407	-1.202000	0.01658	AAG		0.502	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		7	144	1	0	0.00307968	1	0.00360762	7	144				
TPCN1	53373	broad.mit.edu	37	12	113704096	113704098	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr12:113704096_113704098delCTG	ENST00000335509.6	+	4	663_665	c.349_351delCTG	c.(349-351)ctgdel	p.L122del	TPCN1_ENST00000541517.1_In_Frame_Del_p.L194del|TPCN1_ENST00000392569.4_In_Frame_Del_p.L54del|TPCN1_ENST00000550785.1_In_Frame_Del_p.L194del	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	122					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						GGCCACGGCCCTGCTGCTGCTGC	0.64																																						ENST00000550785.1																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						c.(565-567)del		two pore segment channel 1																																				SO:0001651	inframe_deletion	53373					endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	g.chr12:113704096_113704098delCTG	AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"""Voltage-gated ion channels / Two-pore channels"""	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.349_351delCTG	12.37:g.113704105_113704107delCTG	ENSP00000335300:p.Leu122del					TPCN1_ENST00000335509.6_In_Frame_Del_p.L122del|TPCN1_ENST00000541517.1_In_Frame_Del_p.L194del|TPCN1_ENST00000392569.4_In_Frame_Del_p.L54del	p.L194del	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN			5	734_736	+			122					A7E258|Q86XS9|Q8NC20	In_Frame_Del	DEL	ENST00000335509.6	37	c.565_567delCTG	CCDS31908.1																																																																																				0.640	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	NM_017901		7	576						7	576	---	---	---	---
POLI	11201	broad.mit.edu	37	18	51795958	51795960	+	In_Frame_Del	DEL	CGA	CGA	-	rs78943519|rs10584411|rs3729509	byFrequency	TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr18:51795958_51795960delCGA	ENST00000579534.1	+	1	185_187	c.42_44delCGA	c.(40-45)ggcgac>ggc	p.D17del	POLI_ENST00000406285.3_In_Frame_Del_p.D17del|POLI_ENST00000579434.1_5'UTR|POLI_ENST00000217800.5_5'Flank	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	17					DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)	intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)	p.D17delD(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		AAGGCGGCGGCGACGACGACGAG	0.729								DNA polymerases (catalytic subunits)						3926	0.783946	0.9705	0.6427	5008	,	,		12312	0.7054		0.7078	False		,,,				2504	0.7914					ENST00000579534.1																			1	Deletion - In frame(1)	p.D17delD(1)	large_intestine(1)	breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26						c.(40-45)ggc>gg	DNA polymerases (catalytic subunits)	polymerase (DNA directed) iota				3523,343		1644,235,54						1.5	0.0		dbSNP_119	14	5235,2405		1985,1265,570	no	coding	POLI	NM_007195.2		3629,1500,624	A1A1,A1R,RR		31.4791,8.8722,23.8832				8758,2748				SO:0001651	inframe_deletion	11201				DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding	g.chr18:51795958_51795960delCGA		CCDS11954.2	18q21.1	2012-05-18			ENSG00000101751	ENSG00000101751		"""DNA polymerases"""	9182	protein-coding gene	gene with protein product		605252		RAD3OB, RAD30B		17609217	Standard	NM_007195		Approved		uc002lfj.4	Q9UNA4	OTTHUMG00000132704	ENST00000579534.1:c.42_44delCGA	18.37:g.51795967_51795969delCGA	ENSP00000462664:p.Asp17del					POLI_ENST00000579434.1_5'UTR|POLI_ENST00000406285.3_In_Frame_Del_p.GD14del	p.GD14del	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN		Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)	1	185_187	+			14					Q8N590|Q9H0S1|Q9NYH6	In_Frame_Del	DEL	ENST00000579534.1	37	c.42_44delCGA	CCDS11954.2																																																																																				0.729	POLI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256002.3	NM_007195		3	3						3	3	---	---	---	---
RP13-329D4.3	0	broad.mit.edu	37	20	26113543	26113543	+	lincRNA	DEL	A	A	-	rs375245697		TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr20:26113543delA	ENST00000416563.1	-	0	250																											TCTTTGCCTTAACAACATTAT	0.363																																						ENST00000416563.1																			0																																																			0							g.chr20:26113543delA																													20.37:g.26113543delA														0	250	-									RNA	DEL	ENST00000416563.1	37																																																																																						0.363	RP13-329D4.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000078482.1			4	4						4	4	---	---	---	---
