#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
ZNF675	171392	broad.mit.edu	37	19	23836917	23836917	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr19:23836917G>C	ENST00000359788.4	-	4	986	c.818C>G	c.(817-819)aCa>aGa	p.T273R	ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	273					bone resorption (GO:0045453)|cytokine-mediated signaling pathway (GO:0019221)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TATCTTATGTGTAGTAAGGTG	0.343																																						ENST00000359788.4																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(817-819)aCa>aGa		zinc finger protein 675							59.0	63.0	62.0					19																	23836917		2201	4297	6498	SO:0001583	missense	171392				bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:23836917G>C		CCDS32981.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	30768	protein-coding gene	gene with protein product	"""TRAF6 inhibitory zinc finger"""					11751921	Standard	NM_138330		Approved	TIZ, TBZF	uc002nri.3	Q8TD23		ENST00000359788.4:c.818C>G	19.37:g.23836917G>C	ENSP00000352836:p.Thr273Arg					ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000596211.1_Intron	p.T273R	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN			4	986	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	273					Q8N211	Missense_Mutation	SNP	ENST00000359788.4	37	c.818C>G	CCDS32981.1	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.906828	0.00512	.	.	ENSG00000197372	ENST00000359788	T	0.07567	3.18	0.916	-1.83	0.07833	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01940	0.0061	N	0.00855	-1.145	0.09310	N	1	B	0.17852	0.024	B	0.22152	0.038	T	0.44159	-0.9346	9	0.13108	T	0.6	.	2.5423	0.04729	0.2422:0.0:0.2581:0.4997	.	273	Q8TD23	ZN675_HUMAN	R	273	ENSP00000352836:T273R	ENSP00000352836:T273R	T	-	2	0	ZNF675	23628757	0.000000	0.05858	0.014000	0.15608	0.013000	0.08279	-8.316000	0.00022	-0.849000	0.04158	-0.856000	0.03024	ACA		0.343	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466433.1	NM_138330		3	58	0	0	0	1	0	3	58				
CCL15	6359	broad.mit.edu	37	17	34324881	34324881	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr17:34324881C>A	ENST00000354059.4	-	4	816	c.264G>T	c.(262-264)aaG>aaT	p.K88N	CCL15-CCL14_ENST00000481427.2_Missense_Mutation_p.K88N|CCL14_ENST00000536149.1_De_novo_Start_OutOfFrame	NM_032965.4	NP_116741.1	Q16663	CCL15_HUMAN	chemokine (C-C motif) ligand 15	88					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|immune response (GO:0006955)|positive chemotaxis (GO:0050918)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemoattractant activity (GO:0042056)|chemokine activity (GO:0008009)|heparin binding (GO:0008201)|receptor binding (GO:0005102)			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTTGCCGCCCCTTCTTGGTGA	0.507																																						ENST00000536149.1																			0				large_intestine(1)|lung(6)	7								chemokine (C-C motif) ligand 14							54.0	53.0	53.0					17																	34324881		2203	4300	6503	SO:0001583	missense	6358				cellular calcium ion homeostasis|immune response|positive regulation of cell proliferation	extracellular space	chemokine activity|signal transducer activity	g.chr17:34324881C>A	AF031587	CCDS11304.1	17q11.2	2014-05-06	2002-08-22	2002-08-23	ENSG00000267596	ENSG00000275718		"""Chemokine ligands"", ""Endogenous ligands"""	10613	protein-coding gene	gene with protein product	"""leukotactin 1"", ""CC chemokine 3"", ""macrophage inflammatory protein 5"", ""chemokine CC-2"", ""MIP-1 delta"""	601393	"""small inducible cytokine subfamily A (Cys-Cys), member 15"""	SCYA15		8661057	Standard	NM_032965		Approved	HCC-2, NCC-3, SCYL3, MIP-5, Lkn-1, MIP-1d, HMRP-2B	uc010wcu.2	Q16663	OTTHUMG00000188406	ENST00000354059.4:c.264G>T	17.37:g.34324881C>A	ENSP00000293276:p.Lys88Asn					CCL15-CCL14_ENST00000481427.2_Missense_Mutation_p.K88N|CCL15_ENST00000354059.4_Missense_Mutation_p.K88N				Q16627	CCL14_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	0	832	-		Ovarian(249;0.17)						B2RU34|E1P651|Q9UM74	Translation_Start_Site	SNP	ENST00000354059.4	37		CCDS11304.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.69|14.69	2.610942|2.610942	0.46631|0.46631	.|.	.|.	ENSG00000161574|ENSG00000161574	ENST00000354059|ENST00000394506	T|.	0.05382|.	3.45|.	4.72|4.72	-6.98|-6.98	0.01611|0.01611	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);|.	0.796847|.	0.10653|.	N|.	0.649640|.	T|T	0.31071|0.31071	0.0785|0.0785	L|L	0.52823|0.52823	1.66|1.66	0.09310|0.09310	N|N	1|1	B|.	0.29481|.	0.245|.	B|.	0.35039|.	0.194|.	T|T	0.36480|0.36480	-0.9746|-0.9746	10|5	0.54805|.	T|.	0.06|.	.|.	0.9572|0.9572	0.01388|0.01388	0.3366:0.1609:0.1108:0.3916|0.3366:0.1609:0.1108:0.3916	.|.	88|.	Q16663|.	CCL15_HUMAN|.	N|M	88|36	ENSP00000293276:K88N|.	ENSP00000293276:K88N|.	K|R	-|-	3|2	2|0	CCL15|CCL15	31348994|31348994	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.038000|0.038000	0.13279|0.13279	-1.099000|-1.099000	0.03343|0.03343	-1.254000|-1.254000	0.02485|0.02485	0.591000|0.591000	0.81541|0.81541	AAG|AGG		0.507	CCL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256584.2	NM_004167		13	32	1	0	9.31168e-06	1	9.829e-06	13	32				
PKD1L2	114780	broad.mit.edu	37	16	81249856	81249856	+	RNA	SNP	C	C	T	rs369884548		TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr16:81249856C>T	ENST00000525539.1	-	0	456				PKD1L2_ENST00000337114.4_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TCACGGAACTCGCACATGAAG	0.677																																						ENST00000599697.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(457-459)Gag>Aag		polycystic kidney disease 1-like 2		C	LYS/GLU,LYS/GLU	0,4204		0,0,2102	58.0	74.0	69.0		457,457	5.1	1.0	16		69	1,8441		0,1,4220	no	missense,missense	PKD1L2	NM_001076780.1,NM_052892.3	56,56	0,1,6322	TT,TC,CC		0.0118,0.0,0.0079	probably-damaging,probably-damaging	153/992,153/2460	81249856	1,12645	2102	4221	6323			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81249856C>T	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81249856C>T						PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000337114.4_RNA	p.E153K			Q7Z442	PK1L2_HUMAN			2	456	-			153			C-type lectin.		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000525539.1	37	c.457G>A		.	.	.	.	.	.	.	.	.	.	C	16.21	3.059537	0.55325	0.0	1.18E-4	ENSG00000166473	ENST00000337114	T	0.19806	2.12	5.09	5.09	0.68999	C-type lectin fold (1);C-type lectin (3);	0.222729	0.38058	N	0.001833	T	0.31071	0.0785	.	.	.	0.27333	N	0.956723	D;D	0.65815	0.995;0.959	P;B	0.51297	0.665;0.408	T	0.11767	-1.0574	9	0.49607	T	0.09	-11.2351	14.2226	0.65839	0.0:0.8509:0.1491:0.0	.	153;153	Q7Z442-3;Q7Z442	.;PK1L2_HUMAN	K	153	ENSP00000337397:E153K	ENSP00000337397:E153K	E	-	1	0	PKD1L2	79807357	0.988000	0.35896	1.000000	0.80357	0.047000	0.14425	0.790000	0.26900	2.391000	0.81399	0.650000	0.86243	GAG		0.677	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			15	35	0	0	0	1	0	15	35				
AMPD1	270	broad.mit.edu	37	1	115222328	115222328	+	Splice_Site	SNP	T	T	C			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr1:115222328T>C	ENST00000520113.2	-	7	883	c.868A>G	c.(868-870)Aag>Gag	p.K290E	AMPD1_ENST00000353928.6_Splice_Site_p.K257E|AMPD1_ENST00000369538.3_Splice_Site_p.K286E			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	290					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	GTATAGGTCTTACTGTGAAAA	0.398																																						ENST00000369538.3																			0				NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45						c.e6-1		adenosine monophosphate deaminase 1	Adenosine monophosphate(DB00131)						81.0	88.0	85.0					1																	115222328		2203	4300	6503	SO:0001630	splice_region_variant	270				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:115222328T>C	M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"""AMPD isoform M"", ""skeletal muscle AMPD"""	102770	"""adenosine monophosphate deaminase 1 (isoform M)"""			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.867-1A>G	1.37:g.115222328T>C						AMPD1_ENST00000353928.6_Splice_Site_p.K257_splice|AMPD1_ENST00000520113.2_Splice_Site_p.K290_splice	p.K286_splice	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	6	903	-	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	257					A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Splice_Site	SNP	ENST00000520113.2	37	c.854_splice	CCDS876.2	.	.	.	.	.	.	.	.	.	.	T	33	5.238876	0.95240	.	.	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	D;D;D	0.85556	-2.0;-2.0;-2.0	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.92825	0.7718	M	0.89968	3.075	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.77557	0.99;0.987	D	0.94220	0.7466	10	0.87932	D	0	-25.1626	16.1485	0.81594	0.0:0.0:0.0:1.0	.	286;257	Q5TF02;P23109	.;AMPD1_HUMAN	E	290;286;257	ENSP00000430075:K290E;ENSP00000358551:K286E;ENSP00000316520:K257E	ENSP00000316520:K257E	K	-	1	0	AMPD1	115023851	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.997000	0.88414	2.281000	0.76405	0.533000	0.62120	AAG		0.398	AMPD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032860.4		Missense_Mutation	32	64	0	0	0	1	0	32	64				
GMPPB	29925	broad.mit.edu	37	3	49756032	49756032	+	3'UTR	SNP	G	G	A	rs371379790		TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr3:49756032G>A	ENST00000480687.1	-	0	4352				RNF123_ENST00000497099.1_3'UTR|RNF123_ENST00000327697.6_Intron|AMIGO3_ENST00000535833.1_Silent_p.Y289Y|RNF123_ENST00000433785.1_Intron|AMIGO3_ENST00000320431.7_Silent_p.Y289Y			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B						cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|mannose-1-phosphate guanylyltransferase activity (GO:0004475)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCACCAGCGCGTACAGGTGCT	0.662																																						ENST00000535833.1																			0				endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5						c.(865-867)taC>taT		adhesion molecule with Ig-like domain 3							29.0	28.0	28.0					3																	49756032		2201	4299	6500	SO:0001624	3_prime_UTR_variant	386724				heterophilic cell-cell adhesion	integral to membrane		g.chr3:49756032G>A	AF135421	CCDS2802.1, CCDS2803.1	3p21.31	2008-02-05			ENSG00000173540	ENSG00000173540	2.7.7.22		22932	protein-coding gene	gene with protein product		615320					Standard	NM_013334		Approved	KIAA1851	uc003cxl.1	Q9Y5P6	OTTHUMG00000158151	ENST00000480687.1:c.*3153C>T	3.37:g.49756032G>A						GMPPB_ENST00000480687.1_3'UTR|RNF123_ENST00000433785.1_Intron|RNF123_ENST00000327697.6_Intron|AMIGO3_ENST00000320431.7_Silent_p.Y289Y|RNF123_ENST00000497099.1_3'UTR	p.Y289Y			Q86WK7	AMGO3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	10	4317	-			289			Ig-like C2-type.		A8K6N5|Q9H7U3	Silent	SNP	ENST00000480687.1	37	c.867C>T	CCDS2803.1																																																																																				0.662	GMPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350291.1	NM_013334		11	16	0	0	0	1	0	11	16				
APC	324	broad.mit.edu	37	5	112175490	112175490	+	Nonsense_Mutation	SNP	C	C	A	rs267600319		TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr5:112175490C>A	ENST00000457016.1	+	16	4579	c.4199C>A	c.(4198-4200)tCg>tAg	p.S1400*	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Nonsense_Mutation_p.S1400*|APC_ENST00000257430.4_Nonsense_Mutation_p.S1400*			P25054	APC_HUMAN	adenomatous polyposis coli	1400	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.S1400*(6)|p.S1400fs*1(6)|p.Y1376fs*41(1)|p.?(1)|p.S1400L(1)|p.K1192fs*3(1)|p.S1400fs*5(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GAGAGTCGTTCGATTGCCAGC	0.478		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"""D, Mis, N, F, S"""	adenomatous polyposis of the colon gene			"""E, M, O"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""		17	Deletion - Frameshift(9)|Substitution - Nonsense(6)|Unknown(1)|Substitution - Missense(1)	p.S1400*(6)|p.S1400fs*1(6)|p.Y1376fs*41(1)|p.?(1)|p.S1400L(1)|p.K1192fs*3(1)|p.S1400fs*5(1)	large_intestine(15)|soft_tissue(1)|skin(1)	NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261	GRCh37	CM995167	APC	M		c.(4198-4200)tCg>tAg		adenomatous polyposis coli							109.0	102.0	104.0					5																	112175490		2202	4300	6502	SO:0001587	stop_gained	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112175490C>A	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4199C>A	5.37:g.112175490C>A	ENSP00000413133:p.Ser1400*	TSP Lung(16;0.13)				APC_ENST00000257430.4_Nonsense_Mutation_p.S1400*|APC_ENST00000508376.2_Nonsense_Mutation_p.S1400*|CTC-554D6.1_ENST00000520401.1_Intron	p.S1400*			P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	4579	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	1400			Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	c.4199C>A	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	41	8.600887	0.98879	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.695	20.4898	0.99202	0.0:1.0:0.0:0.0	.	.	.	.	X	1400	.	.	S	+	2	0	APC	112203389	1.000000	0.71417	0.721000	0.30653	0.765000	0.43378	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	TCG		0.478	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		7	45	1	0	5.18039e-06	1	5.57136e-06	7	45				
CROCCP2	84809	broad.mit.edu	37	1	16959603	16959603	+	lincRNA	SNP	G	G	A			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr1:16959603G>A	ENST00000412962.1	-	0	74							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CTGCAGTGACGCCTGCCTCAT	0.602																																						ENST00000412962.1																			0																																																			0							g.chr1:16959603G>A	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16959603G>A														0	74	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.602	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		5	23	0	0	0	1	0	5	23				
HTATSF1	27336	broad.mit.edu	37	X	135593232	135593232	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chrX:135593232G>A	ENST00000218364.4	+	9	1502	c.1328G>A	c.(1327-1329)gGt>gAt	p.G443D	HTATSF1_ENST00000535601.1_Missense_Mutation_p.G443D	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	443	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					TTTGAAGAAGGTGCTTCTGAA	0.428																																						ENST00000535601.1																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30						c.(1327-1329)gGt>gAt		HIV-1 Tat specific factor 1							91.0	101.0	97.0					X																	135593232		2202	4299	6501	SO:0001583	missense	27336				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding	g.chrX:135593232G>A	U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"""RNA binding motif (RRM) containing"""	5276	protein-coding gene	gene with protein product		300346	"""HIV TAT specific factor 1"""			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.1328G>A	X.37:g.135593232G>A	ENSP00000218364:p.Gly443Asp					HTATSF1_ENST00000218364.4_Missense_Mutation_p.G443D	p.G443D	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN			10	1750	+	Acute lymphoblastic leukemia(192;0.000127)		443			Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.		D3DWG9|Q59G06|Q99730	Missense_Mutation	SNP	ENST00000218364.4	37	c.1328G>A	CCDS14657.1	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.459679	0.01062	.	.	ENSG00000102241	ENST00000535601;ENST00000218364;ENST00000415377	T;T	0.19669	2.13;2.13	5.49	-3.36	0.04913	.	1.339880	0.04254	N	0.339135	T	0.06872	0.0175	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31806	-0.9930	10	0.08179	T	0.78	-1.0468	6.1437	0.20273	0.4184:0.2494:0.3322:0.0	.	443	O43719	HTSF1_HUMAN	D	443	ENSP00000442699:G443D;ENSP00000218364:G443D	ENSP00000218364:G443D	G	+	2	0	HTATSF1	135420898	0.001000	0.12720	0.048000	0.18961	0.705000	0.40729	0.220000	0.17660	-0.580000	0.05944	-0.529000	0.04317	GGT		0.428	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058497.1	NM_014500		3	53	0	0	0	1	0	3	53				
ZNF676	163223	broad.mit.edu	37	19	22363081	22363081	+	Missense_Mutation	SNP	C	C	T	rs201042215		TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr19:22363081C>T	ENST00000397121.2	-	3	1755	c.1438G>A	c.(1438-1440)Gaa>Aaa	p.E480K		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	480					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CCACATTCTTCACATTTGTAA	0.393																																						ENST00000397121.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67						c.(1438-1440)Gaa>Aaa		zinc finger protein 676							96.0	102.0	100.0					19																	22363081		2158	4274	6432	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22363081C>T	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1438G>A	19.37:g.22363081C>T	ENSP00000380310:p.Glu480Lys						p.E480K	NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN			3	1755	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	480					A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.1438G>A	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	3.380	-0.126591	0.06795	.	.	ENSG00000196109	ENST00000397121	T	0.16597	2.33	0.81	-0.534	0.11883	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10723	0.0262	N	0.02665	-0.54	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.20338	-1.0278	9	0.14252	T	0.57	.	0.1503	0.00092	0.2521:0.2552:0.2506:0.2421	.	480	Q8N7Q3	ZN676_HUMAN	K	480	ENSP00000380310:E480K	ENSP00000380310:E480K	E	-	1	0	ZNF676	22154921	0.000000	0.05858	0.078000	0.20375	0.078000	0.17371	-3.316000	0.00515	0.181000	0.19994	0.184000	0.17185	GAA		0.393	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		26	61	0	0	0	1	0	26	61				
ARID3B	10620	broad.mit.edu	37	15	74883672	74883672	+	Silent	SNP	T	T	C	rs199931788		TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr15:74883672T>C	ENST00000346246.5	+	6	1293	c.1062T>C	c.(1060-1062)ctT>ctC	p.L354L		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	354	Interaction with RB1.					nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)	p.L354L(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						CCCCTGCCCTTCTCTCCCCAC	0.647																																						ENST00000346246.5																			1	Substitution - coding silent(1)	p.L354L(1)	lung(1)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						c.(1060-1062)ctT>ctC		AT rich interactive domain 3B (BRIGHT-like)							48.0	57.0	54.0					15																	74883672		2197	4295	6492	SO:0001819	synonymous_variant	10620				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr15:74883672T>C		CCDS10264.1	15q24	2013-02-07	2006-11-08		ENSG00000179361	ENSG00000179361		"""-"""	14350	protein-coding gene	gene with protein product		612457	"""AT rich interactive domain 3B (BRIGHT- like)"""				Standard	NM_006465		Approved	BDP, DRIL2	uc002ayd.3	Q8IVW6	OTTHUMG00000141321	ENST00000346246.5:c.1062T>C	15.37:g.74883672T>C							p.L354L	NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN			6	1293	+			354			Interaction with RB1.		O95443|Q59HC9|Q6P9C9	Silent	SNP	ENST00000346246.5	37	c.1062T>C	CCDS10264.1																																																																																				0.647	ARID3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280688.2	NM_006465		5	96	0	0	0	1	0	5	96				
TNNI1	7135	broad.mit.edu	37	1	201380592	201380592	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr1:201380592G>A	ENST00000361379.4	-	7	441	c.349C>T	c.(349-351)Cgt>Tgt	p.R117C	TNNI1_ENST00000336092.4_Missense_Mutation_p.R117C|TNNI1_ENST00000367312.1_Missense_Mutation_p.R117C|TNNI1_ENST00000555948.1_Intron	NM_003281.3	NP_003272.3	P19237	TNNI1_HUMAN	troponin I type 1 (skeletal, slow)	117	Involved in binding TNC and actin.				muscle filament sliding (GO:0030049)|regulation of striated muscle contraction (GO:0006942)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|troponin complex (GO:0005861)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	8						GCCGAGACACGGACTCGACGC	0.617																																						ENST00000361379.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	8						c.(349-351)Cgt>Tgt		troponin I type 1 (skeletal, slow)							62.0	58.0	60.0					1																	201380592		2203	4300	6503	SO:0001583	missense	7135				muscle filament sliding|regulation of striated muscle contraction	cytosol|troponin complex	actin binding|tropomyosin binding	g.chr1:201380592G>A	BC012600	CCDS1411.1	1q31.3	2008-02-05	2005-09-12		ENSG00000159173	ENSG00000159173			11945	protein-coding gene	gene with protein product		191042	"""troponin I, skeletal, slow"""			2365354, 8144655	Standard	NM_003281		Approved		uc021phd.1	P19237	OTTHUMG00000035736	ENST00000361379.4:c.349C>T	1.37:g.201380592G>A	ENSP00000354488:p.Arg117Cys					TNNI1_ENST00000555948.1_Intron|TNNI1_ENST00000336092.4_Missense_Mutation_p.R117C|TNNI1_ENST00000367312.1_Missense_Mutation_p.R117C	p.R117C	NM_003281.3	NP_003272.3	P19237	TNNI1_HUMAN			7	441	-			117			Involved in binding TNC and actin.		A6NEH3|A8MSJ0|Q659A5|Q6FGS7|Q6FGW1|Q6ICU2|Q86T57|Q96DT9	Missense_Mutation	SNP	ENST00000361379.4	37	c.349C>T	CCDS1411.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.016081	0.75161	.	.	ENSG00000159173	ENST00000358712;ENST00000361379;ENST00000336092;ENST00000413495;ENST00000367312;ENST00000555340;ENST00000556362	D;D;D;D;D	0.94280	-3.39;-3.39;-3.39;-3.39;-3.39	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	D	0.97288	0.9113	M	0.90705	3.14	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98402	1.0568	10	0.87932	D	0	-11.663	17.5629	0.87912	0.0:0.0:1.0:0.0	.	117	P19237	TNNI1_HUMAN	C	117;117;117;117;117;96;117	ENSP00000354488:R117C;ENSP00000337022:R117C;ENSP00000356281:R117C;ENSP00000451660:R96C;ENSP00000451776:R117C	ENSP00000337022:R117C	R	-	1	0	TNNI1	199647215	1.000000	0.71417	0.994000	0.49952	0.983000	0.72400	3.661000	0.54503	2.141000	0.66446	0.561000	0.74099	CGT		0.617	TNNI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087001.1	NM_003281		12	13	0	0	0	1	0	12	13				
RIN2	54453	broad.mit.edu	37	20	19956216	19956216	+	Missense_Mutation	SNP	G	G	A	rs369408237		TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr20:19956216G>A	ENST00000255006.6	+	8	1843	c.1694G>A	c.(1693-1695)cGc>cAc	p.R565H	RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Intron	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	516					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						CGGATGGTCCGCAGGATCGCC	0.602																																						ENST00000255006.6																			0				autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						c.(1693-1695)cGc>cAc		Ras and Rab interactor 2		G	HIS/ARG,HIS/ARG	1,4053		0,1,2026	80.0	88.0	85.0		1547,1694	4.9	0.9	20		85	0,8354		0,0,4177	no	missense,missense	RIN2	NM_018993.3,NM_001242581.1	29,29	0,1,6203	AA,AG,GG		0.0,0.0247,0.0081	benign,benign	516/896,565/945	19956216	1,12407	2027	4177	6204	SO:0001583	missense	54453				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr20:19956216G>A	AB060339	CCDS56182.1	20p11.22	2008-07-30			ENSG00000132669	ENSG00000132669			18750	protein-coding gene	gene with protein product		610222				11733506, 1849280, 16423831	Standard	NM_018993		Approved	RASSF4	uc002wro.2	Q8WYP3	OTTHUMG00000031996	ENST00000255006.6:c.1694G>A	20.37:g.19956216G>A	ENSP00000255006:p.Arg565His					RIN2_ENST00000440354.2_Intron|RIN2_ENST00000484638.1_3'UTR	p.R565H	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN			8	1843	+			516					Q00425|Q5TFT8|Q9BQL3|Q9H071	Missense_Mutation	SNP	ENST00000255006.6	37	c.1694G>A	CCDS56182.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.651048	0.29336	2.47E-4	0.0	ENSG00000132669	ENST00000255006	T	0.09163	3.01	5.94	4.91	0.64330	.	0.706455	0.12252	N	0.485559	T	0.08935	0.0221	L	0.46157	1.445	0.32405	N	0.551468	B	0.26041	0.14	B	0.14023	0.01	T	0.08785	-1.0705	9	.	.	.	-20.5401	4.2184	0.10545	0.3024:0.0:0.6976:0.0	.	516	Q8WYP3	RIN2_HUMAN	H	565	ENSP00000255006:R565H	.	R	+	2	0	RIN2	19904216	0.516000	0.26218	0.910000	0.35882	0.508000	0.34012	2.957000	0.49137	2.821000	0.97095	0.655000	0.94253	CGC		0.602	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078212.1			4	95	0	0	0	1	0	4	95				
MID1	4281	broad.mit.edu	37	X	10417583	10417583	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chrX:10417583T>C	ENST00000317552.4	-	10	2229	c.1829A>G	c.(1828-1830)tAt>tGt	p.Y610C	MID1_ENST00000380779.1_Missense_Mutation_p.Y610C|MID1_ENST00000380780.1_Missense_Mutation_p.Y610C|MID1_ENST00000479925.1_5'UTR|MID1_ENST00000453318.2_Missense_Mutation_p.Y610C|MID1_ENST00000380782.2_3'UTR|MID1_ENST00000380785.1_Missense_Mutation_p.Y610C|MID1_ENST00000380787.1_Missense_Mutation_p.Y610C	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	610	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				microtubule cytoskeleton organization (GO:0000226)|negative regulation of microtubule depolymerization (GO:0007026)|pattern specification process (GO:0007389)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein localization to microtubule (GO:0035372)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						GCCGTTATCATAGTCCAGCAG	0.557																																						ENST00000317552.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.(1828-1830)tAt>tGt		midline 1 (Opitz/BBB syndrome)							125.0	94.0	105.0					X																	10417583		2203	4300	6503	SO:0001583	missense	0				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding	g.chrX:10417583T>C	Y13667	CCDS14138.1, CCDS75952.1, CCDS75953.1	Xp22	2014-06-18	2014-06-18		ENSG00000101871	ENSG00000101871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7095	protein-coding gene	gene with protein product	"""Opitz/BBB syndrome"""	300552				9354791, 9425238	Standard	NM_001098624		Approved	OS, FXY, TRIM18, RNF59	uc004cti.4	O15344	OTTHUMG00000021127	ENST00000317552.4:c.1829A>G	X.37:g.10417583T>C	ENSP00000312678:p.Tyr610Cys					MID1_ENST00000380779.1_Missense_Mutation_p.Y610C|MID1_ENST00000380780.1_Missense_Mutation_p.Y610C|MID1_ENST00000380782.2_3'UTR|MID1_ENST00000380785.1_Missense_Mutation_p.Y610C|MID1_ENST00000479925.1_5'UTR|MID1_ENST00000380787.1_Missense_Mutation_p.Y610C|MID1_ENST00000453318.2_Missense_Mutation_p.Y610C	p.Y610C	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN			10	2229	-			610			B30.2/SPRY.		B2RCG2|O75361|Q9BZX5	Missense_Mutation	SNP	ENST00000317552.4	37	c.1829A>G	CCDS14138.1	.	.	.	.	.	.	.	.	.	.	T	17.76	3.468139	0.63625	.	.	ENSG00000101871	ENST00000453318;ENST00000317552;ENST00000380785;ENST00000380779;ENST00000380787;ENST00000380780;ENST00000454373	T;T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1;-0.1	5.5	5.5	0.81552	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	T	0.68796	0.3040	L	0.52573	1.65	0.80722	D	1	P;P;P	0.40066	0.701;0.569;0.557	P;P;P	0.53912	0.737;0.599;0.617	T	0.63739	-0.6569	10	0.18276	T	0.48	.	14.7167	0.69275	0.0:0.0:0.0:1.0	.	610;610;560	A8K5A0;O15344;B4DLX8	.;TRI18_HUMAN;.	C	610;610;610;610;610;610;560	ENSP00000414521:Y610C;ENSP00000312678:Y610C;ENSP00000370162:Y610C;ENSP00000370156:Y610C;ENSP00000370164:Y610C;ENSP00000370157:Y610C	ENSP00000312678:Y610C	Y	-	2	0	MID1	10377583	1.000000	0.71417	0.977000	0.42913	0.785000	0.44390	7.538000	0.82048	1.857000	0.53885	0.345000	0.21793	TAT		0.557	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055738.1			29	15	0	0	0	1	0	29	15				
CCDC36	339834	broad.mit.edu	37	3	49294572	49294572	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr3:49294572T>C	ENST00000438782.1	+	8	1878	c.1642T>C	c.(1642-1644)Tcc>Ccc	p.S548P	RP11-3B7.1_ENST00000440528.3_5'Flank|CCDC36_ENST00000296449.5_Missense_Mutation_p.S548P|CCDC36_ENST00000452691.2_Missense_Mutation_p.S548P			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	548										endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		CTGGCTACTTTCCAGCAGTTC	0.522																																						ENST00000438782.1																			0				endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14						c.(1642-1644)Tcc>Ccc		coiled-coil domain containing 36							73.0	77.0	76.0					3																	49294572		2203	4300	6503	SO:0001583	missense	339834							g.chr3:49294572T>C	AK058049	CCDS33755.2	3p21.31	2009-08-06			ENSG00000173421	ENSG00000173421			27945	protein-coding gene	gene with protein product	"""cancer/testis antigen 74"""						Standard	NM_178173		Approved	FLJ25320, CT74	uc011bck.1	Q8IYA8	OTTHUMG00000155920	ENST00000438782.1:c.1642T>C	3.37:g.49294572T>C	ENSP00000391788:p.Ser548Pro					CCDC36_ENST00000452691.2_Missense_Mutation_p.S548P|CCDC36_ENST00000296449.5_Missense_Mutation_p.S548P	p.S548P			Q8IYA8	CCD36_HUMAN		BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)	8	1878	+			548					C9JJL0|Q05DG9|Q96LP7	Missense_Mutation	SNP	ENST00000438782.1	37	c.1642T>C	CCDS33755.2	.	.	.	.	.	.	.	.	.	.	T	18.62	3.663147	0.67700	.	.	ENSG00000173421	ENST00000296449;ENST00000438782;ENST00000452691;ENST00000309062	T;T;T	0.47869	0.83;0.83;0.83	3.97	3.97	0.46021	.	0.644830	0.13419	N	0.389303	T	0.46580	0.1400	N	0.17082	0.46	0.30646	N	0.755939	D	0.69078	0.997	D	0.63793	0.918	T	0.37056	-0.9722	10	0.27785	T	0.31	-2.83	9.4429	0.38679	0.0:0.0:0.0:1.0	.	548	Q8IYA8	CCD36_HUMAN	P	548;548;548;528	ENSP00000296449:S548P;ENSP00000391788:S548P;ENSP00000407837:S548P	ENSP00000296449:S548P	S	+	1	0	CCDC36	49269576	0.018000	0.18449	0.011000	0.14972	0.937000	0.57800	0.206000	0.17375	1.791000	0.52520	0.459000	0.35465	TCC		0.522	CCDC36-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342332.1	NM_178173		26	42	0	0	0	1	0	26	42				
EIF4H	7458	broad.mit.edu	37	7	73588718	73588718	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr7:73588718C>T	ENST00000265753.8	+	1	144	c.5C>T	c.(4-6)gCg>gTg	p.A2V	EIF4H_ENST00000353999.6_Missense_Mutation_p.A2V	NM_022170.1	NP_071496.1	Q15056	IF4H_HUMAN	eukaryotic translation initiation factor 4H	2					cellular protein metabolic process (GO:0044267)|developmental growth (GO:0048589)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|sexual reproduction (GO:0019953)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(1)|lung(2)|prostate(1)	4						CGGCAAATGGCGGACTTCGAC	0.741																																						ENST00000265753.8																			0				endometrium(1)|lung(2)|prostate(1)	4						c.(4-6)gCg>gTg		eukaryotic translation initiation factor 4H							24.0	23.0	23.0					7																	73588718		2203	4300	6503	SO:0001583	missense	7458				interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity	g.chr7:73588718C>T		CCDS5564.1, CCDS5565.1	7q11.23	2013-02-12	2006-11-27	2006-11-27	ENSG00000106682	ENSG00000106682		"""RNA binding motif (RRM) containing"""	12741	protein-coding gene	gene with protein product		603431	"""Williams-Beuren syndrome chromosome region 1"""	WBSCR1		9516461, 15078951	Standard	NM_022170		Approved	WSCR1, KIAA0038	uc003uad.1	Q15056	OTTHUMG00000023025	ENST00000265753.8:c.5C>T	7.37:g.73588718C>T	ENSP00000265753:p.Ala2Val					EIF4H_ENST00000353999.6_Missense_Mutation_p.A2V	p.A2V	NM_022170.1	NP_071496.1	Q15056	IF4H_HUMAN			1	144	+			2					A8K3R1|D3DXF6|D3DXF8	Missense_Mutation	SNP	ENST00000265753.8	37	c.5C>T	CCDS5564.1	.	.	.	.	.	.	.	.	.	.	C	34	5.410976	0.96072	.	.	ENSG00000106682	ENST00000265753;ENST00000353999	T;T	0.38722	1.12;1.35	4.09	4.09	0.47781	.	0.256239	0.32703	U	0.005756	T	0.61874	0.2382	M	0.65975	2.015	0.80722	D	1	D;D;D;D	0.89917	0.996;1.0;0.998;0.996	P;D;P;D	0.76071	0.75;0.987;0.873;0.939	T	0.66352	-0.5945	10	0.59425	D	0.04	0.1031	15.1997	0.73126	0.0:1.0:0.0:0.0	.	2;2;2;2	B4DMV6;Q75MU2;Q15056-2;Q15056	.;.;.;IF4H_HUMAN	V	2	ENSP00000265753:A2V;ENSP00000265754:A2V	ENSP00000265753:A2V	A	+	2	0	EIF4H	73226654	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.551000	0.53698	1.978000	0.57642	0.462000	0.41574	GCG		0.741	EIF4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252375.2	NM_022170		6	14	0	0	0	1	0	6	14				
DPY19L2P2	349152	broad.mit.edu	37	7	102825947	102825947	+	RNA	SNP	A	A	G			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr7:102825947A>G	ENST00000312132.4	-	0	3750							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										ACAGCTTGACACTTGCCATTG	0.373																																						ENST00000312132.4																			0																																																			0							g.chr7:102825947A>G	AL834175		7q22.1	2013-09-12	2013-09-12		ENSG00000170629	ENSG00000170629			21764	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 2 (C. elegans)"""				Standard	NR_027768		Approved	DKFZp434E092, FLJ36166	uc003vbh.4	Q6ZN68	OTTHUMG00000157200		7.37:g.102825947A>G														0	3750	-								Q8N9V4|Q8ND62	RNA	SNP	ENST00000312132.4	37																																																																																						0.373	DPY19L2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347877.1	NM_182634		4	99	0	0	0	1	0	4	99				
FANCD2	2177	broad.mit.edu	37	3	10128872	10128872	+	Nonsense_Mutation	SNP	T	T	A			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr3:10128872T>A	ENST00000419585.1	+	34	3551	c.3390T>A	c.(3388-3390)tgT>tgA	p.C1130*	FANCD2_ENST00000383807.1_Nonsense_Mutation_p.C1130*|FANCD2OS_ENST00000436517.1_5'UTR|FANCD2_ENST00000383806.1_Nonsense_Mutation_p.C1130*|FANCD2OS_ENST00000524279.1_Intron|FANCD2_ENST00000287647.3_Nonsense_Mutation_p.C1130*			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1130					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GTTTCCAGTGTGCTCTTTATC	0.378			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000287647.3			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""D, Mis, N, F"""	"""Fanconi anemia, complementation group D2"""			L		"""AML, leukemia"""			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51						c.(3388-3390)tgT>tgA	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group D2							200.0	196.0	197.0					3																	10128872		2203	4300	6503	SO:0001587	stop_gained	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10128872T>A	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.3390T>A	3.37:g.10128872T>A	ENSP00000398754:p.Cys1130*					FANCD2OS_ENST00000436517.1_5'UTR|FANCD2OS_ENST00000524279.1_Intron|FANCD2_ENST00000383807.1_Nonsense_Mutation_p.C1130*|FANCD2_ENST00000419585.1_Nonsense_Mutation_p.C1130*|FANCD2_ENST00000383806.1_Nonsense_Mutation_p.C1130*	p.C1130*	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	34	3483	+			1130					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Nonsense_Mutation	SNP	ENST00000419585.1	37	c.3390T>A	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	T	42	9.335017	0.99140	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	.	.	.	5.54	5.54	0.83059	.	0.203832	0.51477	D	0.000095	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.1371	0.53977	0.0:0.0:0.0:1.0	.	.	.	.	X	1130	.	ENSP00000287647:C1130X	C	+	3	2	FANCD2	10103872	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.392000	0.20801	2.117000	0.64856	0.529000	0.55759	TGT		0.378	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			19	56	0	0	0	1	0	19	56				
DCLRE1C	64421	broad.mit.edu	37	10	14995921	14995921	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr10:14995921A>G	ENST00000378278.2	-	1	126	c.89T>C	c.(88-90)tTc>tCc	p.F30S	DCLRE1C_ENST00000378249.1_5'UTR|DCLRE1C_ENST00000378258.1_5'UTR|DCLRE1C_ENST00000378254.1_5'UTR|DCLRE1C_ENST00000378289.4_Missense_Mutation_p.F30S|DCLRE1C_ENST00000378246.2_5'UTR|DCLRE1C_ENST00000357717.2_5'UTR|DCLRE1C_ENST00000453695.2_5'UTR|DCLRE1C_ENST00000396817.2_5'UTR|DCLRE1C_ENST00000378255.1_5'UTR			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	30					B cell differentiation (GO:0030183)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)|telomere maintenance (GO:0000723)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						GTGGGACAGGAAGTAGGCGCG	0.652								Non-homologous end-joining																														ENST00000378289.4																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						c.(88-90)tTc>tCc	Non-homologous end-joining	DNA cross-link repair 1C							56.0	60.0	58.0					10																	14995921		2203	4300	6503	SO:0001583	missense	64421				DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity	g.chr10:14995921A>G	BC022254	CCDS7105.1, CCDS31149.1, CCDS31150.1	10p13	2014-09-17	2010-06-24		ENSG00000152457	ENSG00000152457			17642	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	605988	"""severe combined immunodeficiency, type a (Athabascan)"", ""DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)"""	SCIDA		11336668, 9443881	Standard	XM_005252558		Approved	ARTEMIS, FLJ11360, SNM1C, A-SCID	uc001inn.3	Q96SD1	OTTHUMG00000017716	ENST00000378278.2:c.89T>C	10.37:g.14995921A>G	ENSP00000367527:p.Phe30Ser					DCLRE1C_ENST00000378254.1_5'UTR|DCLRE1C_ENST00000378278.2_Missense_Mutation_p.F30S|DCLRE1C_ENST00000378249.1_5'UTR|DCLRE1C_ENST00000357717.2_5'UTR|DCLRE1C_ENST00000453695.2_5'UTR|DCLRE1C_ENST00000378246.2_5'UTR|DCLRE1C_ENST00000396817.2_5'UTR|DCLRE1C_ENST00000378258.1_5'UTR|DCLRE1C_ENST00000378255.1_5'UTR	p.F30S			Q96SD1	DCR1C_HUMAN			1	510	-			30					D3DRT6|Q1HCL2|Q5JSR4|Q5JSR5|Q5JSR7|Q5JSR8|Q5JSR9|Q5JSS0|Q5JSS7|Q6PK14|Q8N101|Q8N132|Q8TBW9|Q9BVW9|Q9HAM4	Missense_Mutation	SNP	ENST00000378278.2	37	c.89T>C	CCDS31149.1	.	.	.	.	.	.	.	.	.	.	A	36	5.948575	0.97134	.	.	ENSG00000152457	ENST00000378289;ENST00000378278	T;T	0.77229	-1.08;-1.08	5.74	5.74	0.90152	Beta-lactamase-like (1);	0.000000	0.85682	D	0.000000	D	0.92182	0.7521	H	0.96916	3.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.94606	0.7800	10	0.87932	D	0	.	15.9917	0.80211	1.0:0.0:0.0:0.0	.	30;30	Q96SD1-4;Q96SD1	.;DCR1C_HUMAN	S	30	ENSP00000367538:F30S;ENSP00000367527:F30S	ENSP00000367527:F30S	F	-	2	0	DCLRE1C	15035927	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	8.148000	0.89630	2.317000	0.78254	0.459000	0.35465	TTC		0.652	DCLRE1C-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046934.1	NM_022487		11	29	0	0	0	1	0	11	29				
GALNT14	79623	broad.mit.edu	37	2	31155004	31155004	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr2:31155004G>A	ENST00000349752.5	-	10	1627	c.988C>T	c.(988-990)Cga>Tga	p.R330*	GALNT14_ENST00000324589.5_Nonsense_Mutation_p.R335*|GALNT14_ENST00000356174.3_Nonsense_Mutation_p.R297*|GALNT14_ENST00000420311.2_Nonsense_Mutation_p.R295*|GALNT14_ENST00000406653.1_Nonsense_Mutation_p.R310*|GALNT14_ENST00000486564.1_5'UTR	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	330	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					TGCCCCACTCGGCTGCAGGGG	0.577																																						ENST00000349752.5																			0				cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43						c.(988-990)Cga>Tga		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)							96.0	89.0	91.0					2																	31155004		2203	4300	6503	SO:0001587	stop_gained	79623					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:31155004G>A	AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	22946	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 14"""	608225	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"""			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.988C>T	2.37:g.31155004G>A	ENSP00000288988:p.Arg330*					GALNT14_ENST00000324589.5_Nonsense_Mutation_p.R335*|GALNT14_ENST00000420311.2_Nonsense_Mutation_p.R295*|GALNT14_ENST00000406653.1_Nonsense_Mutation_p.R310*|GALNT14_ENST00000356174.3_Nonsense_Mutation_p.R297*|GALNT14_ENST00000486564.1_5'UTR	p.R330*	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN			10	1627	-	Acute lymphoblastic leukemia(172;0.155)		330			Catalytic subdomain B.		B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Nonsense_Mutation	SNP	ENST00000349752.5	37	c.988C>T	CCDS1773.2	.	.	.	.	.	.	.	.	.	.	G	35	5.490456	0.96339	.	.	ENSG00000158089	ENST00000349752;ENST00000324589;ENST00000406653;ENST00000356174;ENST00000420311;ENST00000430167	.	.	.	4.98	2.05	0.26809	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.8242	0.63340	0.0:0.0:0.6012:0.3988	.	.	.	.	X	330;335;310;297;295;297	.	ENSP00000314500:R335X	R	-	1	2	GALNT14	31008508	1.000000	0.71417	0.981000	0.43875	0.964000	0.63967	2.440000	0.44855	0.111000	0.17947	-0.310000	0.09108	CGA		0.577	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157264.1	NM_024572		20	38	0	0	0	1	0	20	38				
SRCAP	10847	broad.mit.edu	37	16	30722964	30722964	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr16:30722964A>G	ENST00000262518.4	+	11	1776	c.1391A>G	c.(1390-1392)gAt>gGt	p.D464G	SNORA30_ENST00000384028.1_RNA|SRCAP_ENST00000344771.4_Missense_Mutation_p.D464G|SRCAP_ENST00000395059.2_Missense_Mutation_p.D464G	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	464	Glu-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AGCAGTGAAGATGAGGATGAA	0.517																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(1390-1392)gAt>gGt		Snf2-related CREBBP activator protein							106.0	105.0	106.0					16																	30722964		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30722964A>G	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.1391A>G	16.37:g.30722964A>G	ENSP00000262518:p.Asp464Gly					SRCAP_ENST00000395059.2_Missense_Mutation_p.D464G|SRCAP_ENST00000344771.4_Missense_Mutation_p.D464G	p.D464G	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		11	1776	+			464			Glu-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.1391A>G	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	A	8.727	0.915738	0.17907	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.91843	-2.92;-2.89;-2.89	4.32	4.32	0.51571	.	0.846637	0.10461	N	0.671966	D	0.85957	0.5818	N	0.24115	0.695	0.25307	N	0.989238	B;B;B	0.21606	0.017;0.058;0.01	B;B;B	0.20767	0.031;0.031;0.014	T	0.76421	-0.2965	10	0.44086	T	0.13	-0.7918	9.6343	0.39798	0.8246:0.1754:0.0:0.0	.	464;464;464	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	G	464	ENSP00000262518:D464G;ENSP00000378499:D464G;ENSP00000343042:D464G	ENSP00000262518:D464G	D	+	2	0	SRCAP	30630465	0.987000	0.35691	0.813000	0.32504	0.463000	0.32649	3.082000	0.50128	1.937000	0.56155	0.460000	0.39030	GAT		0.517	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		21	68	0	0	0	1	0	21	68				
SCNM1	79005	broad.mit.edu	37	1	151139435	151139435	+	Nonsense_Mutation	SNP	C	C	T			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr1:151139435C>T	ENST00000368905.4	+	3	259	c.148C>T	c.(148-150)Cga>Tga	p.R50*	SCNM1_ENST00000461862.1_3'UTR|LYSMD1_ENST00000440902.2_5'Flank|LYSMD1_ENST00000368908.5_5'Flank	NM_001204856.1|NM_024041.3	NP_001191785.1|NP_076946.1	Q9BWG6	SCNM1_HUMAN	sodium channel modifier 1	50					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTGCCCCCATCGACCGGTACT	0.592																																						ENST00000368905.4																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(148-150)Cga>Tga		sodium channel modifier 1							91.0	73.0	79.0					1																	151139435		2203	4300	6503	SO:0001587	stop_gained	79005				mRNA processing|RNA splicing	nucleus	metal ion binding|protein binding	g.chr1:151139435C>T	BC000264	CCDS987.1, CCDS55636.1	1q21.3	2012-03-13			ENSG00000163156	ENSG00000163156			23136	protein-coding gene	gene with protein product		608095				12920299	Standard	NM_024041		Approved	MGC3180	uc001ewz.3	Q9BWG6	OTTHUMG00000012258	ENST00000368905.4:c.148C>T	1.37:g.151139435C>T	ENSP00000357901:p.Arg50*					SCNM1_ENST00000461862.1_3'UTR	p.R50*	NM_001204856.1|NM_024041.3	NP_001191785.1|NP_076946.1	Q9BWG6	SCNM1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		3	259	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		50					B4DWR1|Q5JR74	Nonsense_Mutation	SNP	ENST00000368905.4	37	c.148C>T	CCDS987.1	.	.	.	.	.	.	.	.	.	.	C	32	5.134637	0.94517	.	.	ENSG00000163156	ENST00000368905;ENST00000368902	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.4498	17.5684	0.87927	0.0:1.0:0.0:0.0	.	.	.	.	X	50;15	.	ENSP00000357898:R15X	R	+	1	2	SCNM1	149406059	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	5.883000	0.69721	2.748000	0.94277	0.462000	0.41574	CGA		0.592	SCNM1-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034064.2	NM_024041		10	30	0	0	0	1	0	10	30				
CHTF18	63922	broad.mit.edu	37	16	844192	844192	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr16:844192G>T	ENST00000262315.9	+	15	2004	c.1941G>T	c.(1939-1941)aaG>aaT	p.K647N	CHTF18_ENST00000455171.2_Missense_Mutation_p.K675N|CHTF18_ENST00000317063.6_Missense_Mutation_p.K856N	NM_022092.2	NP_071375.1	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	647					cell cycle (GO:0007049)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				AGCACGAGAAGGTGGTCCAGG	0.682																																						ENST00000317063.6																			0				endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11						c.(2566-2568)aaG>aaT		CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)							37.0	43.0	41.0					16																	844192		2155	4258	6413	SO:0001583	missense	63922				cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr16:844192G>T	BC018184	CCDS45371.1	16p13.3	2010-04-21	2003-12-09		ENSG00000127586	ENSG00000127586		"""ATPases / AAA-type"""	18435	protein-coding gene	gene with protein product		613201	"""chromosome 16 open reading frame 41"""	C16orf41		12171929	Standard	NM_022092		Approved	CHL12, C321D2.4, Ctf18	uc002cke.4	Q8WVB6	OTTHUMG00000047838	ENST00000262315.9:c.1941G>T	16.37:g.844192G>T	ENSP00000262315:p.Lys647Asn					CHTF18_ENST00000455171.2_Missense_Mutation_p.K675N|CHTF18_ENST00000262315.9_Missense_Mutation_p.K647N	p.K856N			Q8WVB6	CTF18_HUMAN			17	2568	+		Hepatocellular(780;0.00335)	647					B7ZBA2|D3DU68|Q7Z6Y4|Q7Z6Y6|Q9BR83|Q9BRG5|Q9H7K3	Missense_Mutation	SNP	ENST00000262315.9	37	c.2568G>T	CCDS45371.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.281200	0.59758	.	.	ENSG00000127586	ENST00000317063;ENST00000455171;ENST00000262315	T;T;T	0.13420	2.62;2.6;2.59	5.47	3.49	0.39957	.	0.093553	0.64402	D	0.000001	T	0.40196	0.1107	M	0.88979	2.995	0.54753	D	0.999983	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	T	0.39800	-0.9596	10	0.56958	D	0.05	-46.4313	10.2235	0.43212	0.1666:0.0:0.8334:0.0	.	675;647	Q8WVB6-2;Q8WVB6	.;CTF18_HUMAN	N	856;675;647	ENSP00000313029:K856N;ENSP00000406252:K675N;ENSP00000262315:K647N	ENSP00000262315:K647N	K	+	3	2	CHTF18	784193	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	0.612000	0.24283	1.318000	0.45170	0.655000	0.94253	AAG		0.682	CHTF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109061.3	NM_022092		10	24	1	0	0.0167234	1	0.0167234	10	24				
LTC4S	4056	broad.mit.edu	37	5	179221091	179221091	+	Missense_Mutation	SNP	G	G	A	rs370555009		TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr5:179221091G>A	ENST00000292596.10	+	1	105	c.10G>A	c.(10-12)Gag>Aag	p.E4K	MAML1_ENST00000503050.1_3'UTR|LTC4S_ENST00000401985.3_Missense_Mutation_p.E4K	NM_145867.1	NP_665874.1	Q16873	LTC4S_HUMAN	leukotriene C4 synthase	4					arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)	enzyme activator activity (GO:0008047)|glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)|leukotriene-C4 synthase activity (GO:0004464)|lipid binding (GO:0008289)			haematopoietic_and_lymphoid_tissue(1)	1	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Glutathione(DB00143)	CATGAAGGACGAGGTAGCTCT	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		19946	0.001		0.0	False		,,,				2504	0.0					ENST00000292596.10																			0				haematopoietic_and_lymphoid_tissue(1)	1	GRCh37	CM056643	LTC4S	M		c.(10-12)Gag>Aag		leukotriene C4 synthase	Glutathione(DB00143)	G	LYS/GLU	1,4405		0,1,2202	163.0	103.0	124.0		10	3.0	0.4	5		124	0,8600		0,0,4300	no	missense	LTC4S	NM_145867.1	56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	4/151	179221091	1,13005	2203	4300	6503	SO:0001583	missense	4056				hormone biosynthetic process|leukotriene biosynthetic process|leukotriene production involved in inflammatory response|prostanoid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear outer membrane	enzyme activator activity|glutathione peroxidase activity|leukotriene-C4 synthase activity|lipid binding	g.chr5:179221091G>A	U11552	CCDS34316.1	5q35	2009-07-10			ENSG00000213316	ENSG00000213316	4.4.1.20		6719	protein-coding gene	gene with protein product		246530				8052639	Standard	NM_145867		Approved	MGC33147	uc003mko.3	Q16873	OTTHUMG00000150314	ENST00000292596.10:c.10G>A	5.37:g.179221091G>A	ENSP00000292596:p.Glu4Lys					LTC4S_ENST00000401985.3_Missense_Mutation_p.E4K|MAML1_ENST00000503050.1_3'UTR	p.E4K	NM_145867.1	NP_665874.1	Q16873	LTC4S_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	105	+	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	4					Q8N6P0|Q9UC73|Q9UD18	Missense_Mutation	SNP	ENST00000292596.10	37	c.10G>A	CCDS34316.1	.	.	.	.	.	.	.	.	.	.	G	9.458	1.092277	0.20471	2.27E-4	0.0	ENSG00000213316	ENST00000292596;ENST00000401985	T;T	0.70045	-0.45;-0.27	3.9	3.02	0.34903	Membrane associated eicosanoid/glutathione metabolism-like domain (1);	0.319966	0.28499	U	0.015140	T	0.53899	0.1825	L	0.54323	1.7	0.26611	N	0.972832	P	0.38078	0.617	B	0.31016	0.123	T	0.46857	-0.9161	10	0.36615	T	0.2	-1.1156	8.8056	0.34936	0.1099:0.0:0.8901:0.0	.	4	Q16873	LTC4S_HUMAN	K	4	ENSP00000292596:E4K;ENSP00000385627:E4K	ENSP00000292596:E4K	E	+	1	0	LTC4S	179153697	0.978000	0.34361	0.390000	0.26220	0.081000	0.17604	3.473000	0.53122	0.754000	0.32968	0.462000	0.41574	GAG		0.617	LTC4S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317536.2	NM_000897		9	28	0	0	0	1	0	9	28				
ALG1L	200810	broad.mit.edu	37	3	125647387	125647387	+	IGR	SNP	G	G	A			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr3:125647387G>A	ENST00000340333.3	-	0	805				FAM86JP_ENST00000485843.1_RNA	NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like								transferase activity, transferring glycosyl groups (GO:0016757)			large_intestine(2)|lung(2)	4						ACCAGAAACTGTTTCCCTATG	0.502																																						ENST00000485843.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr3:125647387G>A	BC073816	CCDS33840.1, CCDS74998.1	3q21.2	2013-02-22	2013-02-22		ENSG00000189366	ENSG00000189366		"""Glycosyltransferase group 1 domain containing"""	33721	protein-coding gene	gene with protein product	"""asparagine-linked glycosylation 1-like 1"""		"""asparagine-linked glycosylation 1-like"""				Standard	NM_001015050		Approved	ALG1L1	uc003eig.2	Q6GMV1	OTTHUMG00000159588		3.37:g.125647387G>A								NR_024251.1						0	532	+								D3DNA5	RNA	SNP	ENST00000340333.3	37		CCDS33840.1																																																																																				0.502	ALG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356347.1	NM_001015050		4	95	0	0	0	1	0	4	95				
TNXB	7148	broad.mit.edu	37	6	32017326	32017326	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr6:32017326C>A	ENST00000375244.3	-	28	9679	c.9478G>T	c.(9478-9480)Gcc>Tcc	p.A3160S	TNXB_ENST00000375247.2_Missense_Mutation_p.A3158S			P22105	TENX_HUMAN	tenascin XB	3205	Fibronectin type-III 23. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCCTCCGGGGCCTCAGTGCTG	0.657																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(9478-9480)Gcc>Tcc		tenascin XB							37.0	41.0	40.0					6																	32017326		1164	2504	3668	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32017326C>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.9478G>T	6.37:g.32017326C>A	ENSP00000364393:p.Ala3160Ser					TNXB_ENST00000375247.2_Missense_Mutation_p.A3158S	p.A3160S			P22105	TENX_HUMAN			28	9679	-			3205			Fibronectin type-III 23.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.9478G>T		.	.	.	.	.	.	.	.	.	.	C	13.29	2.193524	0.38707	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.58210	0.5;0.35	3.87	3.87	0.44632	.	0.000000	0.46758	D	0.000269	T	0.54240	0.1846	M	0.79805	2.47	0.22571	N	0.998972	D	0.56287	0.975	P	0.62560	0.904	T	0.47799	-0.9089	10	0.18276	T	0.48	.	11.246	0.48998	0.0:1.0:0.0:0.0	.	3158	P22105-3	.	S	3160;3158	ENSP00000364393:A3160S;ENSP00000364396:A3158S	ENSP00000364393:A3160S	A	-	1	0	TNXB	32125304	0.378000	0.25114	1.000000	0.80357	0.084000	0.17831	0.858000	0.27845	2.006000	0.58801	0.306000	0.20318	GCC		0.657	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		10	30	1	0	2.17888e-05	1	2.25811e-05	10	30				
BEST2	54831	broad.mit.edu	37	19	12866250	12866250	+	Missense_Mutation	SNP	G	G	A	rs371801091		TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr19:12866250G>A	ENST00000549706.1	+	6	1018	c.694G>A	c.(694-696)Gta>Ata	p.V232I	BEST2_ENST00000553030.1_Missense_Mutation_p.V232I|BEST2_ENST00000042931.1_Missense_Mutation_p.V232I			Q8NFU1	BEST2_HUMAN	bestrophin 2	232					chloride transmembrane transport (GO:1902476)|membrane depolarization (GO:0051899)|sensory perception of smell (GO:0007608)	chloride channel complex (GO:0034707)|cilium (GO:0005929)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						CTGGATTAGCGTACCCCTCGT	0.507																																						ENST00000549706.1																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						c.(694-696)Gta>Ata		bestrophin 2		G	ILE/VAL	1,4023		0,1,2011	153.0	149.0	150.0		694	0.9	0.8	19		150	0,8342		0,0,4171	no	missense	BEST2	NM_017682.2	29	0,1,6182	AA,AG,GG		0.0,0.0249,0.0081	benign	232/510	12866250	1,12365	2012	4171	6183	SO:0001583	missense	54831				membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity	g.chr19:12866250G>A	AF440756	CCDS42506.1	19p13.13	2014-08-12	2006-10-18	2006-10-18	ENSG00000039987	ENSG00000039987		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17107	protein-coding gene	gene with protein product		607335	"""vitelliform macular dystrophy 2-like 1"""	VMD2L1		12032738, 16912113	Standard	NM_017682		Approved	FLJ20132	uc002mux.3	Q8NFU1	OTTHUMG00000169293	ENST00000549706.1:c.694G>A	19.37:g.12866250G>A	ENSP00000448310:p.Val232Ile					BEST2_ENST00000553030.1_Missense_Mutation_p.V232I|BEST2_ENST00000042931.1_Missense_Mutation_p.V232I	p.V232I			Q8NFU1	BEST2_HUMAN			6	1018	+			232					Q53YQ8|Q9NXP0	Missense_Mutation	SNP	ENST00000549706.1	37	c.694G>A	CCDS42506.1	.	.	.	.	.	.	.	.	.	.	G	8.073	0.770672	0.15983	2.49E-4	0.0	ENSG00000039987	ENST00000549706;ENST00000553030;ENST00000042931	D;D;D	0.98028	-4.67;-4.67;-4.67	4.13	0.924	0.19418	.	0.077471	0.50627	N	0.000109	D	0.89815	0.6824	N	0.10629	0.01	0.49213	D	0.999767	B	0.09022	0.002	B	0.16289	0.015	T	0.81129	-0.1073	10	0.02654	T	1	-10.5646	8.2563	0.31758	0.2782:0.0:0.7218:0.0	.	232	Q8NFU1	BEST2_HUMAN	I	232	ENSP00000448310:V232I;ENSP00000447203:V232I;ENSP00000042931:V232I	ENSP00000042931:V232I	V	+	1	0	BEST2	12727250	0.770000	0.28543	0.833000	0.33012	0.861000	0.49209	0.943000	0.29030	0.146000	0.19002	0.544000	0.68410	GTA		0.507	BEST2-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403343.1	NM_017682		7	24	0	0	0	1	0	7	24				
CTAGE9	643854	broad.mit.edu	37	6	132032076	132032076	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr6:132032076C>A	ENST00000314099.8	-	1	130	c.82G>T	c.(82-84)Gag>Tag	p.E28*	ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000357639.3_Intron	NM_001145659.1|NM_001278507.1	NP_001139131.1|NP_001265436.1	A4FU28	CTGE9_HUMAN	CTAGE family, member 9	28						integral component of membrane (GO:0016021)				endometrium(1)|lung(1)	2						CTCATACTCTCAGGTAGTGCT	0.522																																						ENST00000314099.8																			0				endometrium(1)|lung(1)	2						c.(82-84)Gag>Tag		CTAGE family, member 9							105.0	183.0	165.0					6																	132032076		482	1572	2054	SO:0001587	stop_gained	643854					integral to membrane		g.chr6:132032076C>A		CCDS47475.1	6q23.2	2010-06-23			ENSG00000236761	ENSG00000236761			37275	protein-coding gene	gene with protein product							Standard	NM_001145659		Approved		uc011ece.2	A4FU28	OTTHUMG00000047966	ENST00000314099.8:c.82G>T	6.37:g.132032076C>A	ENSP00000395587:p.Glu28*					ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000358229.5_Intron	p.E28*	NM_001145659.1|NM_001278507.1	NP_001139131.1|NP_001265436.1	A4FU28	CTGE9_HUMAN			1	130	-			28						Nonsense_Mutation	SNP	ENST00000314099.8	37	c.82G>T	CCDS47475.1	.	.	.	.	.	.	.	.	.	.	-	11.36	1.614956	0.28712	.	.	ENSG00000236761	ENST00000314099	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	.	.	.	.	.	.	.	X	28	.	ENSP00000395587:E28X	E	-	1	0	CTAGE9	132073769	1.000000	0.71417	0.007000	0.13788	0.000000	0.00434	0.559000	0.23485	0.497000	0.27926	0.000000	0.15137	GAG		0.522	CTAGE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109220.1	NM_001145659		16	41	1	0	1.15088e-07	1	1.28627e-07	16	41				
SPOP	8405	broad.mit.edu	37	17	47696689	47696689	+	Missense_Mutation	SNP	A	A	T			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr17:47696689A>T	ENST00000393328.2	-	5	624	c.259T>A	c.(259-261)Tac>Aac	p.Y87N	SPOP_ENST00000503676.1_Missense_Mutation_p.Y87N|SPOP_ENST00000393331.3_Missense_Mutation_p.Y87N|SPOP_ENST00000504102.1_Missense_Mutation_p.Y87N|SPOP_ENST00000513080.1_5'UTR|SPOP_ENST00000347630.2_Missense_Mutation_p.Y87N	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	87	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.Y87N(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						AGTAACAGGTAAAGTGACAGG	0.403										Prostate(2;0.17)																												ENST00000393331.3																			2	Substitution - Missense(2)	p.Y87N(2)	prostate(2)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(259-261)Tac>Aac		speckle-type POZ protein							113.0	106.0	108.0					17																	47696689		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696689A>T	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.259T>A	17.37:g.47696689A>T	ENSP00000377001:p.Tyr87Asn	Prostate(2;0.17)				SPOP_ENST00000347630.2_Missense_Mutation_p.Y87N|SPOP_ENST00000503676.1_Missense_Mutation_p.Y87N|SPOP_ENST00000393328.2_Missense_Mutation_p.Y87N|SPOP_ENST00000504102.1_Missense_Mutation_p.Y87N|SPOP_ENST00000513080.1_5'UTR	p.Y87N	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			6	729	-			87			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.259T>A	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.737620	0.89573	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121;ENST00000515508	T;T;T;T;T;T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41	5.52	5.52	0.82312	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	D	0.86163	0.5867	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89503	0.3765	10	0.66056	D	0.02	-9.2801	15.4649	0.75390	1.0:0.0:0.0:0.0	.	87	O43791	SPOP_HUMAN	N	87;87;87;87;87;40;87;87;87;87;87	ENSP00000377001:Y87N;ENSP00000377004:Y87N;ENSP00000240327:Y87N;ENSP00000425905:Y87N;ENSP00000420908:Y87N;ENSP00000426986:Y87N;ENSP00000420960:Y87N;ENSP00000426262:Y87N;ENSP00000424119:Y87N;ENSP00000426537:Y87N	ENSP00000240327:Y87N	Y	-	1	0	SPOP	45051688	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.135000	0.94478	2.317000	0.78254	0.460000	0.39030	TAC		0.403	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		20	55	0	0	0	1	0	20	55				
ZNF815P	401303	broad.mit.edu	37	7	5879595	5879595	+	RNA	SNP	G	G	A	rs187286244	byFrequency	TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr7:5879595G>A	ENST00000421890.1	+	0	528							A8K554	ZN815_HUMAN	zinc finger protein 815, pseudogene																		ACTGTCATTCGGGGACGTGGC	0.567													N|||	22	0.00439297	0.0166	0.0	5008	,	,		17686	0.0		0.0	False		,,,				2504	0.0					ENST00000421890.1																			0																																																			0							g.chr7:5879595G>A	AK096288		7p22.1	2012-10-05	2012-04-20	2012-04-20	ENSG00000235944	ENSG00000235944			22029	pseudogene	pseudogene			"""zinc finger protein 815"""	ZNF815			Standard	NR_023382		Approved	FLJ38969	uc003spc.2	A8K554	OTTHUMG00000155501		7.37:g.5879595G>A														0	528	+									RNA	SNP	ENST00000421890.1	37																																																																																						0.567	ZNF815P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340385.1			7	10	0	0	0	1	0	7	10				
MYT1L	23040	broad.mit.edu	37	2	1926342	1926342	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr2:1926342G>A	ENST00000399161.2	-	10	1946	c.1199C>T	c.(1198-1200)gCg>gTg	p.A400V	MYT1L_ENST00000428368.2_Missense_Mutation_p.A400V	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	400					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		ATCCTCCTTCGCACAGCTGGC	0.592																																						ENST00000399161.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(1198-1200)gCg>gTg		myelin transcription factor 1-like							54.0	55.0	54.0					2																	1926342		2144	4248	6392	SO:0001583	missense	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1926342G>A	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1199C>T	2.37:g.1926342G>A	ENSP00000382114:p.Ala400Val					MYT1L_ENST00000428368.2_Missense_Mutation_p.A400V	p.A400V	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	10	1946	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	400					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37	c.1199C>T		.	.	.	.	.	.	.	.	.	.	G	15.21	2.765325	0.49574	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.49139	0.79;0.82	5.97	5.1	0.69264	.	0.125428	0.52532	D	0.000069	T	0.36799	0.0980	L	0.27053	0.805	0.58432	D	0.999999	B;B	0.21821	0.036;0.061	B;B	0.15052	0.005;0.012	T	0.10268	-1.0637	10	0.39692	T	0.17	-30.9306	15.482	0.75534	0.0663:0.0:0.9337:0.0	.	400;400	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	V	400;348;400	ENSP00000382114:A400V;ENSP00000396103:A400V	ENSP00000295067:A348V	A	-	2	0	MYT1L	1905349	1.000000	0.71417	0.548000	0.28192	0.232000	0.25224	5.384000	0.66225	1.540000	0.49301	0.655000	0.94253	GCG		0.592	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		33	14	0	0	0	1	0	33	14				
CD81	975	broad.mit.edu	37	11	2416275	2416275	+	Splice_Site	SNP	A	A	G			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr11:2416275A>G	ENST00000263645.5	+	4	609	c.353A>G	c.(352-354)cAg>cGg	p.Q118R	CD81_ENST00000524805.1_3'UTR|CD81_ENST00000481687.1_Splice_Site_p.Q124R|CD81_ENST00000526072.1_Splice_Site_p.Q47R|CD81_ENST00000381036.3_Splice_Site_p.Q156R|CD81_ENST00000492627.1_Splice_Site_p.Q47R	NM_004356.3	NP_004347.1	P60033	CD81_HUMAN	CD81 molecule	118					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of 1-phosphatidylinositol 4-kinase activity (GO:0043128)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein localization (GO:0008104)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of immune response (GO:0050776)|viral entry into host cell (GO:0046718)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	MHC class II protein complex binding (GO:0023026)			endometrium(1)|lung(3)|skin(1)	5		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)		AACAAGGACCAGGTGAGCCTG	0.662																																						ENST00000263645.5																			0				endometrium(1)|lung(3)|skin(1)	5						c.e4+1		CD81 molecule							57.0	54.0	55.0					11																	2416275		2201	4297	6498	SO:0001630	splice_region_variant	975				activation of MAPK activity|cell proliferation|phosphatidylinositol biosynthetic process|positive regulation of 1-phosphatidylinositol 4-kinase activity|positive regulation of cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization|regulation of immune response|virion attachment, binding of host cell surface receptor	integral to plasma membrane	protein binding	g.chr11:2416275A>G		CCDS7734.1, CCDS73240.1	11p15.5	2014-09-17	2006-03-28		ENSG00000110651	ENSG00000110651		"""CD molecules"", ""Tetraspanins"""	1701	protein-coding gene	gene with protein product		186845	"""CD81 antigen (target of antiproliferative antibody 1)"""	TAPA1		1650385	Standard	XM_005253260		Approved	TAPA-1, TSPAN28	uc001lwf.1	P60033	OTTHUMG00000009892	ENST00000263645.5:c.354+1A>G	11.37:g.2416275A>G						CD81_ENST00000524805.1_3'UTR|CD81_ENST00000526072.1_Splice_Site_p.Q47_splice|CD81_ENST00000481687.1_Splice_Site_p.Q124_splice|CD81_ENST00000492627.1_Splice_Site_p.Q47_splice|CD81_ENST00000381036.3_Splice_Site_p.Q156_splice	p.Q118_splice	NM_004356.3	NP_004347.1	P60033	CD81_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)	4	609	+		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)	118					P18582|Q5U0J6	Splice_Site	SNP	ENST00000263645.5	37	c.354_splice	CCDS7734.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.23|17.23	3.335520|3.335520	0.60853|0.60853	.|.	.|.	ENSG00000110651|ENSG00000110651	ENST00000475945;ENST00000530648;ENST00000263645;ENST00000533417;ENST00000492627;ENST00000527343;ENST00000381036;ENST00000492252;ENST00000526072;ENST00000481687|ENST00000464784	T;T;T;T;T;T;T;T;T;T|.	0.80480|.	-1.38;-1.38;-1.38;-1.38;-1.38;-1.38;-1.38;-1.38;-1.38;-1.38|.	3.52|3.52	3.52|3.52	0.40303|0.40303	Tetraspanin, EC2 domain (1);CD81 extracellular domain (1);|.	0.147233|.	0.46442|.	D|.	0.000297|.	T|T	0.56790|0.56790	0.2009|0.2009	L|L	0.43646|0.43646	1.37|1.37	0.48975|0.48975	D|D	0.999738|0.999738	P;P|.	0.41947|.	0.766;0.533|.	P;B|.	0.45071|.	0.468;0.334|.	T|T	0.53885|0.53885	-0.8375|-0.8375	10|5	0.37606|.	T|.	0.19|.	.|.	11.3267|11.3267	0.49452|0.49452	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	156;118|.	A6NMH8;P60033|.	.;CD81_HUMAN|.	R|G	47;47;118;113;47;107;156;111;47;124|103	ENSP00000433178:Q47R;ENSP00000432723:Q47R;ENSP00000263645:Q118R;ENSP00000435633:Q113R;ENSP00000437242:Q47R;ENSP00000433767:Q107R;ENSP00000370424:Q156R;ENSP00000432249:Q111R;ENSP00000431780:Q47R;ENSP00000432033:Q124R|.	ENSP00000263645:Q118R|.	Q|R	+|+	2|1	0|2	CD81|CD81	2372851|2372851	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	3.287000|3.287000	0.51732|0.51732	1.621000|1.621000	0.50320|0.50320	0.459000|0.459000	0.35465|0.35465	CAG|AGA		0.662	CD81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027357.4	NM_004356	Missense_Mutation	3	40	0	0	0	1	0	3	40				
LOXL3	84695	broad.mit.edu	37	2	74762802	74762802	+	Silent	SNP	G	G	A			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr2:74762802G>A	ENST00000264094.3	-	8	1400	c.1329C>T	c.(1327-1329)ggC>ggT	p.G443G	LOXL3_ENST00000409249.1_Intron|LOXL3_ENST00000393937.2_Silent_p.G298G|LOXL3_ENST00000409549.1_Intron|LOXL3_ENST00000409986.1_Silent_p.G298G	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	443	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.				epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CACAGATGAGGCCCCAGCGAA	0.642																																						ENST00000264094.3																			0				endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						c.(1327-1329)ggC>ggT		lysyl oxidase-like 3							55.0	66.0	62.0					2																	74762802		2203	4300	6503	SO:0001819	synonymous_variant	84695					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity	g.chr2:74762802G>A	AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.1329C>T	2.37:g.74762802G>A						LOXL3_ENST00000409986.1_Silent_p.G298G|LOXL3_ENST00000409249.1_Intron|LOXL3_ENST00000409549.1_Intron|LOXL3_ENST00000393937.2_Silent_p.G298G	p.G443G	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN			8	1400	-			443			SRCR 4.		D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Silent	SNP	ENST00000264094.3	37	c.1329C>T	CCDS1953.1	.	.	.	.	.	.	.	.	.	.	G	7.168	0.587036	0.13749	.	.	ENSG00000115318	ENST00000420535	.	.	.	5.02	-0.991	0.10235	.	.	.	.	.	T	0.39860	0.1094	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25222	-1.0138	4	.	.	.	.	1.4819	0.02438	0.4103:0.138:0.3099:0.1418	.	.	.	.	S	170	.	.	P	-	1	0	LOXL3	74616310	0.001000	0.12720	0.996000	0.52242	0.984000	0.73092	-0.646000	0.05403	-0.084000	0.12595	-0.253000	0.11424	CCT		0.642	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252215.1	NM_032603		45	54	0	0	0	1	0	45	54				
CHD5	26038	broad.mit.edu	37	1	6206323	6206323	+	Missense_Mutation	SNP	C	C	T	rs141210110		TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr1:6206323C>T	ENST00000262450.3	-	11	1850	c.1751G>A	c.(1750-1752)cGc>cAc	p.R584H	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GATGCCATAGCGGTAGAAGCG	0.607																																						ENST00000262450.3																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(1750-1752)cGc>cAc		chromodomain helicase DNA binding protein 5		C	HIS/ARG	0,4406		0,0,2203	146.0	145.0	145.0		1751	3.8	1.0	1	dbSNP_134	145	2,8598	2.2+/-6.3	0,2,4298	yes	missense	CHD5	NM_015557.2	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	584/1955	6206323	2,13004	2203	4300	6503	SO:0001583	missense	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6206323C>T	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.1751G>A	1.37:g.6206323C>T	ENSP00000262450:p.Arg584His					CHD5_ENST00000378021.1_5'UTR	p.R584H	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	11	1850	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	584					A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.1751G>A	CCDS57.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.686569	0.88639	0.0	2.33E-4	ENSG00000116254	ENST00000262450;ENST00000378006	T	0.72725	-0.68	3.85	3.85	0.44370	Chromo domain-like (1);	0.000000	0.85682	D	0.000000	D	0.85414	0.5691	M	0.86953	2.85	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.88972	0.3401	10	0.87932	D	0	-21.9232	16.3262	0.82983	0.0:1.0:0.0:0.0	.	584	Q8TDI0	CHD5_HUMAN	H	584;100	ENSP00000262450:R584H	ENSP00000262450:R584H	R	-	2	0	CHD5	6128910	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.558000	0.82253	2.138000	0.66242	0.462000	0.41574	CGC		0.607	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		30	61	0	0	0	1	0	30	61				
MANEA	79694	broad.mit.edu	37	6	96054103	96054103	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr6:96054103A>G	ENST00000358812.4	+	5	1345	c.1211A>G	c.(1210-1212)gAg>gGg	p.E404G		NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	404	Catalytic. {ECO:0000305}.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		TCTTTTAATGAGTGGCATGAA	0.418																																						ENST00000358812.4																			0				breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1210-1212)gAg>gGg		mannosidase, endo-alpha							60.0	61.0	61.0					6																	96054103		2203	4300	6503	SO:0001583	missense	79694				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity	g.chr6:96054103A>G	AK022900	CCDS5032.1	6q16.2	2008-02-05			ENSG00000172469	ENSG00000172469			21072	protein-coding gene	gene with protein product		612327					Standard	NM_024641		Approved	FLJ12838, mandaselin	uc003poo.2	Q5SRI9	OTTHUMG00000016296	ENST00000358812.4:c.1211A>G	6.37:g.96054103A>G	ENSP00000351669:p.Glu404Gly						p.E404G	NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.148)	5	1345	+		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)	404			Catalytic (Probable).		A6H8M6|Q5SRJ0|Q6MZV0|Q70JE9|Q7Z3V7|Q8WWX5|Q9H9D2	Missense_Mutation	SNP	ENST00000358812.4	37	c.1211A>G	CCDS5032.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.814975	0.90790	.	.	ENSG00000172469	ENST00000358812	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.82834	0.5123	M	0.90309	3.105	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86549	0.1833	9	0.87932	D	0	-18.1636	16.0034	0.80327	1.0:0.0:0.0:0.0	.	404	Q5SRI9	MANEA_HUMAN	G	404	.	ENSP00000351669:E404G	E	+	2	0	MANEA	96160824	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.850000	0.92190	2.371000	0.80710	0.533000	0.62120	GAG		0.418	MANEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043644.1	NM_024641		15	33	0	0	0	1	0	15	33				
DIP2A	23181	broad.mit.edu	37	21	47987298	47987298	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr21:47987298G>A	ENST00000417564.2	+	38	4500	c.4479G>A	c.(4477-4479)tgG>tgA	p.W1493*	DIP2A_ENST00000400274.1_Nonsense_Mutation_p.W1489*|DIP2A_ENST00000318711.7_Nonsense_Mutation_p.W1494*|DIP2A_ENST00000479654.1_3'UTR			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	1493					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		TATTCACCTGGACCAACCTGC	0.592																																						ENST00000318711.7																			0				cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(4480-4482)tgG>tgA		DIP2 disco-interacting protein 2 homolog A (Drosophila)							86.0	91.0	90.0					21																	47987298		2203	4300	6503	SO:0001587	stop_gained	23181				multicellular organismal development	nucleus	catalytic activity|transcription factor binding	g.chr21:47987298G>A	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.4479G>A	21.37:g.47987298G>A	ENSP00000392066:p.Trp1493*					DIP2A_ENST00000400274.1_Nonsense_Mutation_p.W1489*|DIP2A_ENST00000479654.1_3'UTR|DIP2A_ENST00000417564.2_Nonsense_Mutation_p.W1493*	p.W1494*	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN		Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)	38	4665	+	Breast(49;0.0933)		1493					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Nonsense_Mutation	SNP	ENST00000417564.2	37	c.4482G>A	CCDS46655.1	.	.	.	.	.	.	.	.	.	.	G	46	12.724119	0.99691	.	.	ENSG00000160305	ENST00000400274;ENST00000318711;ENST00000417564	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.8398	19.0426	0.93006	0.0:0.0:1.0:0.0	.	.	.	.	X	1489;1494;1493	.	ENSP00000323633:W1494X	W	+	3	0	DIP2A	46811726	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.627000	0.98412	2.748000	0.94277	0.655000	0.94253	TGG		0.592	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		18	79	0	0	0	1	0	18	79				
ZNF536	9745	broad.mit.edu	37	19	30935384	30935384	+	Silent	SNP	C	C	T	rs551108092		TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr19:30935384C>T	ENST00000355537.3	+	2	1062	c.915C>T	c.(913-915)tgC>tgT	p.C305C		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	305					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCACGTTGTGCGACTTCGCGG	0.647													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16583	0.0		0.0	False		,,,				2504	0.0					ENST00000355537.3																			0				NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(913-915)tgC>tgT		zinc finger protein 536							71.0	78.0	76.0					19																	30935384		2203	4300	6503	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935384C>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.915C>T	19.37:g.30935384C>T							p.C305C	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			2	1062	+	Esophageal squamous(110;0.0834)		305					A2RU18	Silent	SNP	ENST00000355537.3	37	c.915C>T	CCDS32984.1																																																																																				0.647	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		42	53	0	0	0	1	0	42	53				
DPY19L2P2	349152	broad.mit.edu	37	7	102825946	102825946	+	RNA	SNP	C	C	T			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr7:102825946C>T	ENST00000312132.4	-	0	3751							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										GACAGCTTGACACTTGCCATT	0.373																																						ENST00000312132.4																			0																																																			0							g.chr7:102825946C>T	AL834175		7q22.1	2013-09-12	2013-09-12		ENSG00000170629	ENSG00000170629			21764	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 2 (C. elegans)"""				Standard	NR_027768		Approved	DKFZp434E092, FLJ36166	uc003vbh.4	Q6ZN68	OTTHUMG00000157200		7.37:g.102825946C>T														0	3751	-								Q8N9V4|Q8ND62	RNA	SNP	ENST00000312132.4	37																																																																																						0.373	DPY19L2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347877.1	NM_182634		4	98	0	0	0	1	0	4	98				
TGIF2	60436	broad.mit.edu	37	20	35207278	35207278	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr20:35207278G>A	ENST00000373874.2	+	2	300	c.101G>A	c.(100-102)cGg>cAg	p.R34Q	RP5-977B1.11_ENST00000561134.1_RNA|TGIF2_ENST00000373872.4_Missense_Mutation_p.R34Q|TGIF2-C20orf24_ENST00000558530.1_Missense_Mutation_p.R34Q	NM_001199514.1|NM_001199515.1	NP_001186443.1|NP_001186444.1	Q9GZN2	TGIF2_HUMAN	TGFB-induced factor homeobox 2	34					gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nodal signaling pathway (GO:0038092)|positive regulation of neuron differentiation (GO:0045666)|regulation of gastrulation (GO:0010470)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				AAGATCCTCCGGGACTGGCTG	0.592																																						ENST00000373874.2																			0				cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14						c.(100-102)cGg>cAg		TGFB-induced factor homeobox 2							126.0	107.0	114.0					20																	35207278		2203	4300	6503	SO:0001583	missense	60436					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:35207278G>A	AB042646	CCDS13278.1	20q11.23	2012-12-12	2007-02-07		ENSG00000118707	ENSG00000118707		"""Homeoboxes / TALE class"""	15764	protein-coding gene	gene with protein product		607294	"""TGFB-induced factor 2 (TALE family homeobox)"""			11006116	Standard	NM_021809		Approved		uc021wcv.1	Q9GZN2	OTTHUMG00000172332	ENST00000373874.2:c.101G>A	20.37:g.35207278G>A	ENSP00000362981:p.Arg34Gln					TGIF2-C20orf24_ENST00000558530.1_Missense_Mutation_p.R34Q|RP5-977B1.11_ENST00000561134.1_RNA|TGIF2_ENST00000373872.4_Missense_Mutation_p.R34Q	p.R34Q	NM_001199514.1|NM_001199515.1	NP_001186443.1|NP_001186444.1	Q9GZN2	TGIF2_HUMAN			2	300	+	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)	34					B2R9U3|E1P5T9|H0YNI0	Missense_Mutation	SNP	ENST00000373874.2	37	c.101G>A	CCDS13278.1	.	.	.	.	.	.	.	.	.	.	G	35	5.576827	0.96565	.	.	ENSG00000118707	ENST00000373874;ENST00000373872	D;D	0.83914	-1.78;-1.78	5.01	5.01	0.66863	Homeodomain-related (1);Homeobox (2);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.86435	0.5932	L	0.52905	1.665	0.28613	N	0.908575	D	0.60160	0.987	P	0.55508	0.777	T	0.83119	-0.0119	10	0.87932	D	0	-21.016	15.8254	0.78703	0.0:0.0:1.0:0.0	.	34	Q9GZN2	TGIF2_HUMAN	Q	34	ENSP00000362981:R34Q;ENSP00000362979:R34Q	ENSP00000362979:R34Q	R	+	2	0	TGIF2	34640692	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	7.499000	0.81566	2.316000	0.78162	0.561000	0.74099	CGG		0.592	TGIF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079004.2	NM_021809		21	66	0	0	0	1	0	21	66				
TBP	6908	broad.mit.edu	37	6	170871052	170871052	+	Silent	SNP	G	G	A	rs112083427|rs369312237	byFrequency	TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr6:170871052G>A	ENST00000392092.2	+	3	507	c.228G>A	c.(226-228)caG>caA	p.Q76Q	TBP_ENST00000230354.6_Silent_p.Q76Q|TBP_ENST00000540980.1_Silent_p.Q56Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	76	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q76Q(4)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacagcagcagcagcagc	0.572																																						ENST00000392092.2																			4	Substitution - coding silent(4)	p.Q76Q(4)	lung(3)|prostate(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(226-228)caG>caA		TATA box binding protein							14.0	19.0	17.0					6																	170871052		1952	3842	5794	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871052G>A	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.228G>A	6.37:g.170871052G>A						TBP_ENST00000540980.1_Silent_p.Q56Q|TBP_ENST00000230354.6_Silent_p.Q76Q	p.Q76Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	507	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	76			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.228G>A	CCDS5315.1																																																																																				0.572	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		5	17	0	0	0	1	0	5	17				
ELF1	1997	broad.mit.edu	37	13	41508157	41508157	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr13:41508157G>T	ENST00000239882.3	-	9	1578	c.1264C>A	c.(1264-1266)Cag>Aag	p.Q422K	ELF1_ENST00000442101.1_Missense_Mutation_p.Q398K|ELF1_ENST00000498824.1_5'UTR	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	422					cell differentiation (GO:0030154)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine production (GO:0001817)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		GTTGGAGCCTGTATAGTCCTA	0.383																																						ENST00000239882.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(1264-1266)Cag>Aag		E74-like factor 1 (ets domain transcription factor)							91.0	82.0	85.0					13																	41508157		2203	4300	6503	SO:0001583	missense	1997				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:41508157G>T	M82882	CCDS9374.1	13q13	2008-07-18			ENSG00000120690	ENSG00000120690			3316	protein-coding gene	gene with protein product		189973				1545787	Standard	NM_001145353		Approved		uc001uxs.3	P32519	OTTHUMG00000016783	ENST00000239882.3:c.1264C>A	13.37:g.41508157G>T	ENSP00000239882:p.Gln422Lys					ELF1_ENST00000498824.1_5'UTR|ELF1_ENST00000442101.1_Missense_Mutation_p.Q398K	p.Q422K	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)	9	1578	-		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)	422					B4E2I5|E9PDQ9|Q8N6F6|Q9UDE1	Missense_Mutation	SNP	ENST00000239882.3	37	c.1264C>A	CCDS9374.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.722767	0.30503	.	.	ENSG00000120690	ENST00000442101;ENST00000379498;ENST00000239882	T;T	0.39229	1.09;1.09	5.44	5.44	0.79542	.	0.213135	0.41823	D	0.000808	T	0.37210	0.0995	L	0.34521	1.04	0.38565	D	0.949811	P;P	0.48911	0.835;0.917	B;B	0.40982	0.272;0.345	T	0.37619	-0.9698	10	0.51188	T	0.08	.	19.2715	0.94011	0.0:0.0:1.0:0.0	.	398;422	E9PDQ9;P32519	.;ELF1_HUMAN	K	398;164;422	ENSP00000405580:Q398K;ENSP00000239882:Q422K	ENSP00000239882:Q422K	Q	-	1	0	ELF1	40406157	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.754000	0.62191	2.539000	0.85634	0.655000	0.94253	CAG		0.383	ELF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044654.3	NM_172373		18	27	1	0	3.32936e-07	1	3.64949e-07	18	27				
GOLGA8DP	100132979	broad.mit.edu	37	15	22709637	22709637	+	RNA	SNP	T	T	G	rs375512037		TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr15:22709637T>G	ENST00000314246.8	-	0	1147				RN7SL545P_ENST00000495815.2_RNA			Q0D2H9	GOG8D_HUMAN	golgin A8 family, member D, pseudogene							Golgi apparatus (GO:0005794)											CCCATCTGGTTTTTGAGTTTG	0.547																																						ENST00000314246.8																			0																																																			0							g.chr15:22709637T>G			15q11.2	2014-04-10	2011-04-15	2010-02-12	ENSG00000185182	ENSG00000185182			32376	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 8D"""	GOLGA8D		12477932	Standard	NR_027407		Approved		uc010axw.2	Q0D2H9	OTTHUMG00000171882		15.37:g.22709637T>G														0	1147	-									RNA	SNP	ENST00000314246.8	37			.	.	.	.	.	.	.	.	.	.	t	4.705	0.131021	0.08981	.	.	ENSG00000185182	ENST00000341390;ENST00000314246;ENST00000317692	.	.	.	0.921	0.921	0.19403	.	.	.	.	.	T	0.23330	0.0564	.	.	.	.	.	.	B	0.10296	0.003	B	0.08055	0.003	T	0.20773	-1.0265	6	0.25751	T	0.34	.	4.1761	0.10353	0.0:0.0:0.0:1.0	.	84	F8WBT8	.	H	84;84;302	.	ENSP00000327024:N84H	N	-	1	0	AC116165.1	20261001	0.018000	0.18449	0.020000	0.16555	0.004000	0.04260	2.215000	0.42862	0.684000	0.31448	0.228000	0.17796	AAC		0.547	GOLGA8DP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415613.1	NR_027407		4	148	0	0	0	1	0	4	148				
USHBP1	83878	broad.mit.edu	37	19	17374839	17374839	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr19:17374839C>A	ENST00000252597.3	-	3	348	c.175G>T	c.(175-177)Gag>Tag	p.E59*	USHBP1_ENST00000431146.2_Intron|USHBP1_ENST00000598570.1_Intron	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1											breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						CCACTGACCTCCTCCATGGGG	0.617																																						ENST00000252597.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						c.(175-177)Gag>Tag		Usher syndrome 1C binding protein 1							40.0	34.0	36.0					19																	17374839		2203	4300	6503	SO:0001587	stop_gained	83878						PDZ domain binding	g.chr19:17374839C>A	AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.175G>T	19.37:g.17374839C>A	ENSP00000252597:p.Glu59*					USHBP1_ENST00000431146.2_Intron|USHBP1_ENST00000598570.1_Intron	p.E59*	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN			3	348	-			59						Nonsense_Mutation	SNP	ENST00000252597.3	37	c.175G>T	CCDS12353.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.156143	0.57259	.	.	ENSG00000130307	ENST00000252597;ENST00000324554	.	.	.	2.63	1.56	0.23342	.	0.229900	0.22396	N	0.060609	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-7.4936	7.3558	0.26719	0.0:0.7264:0.2736:0.0	.	.	.	.	X	59	.	ENSP00000252597:E59X	E	-	1	0	USHBP1	17235839	0.014000	0.17966	0.005000	0.12908	0.002000	0.02628	0.725000	0.25970	0.659000	0.30945	-0.302000	0.09304	GAG		0.617	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463328.1	NM_031941		3	14	1	0	6.4e-05	1	6.51429e-05	3	14				
RAG1	5896	broad.mit.edu	37	11	36595191	36595191	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr11:36595191A>G	ENST00000299440.5	+	2	449	c.337A>G	c.(337-339)Atc>Gtc	p.I113V		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	113	Interaction with importin alpha-1.				adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				TCTCTGCCGCATCTGTGGGAA	0.443									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	ENST00000299440.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65						c.(337-339)Atc>Gtc		recombination activating gene 1							112.0	107.0	108.0					11																	36595191		2202	4298	6500	SO:0001583	missense	5896	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36595191A>G	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.337A>G	11.37:g.36595191A>G	ENSP00000299440:p.Ile113Val						p.I113V	NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN			2	449	+	all_lung(20;0.226)	all_hematologic(20;0.107)	113			Interaction with importin alpha-1.		E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.337A>G	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	A	14.23	2.473434	0.43942	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	T;T	0.73897	-0.79;-0.79	6.14	6.14	0.99180	.	0.120828	0.56097	D	0.000035	D	0.83575	0.5284	M	0.75150	2.29	0.42510	D	0.992965	P	0.42409	0.779	P	0.53266	0.722	D	0.85289	0.1066	10	0.87932	D	0	.	16.806	0.85666	1.0:0.0:0.0:0.0	.	113	P15918	RAG1_HUMAN	V	113	ENSP00000434610:I113V;ENSP00000299440:I113V	ENSP00000299440:I113V	I	+	1	0	RAG1	36551767	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	2.214000	0.42853	2.367000	0.80283	0.529000	0.55759	ATC		0.443	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		29	37	0	0	0	1	0	29	37				
LENG8	114823	broad.mit.edu	37	19	54965662	54965662	+	Silent	SNP	G	G	A			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr19:54965662G>A	ENST00000326764.5	+	6	959	c.480G>A	c.(478-480)caG>caA	p.Q160Q	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	123										breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		CCCCTCAGCAGCTGCCGTCGG	0.657																																						ENST00000326764.5																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(478-480)caG>caA		leukocyte receptor cluster (LRC) member 8							32.0	35.0	34.0					19																	54965662		2203	4300	6503	SO:0001819	synonymous_variant	114823						protein binding	g.chr19:54965662G>A	AF211975	CCDS12894.1	19q13.4	2008-02-05			ENSG00000167615	ENSG00000167615			15500	protein-coding gene	gene with protein product						10941842	Standard	XM_005278248		Approved	KIAA1932, MGC40108, pp13842	uc002qfw.2	Q96PV6	OTTHUMG00000065548	ENST00000326764.5:c.480G>A	19.37:g.54965662G>A						LENG8_ENST00000376514.2_Intron	p.Q160Q	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN		GBM - Glioblastoma multiforme(193;0.139)	6	959	+	Ovarian(34;0.19)		123					B0VJY9|Q8IZ27|Q8NCX6	Silent	SNP	ENST00000326764.5	37	c.480G>A	CCDS12894.1																																																																																				0.657	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140523.2	NM_052925		3	28	0	0	0	1	0	3	28				
MUC6	4588	broad.mit.edu	37	11	1029109	1029109	+	Silent	SNP	G	G	A			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr11:1029109G>A	ENST00000421673.2	-	11	1367	c.1317C>T	c.(1315-1317)taC>taT	p.Y439Y		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	439	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGGACTTGTCGTACACAGCCA	0.697																																						ENST00000421673.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(1315-1317)taC>taT		mucin 6, oligomeric mucus/gel-forming							42.0	48.0	46.0					11																	1029109		2092	4204	6296	SO:0001819	synonymous_variant	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1029109G>A	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.1317C>T	11.37:g.1029109G>A							p.Y439Y	NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	11	1367	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	439			VWFD 2.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	c.1317C>T	CCDS44513.1																																																																																				0.697	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		6	17	0	0	0	1	0	6	17				
SLC27A5	10998	broad.mit.edu	37	19	59012735	59012735	+	Missense_Mutation	SNP	A	A	T			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr19:59012735A>T	ENST00000263093.2	-	4	1209	c.1100T>A	c.(1099-1101)tTc>tAc	p.F367Y	SLC27A5_ENST00000601355.1_Missense_Mutation_p.F283Y|SLC27A5_ENST00000594786.1_5'Flank|SLC27A5_ENST00000599700.1_5'Flank	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	367					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		GTCATCCCAGAAGCAGGAAGT	0.532																																						ENST00000263093.2																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(1099-1101)tTc>tAc		solute carrier family 27 (fatty acid transporter), member 5							86.0	85.0	86.0					19																	59012735		2203	4300	6503	SO:0001583	missense	10998				bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity	g.chr19:59012735A>T	AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10999	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 3"""	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.1100T>A	19.37:g.59012735A>T	ENSP00000263093:p.Phe367Tyr					SLC27A5_ENST00000601355.1_Missense_Mutation_p.F283Y	p.F367Y	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)	4	1209	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	367					B3KVP6|B4DPQ1	Missense_Mutation	SNP	ENST00000263093.2	37	c.1100T>A	CCDS12983.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.475268	0.84640	.	.	ENSG00000083807	ENST00000263093	T	0.42900	0.96	4.9	3.87	0.44632	AMP-dependent synthetase/ligase (1);	0.110859	0.64402	N	0.000008	T	0.47655	0.1457	M	0.64676	1.99	0.34566	D	0.712878	P	0.35944	0.529	P	0.46585	0.521	T	0.58885	-0.7557	10	0.45353	T	0.12	-23.1816	8.258	0.31769	0.8237:0.0:0.0:0.1763	.	367	Q9Y2P5	S27A5_HUMAN	Y	367	ENSP00000263093:F367Y	ENSP00000263093:F367Y	F	-	2	0	SLC27A5	63704547	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	6.172000	0.71932	0.795000	0.33922	0.460000	0.39030	TTC		0.532	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467060.1	NM_012254		22	49	0	0	0	1	0	22	49				
ARF1	375	broad.mit.edu	37	1	228284842	228284842	+	Silent	SNP	C	C	T			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr1:228284842C>T	ENST00000541182.1	+	2	289	c.27C>T	c.(25-27)ttC>ttT	p.F9F	ARF1_ENST00000478424.1_3'UTR|ARF1_ENST00000272102.5_Silent_p.F9F|ARF1_ENST00000540651.1_Silent_p.F9F|MIR3620_ENST00000584469.1_RNA	NM_001024227.1|NM_001024228.1	NP_001019398.1|NP_001019399.1	P84077	ARF1_HUMAN	ADP-ribosylation factor 1	9					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular copper ion homeostasis (GO:0006878)|COPI coating of Golgi vesicle (GO:0048205)|dendritic spine organization (GO:0097061)|GTP catabolic process (GO:0006184)|long term synaptic depression (GO:0060292)|membrane organization (GO:0061024)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)|regulation of defense response to virus by virus (GO:0050690)|regulation of receptor internalization (GO:0002090)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10		Prostate(94;0.0405)				CCAACCTCTTCAAGGGCCTTT	0.542																																						ENST00000541182.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10						c.(25-27)ttC>ttT		ADP-ribosylation factor 1							118.0	98.0	105.0					1																	228284842		2203	4300	6503	SO:0001819	synonymous_variant	375				cellular copper ion homeostasis|COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|protein transport|regulation of defense response to virus by virus|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction|viral reproduction	cytosol|Golgi membrane|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding|receptor signaling protein activity	g.chr1:228284842C>T	M84326	CCDS1565.1	1q42.13	2014-01-30			ENSG00000143761	ENSG00000143761		"""ADP-ribosylation factors"", ""Endogenous ligands"""	652	protein-coding gene	gene with protein product		103180				1577740	Standard	NM_001658		Approved		uc001hrr.3	P84077	OTTHUMG00000037595	ENST00000541182.1:c.27C>T	1.37:g.228284842C>T						ARF1_ENST00000272102.5_Silent_p.F9F|ARF1_ENST00000540651.1_Silent_p.F9F|ARF1_ENST00000478424.1_3'UTR	p.F9F	NM_001024227.1|NM_001024228.1	NP_001019398.1|NP_001019399.1	P84077	ARF1_HUMAN			2	289	+		Prostate(94;0.0405)	9					P10947|P32889	Silent	SNP	ENST00000541182.1	37	c.27C>T	CCDS1565.1																																																																																				0.542	ARF1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091650.1	NM_001024227		28	68	0	0	0	1	0	28	68				
SBF2	81846	broad.mit.edu	37	11	9838385	9838385	+	Splice_Site	SNP	A	A	G			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr11:9838385A>G	ENST00000256190.8	-	29	4116		c.e29+1			NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2						cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		AAGAAATCTTACCCTTAGTTG	0.403																																						ENST00000256190.8																			0				breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.e29+1		SET binding factor 2							73.0	61.0	65.0					11																	9838385		2201	4294	6495	SO:0001630	splice_region_variant	81846				myelination	cytoplasm|membrane	phosphatase activity|protein binding	g.chr11:9838385A>G	AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.3978+1T>C	11.37:g.9838385A>G								NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN		all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)	29	4116	-								Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Splice_Site	SNP	ENST00000256190.8	37		CCDS31427.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.409863	0.83340	.	.	ENSG00000133812	ENST00000256190;ENST00000530741	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5179	0.75840	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SBF2	9794961	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.071000	0.62044	0.460000	0.39030	.		0.403	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962	Intron	14	34	0	0	0	1	0	14	34				
CEP192	55125	broad.mit.edu	37	18	13049296	13049296	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr18:13049296G>T	ENST00000325971.8	+	14	2311	c.718G>T	c.(718-720)Gca>Tca	p.A240S	CEP192_ENST00000430049.2_Missense_Mutation_p.A361S|CEP192_ENST00000506447.1_Missense_Mutation_p.A836S			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	240					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AAGTGTGAGGGCACCAGAAGA	0.388																																						ENST00000506447.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2506-2508)Gca>Tca		centrosomal protein 192kDa							111.0	106.0	108.0					18																	13049296		2203	4300	6503	SO:0001583	missense	55125							g.chr18:13049296G>T	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.718G>T	18.37:g.13049296G>T	ENSP00000317156:p.Ala240Ser					CEP192_ENST00000325971.8_Missense_Mutation_p.A240S|CEP192_ENST00000430049.2_Missense_Mutation_p.A361S	p.A836S	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN			16	2586	+			431					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37	c.2506G>T		.	.	.	.	.	.	.	.	.	.	G	5.534	0.283400	0.10458	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.05925	3.39;3.37;3.37	5.37	3.53	0.40419	.	0.470805	0.17739	N	0.163604	T	0.02970	0.0088	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.46219	-0.9207	10	0.20046	T	0.44	-2.5494	5.5831	0.17260	0.0772:0.4024:0.3968:0.1236	.	361;836;240	C9JT09;E9PF99;Q8TEP8	.;.;CE192_HUMAN	S	836;240;240;361	ENSP00000427550:A836S;ENSP00000317156:A240S;ENSP00000389190:A361S	ENSP00000317156:A240S	A	+	1	0	CEP192	13039296	0.019000	0.18553	0.011000	0.14972	0.151000	0.21798	0.940000	0.28992	0.678000	0.31325	0.650000	0.86243	GCA		0.388	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		14	53	1	0	1.15088e-07	1	1.28627e-07	14	53				
CHST12	55501	broad.mit.edu	37	7	2473204	2473204	+	Silent	SNP	G	G	A			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr7:2473204G>A	ENST00000258711.6	+	2	1065	c.930G>A	c.(928-930)ccG>ccA	p.P310P		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	310					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|chondroitin 4-sulfotransferase activity (GO:0047756)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		TGCTGGACCCGCACACGGAGA	0.657																																						ENST00000258711.6																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(928-930)ccG>ccA		carbohydrate (chondroitin 4) sulfotransferase 12							40.0	44.0	43.0					7																	2473204		2203	4300	6503	SO:0001819	synonymous_variant	55501				dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding	g.chr7:2473204G>A	AF239822	CCDS5333.1	7p22	2007-03-14			ENSG00000136213	ENSG00000136213	2.8.2.5	"""Sulfotransferases, membrane-bound"""	17423	protein-coding gene	gene with protein product		610129				10781601	Standard	NM_018641		Approved	C4S-2, C4ST2	uc021zyu.1	Q9NRB3	OTTHUMG00000023849	ENST00000258711.6:c.930G>A	7.37:g.2473204G>A							p.P310P	NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)	2	1065	+		Ovarian(82;0.0253)	310					A4D1Z9|Q502W3|Q9NXY7	Silent	SNP	ENST00000258711.6	37	c.930G>A	CCDS5333.1																																																																																				0.657	CHST12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060170.3	NM_018641		23	52	0	0	0	1	0	23	52				
RUSC1	23623	broad.mit.edu	37	1	155296881	155296881	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr1:155296881C>T	ENST00000368352.5	+	8	2523	c.2372C>T	c.(2371-2373)cCt>cTt	p.P791L	RUSC1_ENST00000292254.4_Missense_Mutation_p.P322L|RUSC1_ENST00000462780.1_3'UTR|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1_ENST00000368354.3_Missense_Mutation_p.P685L|RUSC1_ENST00000368347.4_Missense_Mutation_p.P381L|RUSC1_ENST00000368349.4_Missense_Mutation_p.P322L|RUSC1-AS1_ENST00000443642.1_RNA	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	791					positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			TTTGGAGTGCCTGGGGGCCCC	0.562																																						ENST00000368352.5																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21						c.(2371-2373)cCt>cTt		RUN and SH3 domain containing 1							41.0	50.0	47.0					1																	155296881		2160	4274	6434	SO:0001583	missense	23623					cytoplasm|nucleolus	SH3/SH2 adaptor activity	g.chr1:155296881C>T	AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.2372C>T	1.37:g.155296881C>T	ENSP00000357336:p.Pro791Leu					RUSC1_ENST00000368354.3_Missense_Mutation_p.P685L|RUSC1_ENST00000368349.4_Missense_Mutation_p.P322L|RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000292254.4_Missense_Mutation_p.P322L|RUSC1_ENST00000368347.4_Missense_Mutation_p.P381L	p.P791L	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		8	2523	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		791					B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Missense_Mutation	SNP	ENST00000368352.5	37	c.2372C>T	CCDS41410.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.257787	0.39896	.	.	ENSG00000160753	ENST00000368354;ENST00000368352;ENST00000368347;ENST00000368349;ENST00000292254	T;T;T;T;T	0.32023	1.92;1.9;1.47;1.49;1.49	4.9	3.99	0.46301	.	33.929500	0.00520	N	0.000191	T	0.34948	0.0915	L	0.57536	1.79	0.43050	D	0.994652	B;P;B;D;P;B;B	0.57257	0.418;0.554;0.418;0.979;0.736;0.128;0.22	B;B;B;P;B;B;B	0.54270	0.069;0.145;0.069;0.747;0.159;0.046;0.05	T	0.14008	-1.0488	10	0.66056	D	0.02	-7.4468	10.5429	0.45043	0.0:0.9092:0.0:0.0908	.	289;322;322;216;381;290;791	B4DQB8;Q9BVN2-2;Q5T9U9;B3KWM9;Q5T9V0;Q9BT86;Q9BVN2	.;.;.;.;.;.;RUSC1_HUMAN	L	685;791;381;322;322	ENSP00000357338:P685L;ENSP00000357336:P791L;ENSP00000357331:P381L;ENSP00000357333:P322L;ENSP00000292254:P322L	ENSP00000292254:P322L	P	+	2	0	RUSC1	153563505	0.442000	0.25633	0.976000	0.42696	0.008000	0.06430	0.970000	0.29383	1.439000	0.47511	-0.218000	0.12543	CCT		0.562	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039071.1			20	41	0	0	0	1	0	20	41				
C7orf60	154743	broad.mit.edu	37	7	112462373	112462373	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr7:112462373G>A	ENST00000297145.4	-	5	809	c.644C>T	c.(643-645)gCa>gTa	p.A215V	C7orf60_ENST00000485446.1_5'Flank	NM_152556.2	NP_689769.2	Q1RMZ1	BMT2_HUMAN	chromosome 7 open reading frame 60	215							rRNA (adenine) methyltransferase activity (GO:0016433)			breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						AGCATCCTGTGCAAGCTGGAG	0.388																																						ENST00000297145.4																			0				breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						c.(643-645)gCa>gTa		chromosome 7 open reading frame 60							43.0	44.0	44.0					7																	112462373		1860	4102	5962	SO:0001583	missense	154743							g.chr7:112462373G>A		CCDS43634.1	7q31.1	2011-01-11	2008-06-19		ENSG00000164603	ENSG00000164603			26475	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31818"""						Standard	NM_152556		Approved	DKFZp762M126, FLJ31818	uc003vgo.1	Q1RMZ1	OTTHUMG00000155233	ENST00000297145.4:c.644C>T	7.37:g.112462373G>A	ENSP00000297145:p.Ala215Val						p.A215V	NM_152556.2	NP_689769.2	Q1RMZ1	CG060_HUMAN			5	809	-			215					Q8N3D0|Q96MV7	Missense_Mutation	SNP	ENST00000297145.4	37	c.644C>T	CCDS43634.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.129141	0.77549	.	.	ENSG00000164603	ENST00000297145;ENST00000432572;ENST00000358032	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.77791	0.4183	L	0.57536	1.79	0.80722	D	1	D;D	0.69078	0.997;0.984	D;P	0.75020	0.985;0.829	T	0.78214	-0.2291	9	0.72032	D	0.01	-10.0621	20.0044	0.97430	0.0:0.0:1.0:0.0	.	162;215	B4DST1;Q1RMZ1	.;CG060_HUMAN	V	215;197;162	.	ENSP00000297145:A215V	A	-	2	0	C7orf60	112249609	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.714000	0.92807	0.650000	0.86243	GCA		0.388	C7orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338923.1	NM_152556		20	31	0	0	0	1	0	20	31				
CACNA1C	775	broad.mit.edu	37	12	2622020	2622020	+	Missense_Mutation	SNP	T	T	A			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr12:2622020T>A	ENST00000347598.4	+	9	1260	c.1260T>A	c.(1258-1260)gaT>gaA	p.D420E	CACNA1C_ENST00000399603.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000406454.3_Missense_Mutation_p.D420E|CACNA1C_ENST00000399621.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399638.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399637.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399617.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399649.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000399606.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399595.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399601.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399644.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399629.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000480911.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000344100.3_Missense_Mutation_p.D420E|CACNA1C_ENST00000399591.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000402845.3_Missense_Mutation_p.D420E|CACNA1C_ENST00000399655.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399597.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399641.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399634.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000327702.7_Missense_Mutation_p.D420E|CACNA1C_ENST00000335762.5_Missense_Mutation_p.D420E	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	420					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCCGGGGAGATTTCCAGAAGC	0.567																																						ENST00000399655.1																			0				NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132						c.(1258-1260)gaT>gaA		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						29.0	35.0	33.0					12																	2622020		2143	4267	6410	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2622020T>A	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.1260T>A	12.37:g.2622020T>A	ENSP00000266376:p.Asp420Glu					CACNA1C_ENST00000399637.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399595.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399617.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000335762.5_Missense_Mutation_p.D420E|CACNA1C_ENST00000399606.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399629.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399638.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399591.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399603.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399634.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000406454.3_Missense_Mutation_p.D420E|CACNA1C_ENST00000480911.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399601.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000347598.4_Missense_Mutation_p.D420E|CACNA1C_ENST00000399649.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000402845.3_Missense_Mutation_p.D420E|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000399644.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000399597.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000344100.3_Missense_Mutation_p.D420E|CACNA1C_ENST00000399621.1_Missense_Mutation_p.D420E|CACNA1C_ENST00000327702.7_Missense_Mutation_p.D420E|CACNA1C_ENST00000399641.1_Missense_Mutation_p.D420E	p.D420E	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	9	1525	+			420					B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.1260T>A	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	T	15.86	2.957016	0.53293	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97352	-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35	4.67	-1.97	0.07503	.	0.046376	0.85682	D	0.000000	D	0.95818	0.8639	L	0.31476	0.935	0.46725	D	0.999171	B;D;D;B;D;D;D;D;B;P;D;D;B;D;D;D;D;P;D;P;D;D;D;D;D	0.76494	0.141;0.999;0.996;0.169;0.957;0.998;0.996;0.998;0.014;0.907;0.998;0.996;0.074;0.996;0.994;0.996;0.996;0.699;0.993;0.494;0.996;0.998;0.998;0.996;0.996	B;D;D;B;D;D;D;D;B;P;D;D;B;D;D;D;D;B;D;B;D;D;D;D;D	0.81914	0.155;0.994;0.99;0.084;0.96;0.995;0.99;0.995;0.174;0.664;0.995;0.99;0.219;0.995;0.978;0.99;0.987;0.174;0.975;0.174;0.987;0.995;0.995;0.987;0.99	D	0.92073	0.5666	10	0.24483	T	0.36	.	11.8398	0.52346	0.0:0.5324:0.0:0.4676	.	49;420;417;420;420;420;420;420;420;420;420;420;391;420;420;420;420;420;420;420;420;420;420;420;420	Q5V9X8;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	E	420;420;420;420;420;420;420;420;420;420;420;420;420;420;420;420;420;420;420;420;420;420;420;261	ENSP00000336982:D420E;ENSP00000382563:D420E;ENSP00000437936:D420E;ENSP00000382552:D420E;ENSP00000382547:D420E;ENSP00000382506:D420E;ENSP00000382530:D420E;ENSP00000382546:D420E;ENSP00000382500:D420E;ENSP00000382549:D420E;ENSP00000266376:D420E;ENSP00000382515:D420E;ENSP00000382510:D420E;ENSP00000341092:D420E;ENSP00000382537:D420E;ENSP00000329877:D420E;ENSP00000382557:D420E;ENSP00000385724:D420E;ENSP00000382512:D420E;ENSP00000382542:D420E;ENSP00000382526:D420E;ENSP00000385896:D420E;ENSP00000382504:D420E	ENSP00000323129:D261E	D	+	3	2	CACNA1C	2492281	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	0.829000	0.27449	-0.196000	0.10366	-0.290000	0.09829	GAT		0.567	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		3	14	0	0	0	1	0	3	14				
CDC20	991	broad.mit.edu	37	1	43825955	43825955	+	Frame_Shift_Del	DEL	C	C	-			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr1:43825955delC	ENST00000372462.1	+	5	851	c.648delC	c.(646-648)atcfs	p.I216fs	CDC20_ENST00000478882.1_3'UTR|CDC20_ENST00000310955.6_Frame_Shift_Del_p.I216fs|RP1-92O14.3_ENST00000424948.1_RNA			Q12834	CDC20_HUMAN	cell division cycle 20	216					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle (GO:0007049)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein ubiquitination (GO:0016567)|regulation of dendrite development (GO:0050773)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|spindle (GO:0005819)	enzyme binding (GO:0019899)|protein C-terminus binding (GO:0008022)			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CTGGTGACATCCTGCAGCTTT	0.537																																					Esophageal Squamous(137;1154 1759 10362 10401 46925)	ENST00000372462.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15						c.(646-648)atfs		cell division cycle 20							132.0	129.0	130.0					1																	43825955		2203	4300	6503	SO:0001589	frameshift_variant	991				activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding	g.chr1:43825955delC	U05340	CCDS484.1	1p34.1	2013-01-17	2013-01-17		ENSG00000117399	ENSG00000117399		"""WD repeat domain containing"""	1723	protein-coding gene	gene with protein product		603618	"""CDC20 (cell division cycle 20, S. cerevisiae, homolog)"", ""CDC20 cell division cycle 20 homolog (S. cerevisiae)"", ""cell division cycle 20 homolog (S. cerevisiae)"""			7513050, 9353311	Standard	NM_001255		Approved	p55CDC, CDC20A	uc001cix.3	Q12834	OTTHUMG00000007420	ENST00000372462.1:c.648delC	1.37:g.43825955delC	ENSP00000361540:p.Ile216fs					CDC20_ENST00000478882.1_3'UTR|CDC20_ENST00000310955.6_Frame_Shift_Del_p.I216fs	p.I216fs			Q12834	CDC20_HUMAN			5	851	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	216					B2R6Z6|D3DPJ1|Q5JUY4|Q9BW56|Q9UQI9	Frame_Shift_Del	DEL	ENST00000372462.1	37	c.648delC	CCDS484.1																																																																																				0.537	CDC20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019488.1	NM_001255		26	46						26	46	---	---	---	---
NSL1	25936	broad.mit.edu	37	1	212964929	212964930	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr1:212964929_212964930insTT	ENST00000366977.3	-	1	194_195	c.176_177insAA	c.(175-177)aagfs	p.K59fs	TATDN3_ENST00000526641.1_5'Flank|TATDN3_ENST00000366974.4_5'Flank|NSL1_ENST00000366975.6_Frame_Shift_Ins_p.K59fs|TATDN3_ENST00000366973.4_5'Flank|TATDN3_ENST00000532324.1_5'Flank|NSL1_ENST00000473995.1_5'UTR|NSL1_ENST00000422588.2_Frame_Shift_Ins_p.K59fs|NSL1_ENST00000366978.1_5'Flank|TATDN3_ENST00000526997.1_5'Flank|TATDN3_ENST00000530441.1_5'Flank|TATDN3_ENST00000531963.1_5'Flank|NSL1_ENST00000366976.1_Frame_Shift_Ins_p.K59fs	NM_015471.3	NP_056286.3	Q96IY1	NSL1_HUMAN	NSL1, MIS12 kinetochore complex component	59					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|MIS12/MIND type complex (GO:0000444)|nucleus (GO:0005634)				breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)		CGTCCCCGAGCTTTTGCACGAA	0.609																																						ENST00000366977.3																			0				breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9						c.(175-177)actfs		NSL1, MIS12 kinetochore complex component																																				SO:0001589	frameshift_variant	25936				cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding	g.chr1:212964929_212964930insTT	AF255793	CCDS1509.1, CCDS73025.1	1q41	2013-07-03	2013-07-03	2006-11-07	ENSG00000117697	ENSG00000117697			24548	protein-coding gene	gene with protein product		609174	"""chromosome 1 open reading frame 48"", ""NSL1, MIND kinetochore complex component, homolog (S. cerevisiae)"""	C1orf48		20819937	Standard	NM_015471		Approved	DC8, DKFZP566O1646, MIS14	uc001hjn.3	Q96IY1	OTTHUMG00000036806	ENST00000366977.3:c.175_176dupAA	1.37:g.212964932_212964933dupTT	ENSP00000355944:p.Lys59fs					NSL1_ENST00000473995.1_5'UTR|NSL1_ENST00000366975.6_Frame_Shift_Ins_p.T59fs|NSL1_ENST00000422588.2_Frame_Shift_Ins_p.T59fs|NSL1_ENST00000366976.1_Frame_Shift_Ins_p.T59fs	p.T59fs	NM_015471.3	NP_056286.3	Q96IY1	NSL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)	1	194_195	-			59					E7ETD5|Q5SY75|Q9H2M5|Q9NRN8|Q9Y415	Frame_Shift_Ins	INS	ENST00000366977.3	37	c.176_177insAA	CCDS1509.1																																																																																				0.609	NSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089398.2	NM_015471		32	165						32	165	---	---	---	---
FBXO38	81545	broad.mit.edu	37	5	147803625	147803626	+	Frame_Shift_Ins	INS	-	-	A			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr5:147803625_147803626insA	ENST00000340253.5	+	13	1851_1852	c.1683_1684insA	c.(1684-1686)actfs	p.T562fs	FBXO38_ENST00000296701.6_Frame_Shift_Ins_p.T562fs|FBXO38_ENST00000513826.1_Frame_Shift_Ins_p.T562fs|FBXO38_ENST00000394370.3_Frame_Shift_Ins_p.T562fs			Q6PIJ6	FBX38_HUMAN	F-box protein 38	562					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGAAATAATACTCCAGCTCA	0.426																																						ENST00000340253.5																		ATG4C/FBXO38(2)	0				NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51						c.(1681-1686)aactccfs		F-box protein 38																																				SO:0001589	frameshift_variant	81545					cytoplasm|nucleus		g.chr5:147803625_147803626insA	BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"""F-boxes /  ""other"""""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.1684dupA	5.37:g.147803626_147803626dupA	ENSP00000342023:p.Thr562fs					FBXO38_ENST00000394370.3_Frame_Shift_Ins_p.NS561fs|FBXO38_ENST00000296701.6_Frame_Shift_Ins_p.NS561fs|FBXO38_ENST00000513826.1_Frame_Shift_Ins_p.NS561fs	p.NS561fs			Q6PIJ6	FBX38_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		13	1851_1852	+			561					Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Frame_Shift_Ins	INS	ENST00000340253.5	37	c.1683_1684insA																																																																																					0.426	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793		36	44						36	44	---	---	---	---
MROH5	389690	broad.mit.edu	37	8	142483100	142483101	+	RNA	INS	-	-	C			TCGA-YL-A8S8-01A-11D-A377-08	TCGA-YL-A8S8-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c120cb6-8347-4d01-a96c-ff638871d08d	3615236e-5eaf-49d1-b864-d08c3bd3e65c	g.chr8:142483100_142483101insC	ENST00000430863.1	-	0	1845					NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5																		GGGgccctcggcccaggccccg	0.748																																						ENST00000430863.1																			0													maestro heat-like repeat family member 5																																						389690							g.chr8:142483100_142483101insC			8q24.3	2012-12-20			ENSG00000226807	ENSG00000226807		"""maestro heat-like repeat containing"""	42976	protein-coding gene	gene with protein product							Standard	NM_207414		Approved	FLJ43860	uc003ywi.2	Q6ZUA9	OTTHUMG00000155944		8.37:g.142483103_142483103dupC								NM_207414.2	NP_997297.2					0	1845	-									RNA	INS	ENST00000430863.1	37																																																																																						0.748	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000342412.4	NM_207414		3	3						3	3	---	---	---	---
