#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
MYO1E	4643	broad.mit.edu	37	15	59564611	59564611	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr15:59564611T>G	ENST00000288235.4	-	2	440	c.41A>C	c.(40-42)cAc>cCc	p.H14P	RP11-429D19.1_ENST00000560248.1_RNA	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	14					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)	p.H14P(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		CTTGACATTGTGGCTTTGCCA	0.438																																						ENST00000288235.4																			1	Substitution - Missense(1)	p.H14P(1)	prostate(1)	breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33						c.(40-42)cAc>cCc		myosin IE							177.0	150.0	159.0					15																	59564611		2190	4290	6480	SO:0001583	missense	4643				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity	g.chr15:59564611T>G	U14391	CCDS32254.1	15q21-q22	2011-09-27				ENSG00000157483		"""Myosins / Myosin superfamily : Class I"""	7599	protein-coding gene	gene with protein product	"""myosin-IC"""	601479				8884266	Standard	NM_004998		Approved	MYO1C, HuncM-IC, MGC104638	uc002aga.4	Q12965		ENST00000288235.4:c.41A>C	15.37:g.59564611T>G	ENSP00000288235:p.His14Pro						p.H14P	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN		all cancers(107;0.207)	2	440	-			14			Myosin head-like.		Q14778	Missense_Mutation	SNP	ENST00000288235.4	37	c.41A>C	CCDS32254.1	.	.	.	.	.	.	.	.	.	.	T	16.75	3.210364	0.58343	.	.	ENSG00000157483	ENST00000288235	D	0.95171	-3.63	5.21	5.21	0.72293	Myosin head, motor domain (1);	0.000000	0.85682	D	0.000000	D	0.93779	0.8011	L	0.60455	1.87	0.80722	D	1	P	0.48016	0.904	P	0.46362	0.514	D	0.93345	0.6713	10	0.41790	T	0.15	.	15.0808	0.72113	0.0:0.0:0.0:1.0	.	14	Q12965	MYO1E_HUMAN	P	14	ENSP00000288235:H14P	ENSP00000288235:H14P	H	-	2	0	MYO1E	57351903	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	8.040000	0.89188	1.970000	0.57323	0.533000	0.62120	CAC		0.438	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416024.1	NM_004998		62	131	0	0	0	0.870114	0	62	131				
SLC35F1	222553	broad.mit.edu	37	6	118598702	118598702	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr6:118598702G>A	ENST00000360388.4	+	6	1041	c.840G>A	c.(838-840)tgG>tgA	p.W280*		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	280					transport (GO:0006810)	integral component of membrane (GO:0016021)		p.W280*(1)		breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		CCTGGGACTGGCAAATAGGTA	0.433																																						ENST00000360388.4																			1	Substitution - Nonsense(1)	p.W280*(1)	lung(1)	breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(838-840)tgG>tgA		solute carrier family 35, member F1							196.0	181.0	186.0					6																	118598702		2203	4300	6503	SO:0001587	stop_gained	222553				transport	integral to membrane		g.chr6:118598702G>A	BC028615	CCDS34524.1	6q22.31	2013-05-22			ENSG00000196376	ENSG00000196376		"""Solute carriers"""	21483	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 169"""	C6orf169			Standard	NM_001029858		Approved	dJ230I3.1	uc003pxx.4	Q5T1Q4	OTTHUMG00000015460	ENST00000360388.4:c.840G>A	6.37:g.118598702G>A	ENSP00000353557:p.Trp280*						p.W280*	NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN		GBM - Glioblastoma multiforme(226;0.217)	6	1041	+			280					E1P564|Q1RMG1|Q4G0U9|Q4G167|Q6N007	Nonsense_Mutation	SNP	ENST00000360388.4	37	c.840G>A	CCDS34524.1	.	.	.	.	.	.	.	.	.	.	G	37	6.267406	0.97426	.	.	ENSG00000196376	ENST00000360388	.	.	.	4.75	4.75	0.60458	.	0.128103	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-3.8629	18.2865	0.90115	0.0:0.0:1.0:0.0	.	.	.	.	X	280	.	ENSP00000353557:W280X	W	+	3	0	SLC35F1	118705395	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	8.727000	0.91480	2.621000	0.88768	0.650000	0.86243	TGG		0.433	SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041991.2	XM_167044		4	242	0	0	0	0.217242	0	4	242				
ITFG1	81533	broad.mit.edu	37	16	47189690	47189690	+	Splice_Site	SNP	C	C	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr16:47189690C>A	ENST00000320640.6	-	18	2008		c.e18-1		RP11-329J18.2_ENST00000564705.1_RNA|RP11-329J18.2_ENST00000565694.1_RNA|ITFG1_ENST00000544001.2_Splice_Site|ITFG1_ENST00000568047.1_Splice_Site	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1							extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.?(1)		breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				CATCTGCTTTCTGAAAAAGAA	0.333																																						ENST00000320640.6																			1	Unknown(1)	p.?(1)	prostate(1)	breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.e18-1		integrin alpha FG-GAP repeat containing 1							124.0	134.0	131.0					16																	47189690		2202	4300	6502	SO:0001630	splice_region_variant	81533					extracellular region|integral to membrane		g.chr16:47189690C>A	AF503339	CCDS10728.1	16q12.1	2008-02-05			ENSG00000129636	ENSG00000129636			30697	protein-coding gene	gene with protein product	"""T cell immunomodulatory protein"""	611803				12598909	Standard	NM_030790		Approved	CDA08, TIP	uc002eet.3	Q8TB96	OTTHUMG00000133103	ENST00000320640.6:c.1780-1G>T	16.37:g.47189690C>A						RP11-329J18.2_ENST00000565694.1_RNA|ITFG1_ENST00000544001.2_Splice_Site|ITFG1_ENST00000568047.1_Splice_Site|RP11-329J18.2_ENST00000564705.1_RNA		NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN			18	2008	-		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)						Q96SR4|Q9BRE2|Q9H2V9	Splice_Site	SNP	ENST00000320640.6	37		CCDS10728.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.112497	0.77210	.	.	ENSG00000129636	ENST00000320640;ENST00000537184;ENST00000542691;ENST00000544001	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6105	0.91283	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ITFG1	45747191	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.864000	0.75494	2.470000	0.83445	0.563000	0.77884	.		0.333	ITFG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256768.3	NM_030790	Intron	132	275	1	0	4.54241e-80	0.870114	5.89923e-80	132	275				
RNF149	284996	broad.mit.edu	37	2	101924707	101924707	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr2:101924707C>T	ENST00000295317.3	-	1	451	c.344G>A	c.(343-345)cGt>cAt	p.R115H	MIR5696_ENST00000578474.1_RNA	NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149	115	PA.				cellular response to drug (GO:0035690)|negative regulation of MAPK cascade (GO:0043409)|regulation of protein stability (GO:0031647)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R115H(2)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						GCAGCCCCCACGAGCCACCAG	0.726																																					Colon(25;331 612 6521 7355 31028)	ENST00000295317.3																			2	Substitution - Missense(2)	p.R115H(2)	prostate(2)	breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						c.(343-345)cGt>cAt		ring finger protein 149							7.0	8.0	8.0					2																	101924707		2132	4179	6311	SO:0001583	missense	284996					integral to membrane	ligase activity|zinc ion binding	g.chr2:101924707C>T	AK074985	CCDS2051.1	2q12.1	2013-01-09			ENSG00000163162	ENSG00000163162		"""RING-type (C3HC4) zinc fingers"""	23137	protein-coding gene	gene with protein product							Standard	NM_173647		Approved	FLJ90504	uc002taz.2	Q8NC42	OTTHUMG00000130685	ENST00000295317.3:c.344G>A	2.37:g.101924707C>T	ENSP00000295317:p.Arg115His						p.R115H	NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN			1	451	-			115			PA.		Q53S14|Q8N5I8|Q8NBY5|Q8WUU3	Missense_Mutation	SNP	ENST00000295317.3	37	c.344G>A	CCDS2051.1	.	.	.	.	.	.	.	.	.	.	C	18.05	3.536432	0.65085	.	.	ENSG00000163162	ENST00000295317	T	0.12147	2.71	4.52	2.71	0.32032	Protease-associated domain, PA (1);	0.156339	0.31963	N	0.006792	T	0.25827	0.0629	H	0.97291	3.975	0.48632	D	0.999689	P	0.35411	0.5	B	0.24974	0.057	T	0.15263	-1.0443	10	0.66056	D	0.02	.	8.8667	0.35291	0.0:0.753:0.0:0.247	.	115	Q8NC42	RN149_HUMAN	H	115	ENSP00000295317:R115H	ENSP00000295317:R115H	R	-	2	0	RNF149	101291139	0.991000	0.36638	0.942000	0.38095	0.914000	0.54420	1.584000	0.36589	0.344000	0.23847	0.313000	0.20887	CGT		0.726	RNF149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253180.2	NM_173647		4	5	0	0	0	0.150653	0	4	5				
SPATA5L1	79029	broad.mit.edu	37	15	45695158	45695158	+	Silent	SNP	G	G	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr15:45695158G>A	ENST00000305560.6	+	1	630	c.531G>A	c.(529-531)ctG>ctA	p.L177L	GATM_ENST00000458245.5_5'Flank|SPATA5L1_ENST00000559860.1_Silent_p.L177L	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	177						cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.L177L(1)		kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		CCGCTGGGCTGGTCACCCCTC	0.731																																						ENST00000305560.6																			1	Substitution - coding silent(1)	p.L177L(1)	prostate(1)	kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						c.(529-531)ctG>ctA		spermatogenesis associated 5-like 1							13.0	16.0	15.0					15																	45695158		2154	4226	6380	SO:0001819	synonymous_variant	79029					cytoplasm	ATP binding|nucleoside-triphosphatase activity	g.chr15:45695158G>A	AK023232	CCDS10123.1	15q15.1	2010-04-21			ENSG00000171763	ENSG00000171763		"""ATPases / AAA-type"""	28762	protein-coding gene	gene with protein product						12477932	Standard	NM_024063		Approved	MGC5347, FLJ12286	uc001zve.3	Q9BVQ7	OTTHUMG00000131425	ENST00000305560.6:c.531G>A	15.37:g.45695158G>A						SPATA5L1_ENST00000559860.1_Silent_p.L177L	p.L177L	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)	1	630	+		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)	177					C9JHR5|Q9H8W7|Q9HA41	Silent	SNP	ENST00000305560.6	37	c.531G>A	CCDS10123.1																																																																																				0.731	SPATA5L1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254218.1	NM_024063		3	26	0	0	0	0.115264	0	3	26				
CR1L	1379	broad.mit.edu	37	1	207867727	207867727	+	Missense_Mutation	SNP	G	G	A	rs371954344		TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr1:207867727G>A	ENST00000508064.2	+	5	553	c.493G>A	c.(493-495)Gcc>Acc	p.A165T	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	165	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|receptor complex (GO:0043235)				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CCCCACCATCGCCAATGGAGA	0.423																																						ENST00000508064.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(493-495)Gcc>Acc		complement component (3b/4b) receptor 1-like		G	THR/ALA	1,3779		0,1,1889	86.0	81.0	83.0		493	-0.3	0.3	1		83	0,8228		0,0,4114	no	missense	CR1L	NM_175710.1	58	0,1,6003	AA,AG,GG		0.0,0.0265,0.0083	possibly-damaging	165/570	207867727	1,12007	1890	4114	6004	SO:0001583	missense	1379					cytoplasm|extracellular region|membrane		g.chr1:207867727G>A	AY114160	CCDS44310.1	1q32.1	2008-02-05			ENSG00000197721	ENSG00000197721		"""Complement system"""	2335	protein-coding gene	gene with protein product		605886				2295627	Standard	NM_175710		Approved		uc001hga.4	Q2VPA4	OTTHUMG00000036354	ENST00000508064.2:c.493G>A	1.37:g.207867727G>A	ENSP00000421736:p.Ala165Thr					CR1L_ENST00000530905.1_Intron	p.A165T	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN			5	553	+			165			Sushi 3.		Q32MC9|Q8NEU7	Missense_Mutation	SNP	ENST00000508064.2	37	c.493G>A	CCDS44310.1	.	.	.	.	.	.	.	.	.	.	G	5.760	0.324594	0.10900	2.65E-4	0.0	ENSG00000197721	ENST00000444269;ENST00000508064	T	0.64438	-0.1	1.86	-0.317	0.12736	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.34600	0.0903	N	0.21240	0.645	0.21220	N	0.999757	P	0.36712	0.566	B	0.29942	0.109	T	0.16305	-1.0407	9	0.13108	T	0.6	.	3.025	0.06087	0.2017:0.313:0.4853:0.0	.	165	Q2VPA4	CR1L_HUMAN	T	165	ENSP00000421736:A165T	ENSP00000434864:A109T	A	+	1	0	CR1L	205934350	0.000000	0.05858	0.333000	0.25482	0.418000	0.31294	-1.218000	0.02976	-0.080000	0.12685	0.305000	0.20034	GCC		0.423	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390247.1	XM_114735		5	141	0	0	0	0.184627	0	5	141				
DEK	7913	broad.mit.edu	37	6	18258550	18258550	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr6:18258550A>C	ENST00000397239.3	-	3	679	c.232T>G	c.(232-234)Ttt>Gtt	p.F78V	DEK_ENST00000244776.7_Intron	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK proto-oncogene	78					chromatin modification (GO:0016568)|regulation of double-strand break repair (GO:2000779)|regulation of double-strand break repair via nonhomologous end joining (GO:2001032)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)	p.F78V(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			GCAATTGTAAATGGCTCTCTC	0.363			T	NUP214	AML																																	ENST00000397239.3				Dom	yes		6	6p23	7913	T	DEK oncogene (DNA binding)			L	NUP214		AML		1	Substitution - Missense(1)	p.F78V(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(232-234)Ttt>Gtt		DEK oncogene							136.0	127.0	130.0					6																	18258550		2203	4300	6503	SO:0001583	missense	7913				chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|histone binding	g.chr6:18258550A>C	X64229	CCDS34344.1, CCDS47382.1	6p23	2014-06-25	2014-06-25		ENSG00000124795	ENSG00000124795			2768	protein-coding gene	gene with protein product		125264	"""DEK oncogene (DNA binding)"", ""DEK oncogene"""			1549122	Standard	NM_003472		Approved	D6S231E	uc003ncr.1	P35659	OTTHUMG00000014319	ENST00000397239.3:c.232T>G	6.37:g.18258550A>C	ENSP00000380414:p.Phe78Val					DEK_ENST00000244776.7_Intron	p.F78V	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)		3	679	-	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	78					B2R6K6|B4DN37|Q5TGV4|Q5TGV5	Missense_Mutation	SNP	ENST00000397239.3	37	c.232T>G	CCDS34344.1	.	.	.	.	.	.	.	.	.	.	A	9.748	1.166811	0.21621	.	.	ENSG00000124795	ENST00000397239;ENST00000503715;ENST00000515742	T;T;T	0.47177	0.85;0.87;0.95	5.84	5.84	0.93424	.	0.159331	0.64402	D	0.000018	T	0.41190	0.1148	L	0.37750	1.13	0.80722	D	1	D	0.57899	0.981	D	0.67900	0.954	T	0.33777	-0.9855	10	0.07990	T	0.79	-11.9348	14.7839	0.69787	1.0:0.0:0.0:0.0	.	78	P35659	DEK_HUMAN	V	78;11;83	ENSP00000380414:F78V;ENSP00000425399:F11V;ENSP00000423553:F83V	ENSP00000380414:F78V	F	-	1	0	DEK	18366529	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.634000	0.67833	2.220000	0.72140	0.482000	0.46254	TTT		0.363	DEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039962.4			56	186	0	0	0	0.870114	0	56	186				
RAB3GAP1	22930	broad.mit.edu	37	2	135922225	135922225	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr2:135922225G>A	ENST00000264158.8	+	23	2711	c.2668G>A	c.(2668-2670)Gct>Act	p.A890T	RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.A846T|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.A890T|ZRANB3_ENST00000412849.1_Intron	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	890					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.A890T(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		AAGAGGACATGCTGGCAGGAT	0.488																																						ENST00000264158.8																			1	Substitution - Missense(1)	p.A890T(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32						c.(2668-2670)Gct>Act		RAB3 GTPase activating protein subunit 1 (catalytic)							122.0	102.0	109.0					2																	135922225		2203	4300	6503	SO:0001583	missense	22930					centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding	g.chr2:135922225G>A	D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.2668G>A	2.37:g.135922225G>A	ENSP00000264158:p.Ala890Thr					RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.A846T|ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.A890T	p.A890T	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	23	2711	+			890					A6H8Z3|C9J837|Q659F5|Q8TBB4	Missense_Mutation	SNP	ENST00000264158.8	37	c.2668G>A	CCDS33294.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.981613	0.93044	.	.	ENSG00000115839	ENST00000264158;ENST00000539493;ENST00000442034	T;T;T	0.48522	0.82;0.81;0.82	4.97	4.97	0.65823	.	0.105878	0.64402	D	0.000005	T	0.53658	0.1810	L	0.56769	1.78	0.80722	D	1	P;P	0.47762	0.9;0.877	P;P	0.48400	0.576;0.494	T	0.48305	-0.9047	10	0.25106	T	0.35	-17.4122	18.4144	0.90563	0.0:0.0:1.0:0.0	.	890;890	C9J837;Q15042	.;RB3GP_HUMAN	T	890;846;890	ENSP00000264158:A890T;ENSP00000444306:A846T;ENSP00000411418:A890T	ENSP00000264158:A890T	A	+	1	0	RAB3GAP1	135638695	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.948000	0.75965	2.586000	0.87340	0.591000	0.81541	GCT		0.488	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337514.2	NM_012233		20	44	0	0	0	0.667858	0	20	44				
EFCAB7	84455	broad.mit.edu	37	1	63999825	63999825	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr1:63999825A>C	ENST00000371088.4	+	6	988	c.742A>C	c.(742-744)Aca>Cca	p.T248P	RNU7-123P_ENST00000515911.1_RNA	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	248			T -> I (in dbSNP:rs6693255). {ECO:0000269|PubMed:15489334}.				calcium ion binding (GO:0005509)	p.T248P(1)		breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						TGTTTCCTTCACAGTTACCAT	0.358																																						ENST00000371088.4																			1	Substitution - Missense(1)	p.T248P(1)	prostate(1)	breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						c.(742-744)Aca>Cca		EF-hand calcium binding domain 7							101.0	99.0	99.0					1																	63999825		2203	4300	6503	SO:0001583	missense	84455						calcium ion binding	g.chr1:63999825A>C	BC015814	CCDS30737.1	1p31.3	2013-01-10			ENSG00000203965	ENSG00000203965		"""EF-hand domain containing"""	29379	protein-coding gene	gene with protein product						11347906	Standard	NM_032437		Approved	KIAA1799, RP4-534K7.1	uc001dbf.3	A8K855	OTTHUMG00000008983	ENST00000371088.4:c.742A>C	1.37:g.63999825A>C	ENSP00000360129:p.Thr248Pro						p.T248P	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN			6	988	+			248		T -> I (in dbSNP:rs6693255).			Q658P0|Q96B95|Q96JM6	Missense_Mutation	SNP	ENST00000371088.4	37	c.742A>C	CCDS30737.1	.	.	.	.	.	.	.	.	.	.	A	9.920	1.211841	0.22289	.	.	ENSG00000203965	ENST00000371088	T	0.59083	0.29	5.65	4.46	0.54185	.	0.529823	0.23072	N	0.052243	T	0.38081	0.1027	L	0.47716	1.5	0.80722	D	1	P	0.45283	0.855	B	0.41571	0.36	T	0.48479	-0.9032	10	0.72032	D	0.01	-5.8298	9.6824	0.40078	0.8454:0.0:0.0:0.1546	.	248	A8K855	EFCB7_HUMAN	P	248	ENSP00000360129:T248P	ENSP00000360129:T248P	T	+	1	0	EFCAB7	63772413	0.553000	0.26513	0.997000	0.53966	0.472000	0.32918	4.268000	0.58883	2.146000	0.66826	0.533000	0.62120	ACA		0.358	EFCAB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024910.1	NM_032437		64	121	0	0	0	0.870114	0	64	121				
ERBB4	2066	broad.mit.edu	37	2	212251657	212251657	+	Silent	SNP	C	C	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr2:212251657C>A	ENST00000342788.4	-	27	3712	c.3402G>T	c.(3400-3402)gtG>gtT	p.V1134V	ERBB4_ENST00000436443.1_Silent_p.V1118V|ERBB4_ENST00000402597.1_Silent_p.V1124V	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1134					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.V1134V(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	CTGGGGCAAACACGGTGGGGT	0.522										TSP Lung(8;0.080)																												ENST00000342788.4																			1	Substitution - coding silent(1)	p.V1134V(1)	prostate(1)	NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179						c.(3400-3402)gtG>gtT		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4							156.0	140.0	145.0					2																	212251657		2203	4300	6503	SO:0001819	synonymous_variant	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212251657C>A	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.3402G>T	2.37:g.212251657C>A		TSP Lung(8;0.080)				ERBB4_ENST00000402597.1_Silent_p.V1124V|ERBB4_ENST00000436443.1_Silent_p.V1118V	p.V1134V	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	27	3712	-		Renal(323;0.06)|Lung NSC(271;0.197)	1134					B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Silent	SNP	ENST00000342788.4	37	c.3402G>T	CCDS2394.1																																																																																				0.522	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		54	124	1	0	1.93748e-29	0.870114	2.45251e-29	54	124				
CLCN2	1181	broad.mit.edu	37	3	184075851	184075851	+	Silent	SNP	G	G	T			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr3:184075851G>T	ENST00000265593.4	-	5	685	c.514C>A	c.(514-516)Cgg>Agg	p.R172R	EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000344937.7_Silent_p.R172R|CLCN2_ENST00000475279.1_5'Flank|CLCN2_ENST00000434054.2_Silent_p.R128R|CLCN2_ENST00000423355.2_5'UTR|CLCN2_ENST00000457512.1_Silent_p.R172R	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	172					cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	ACCACTCCCCGCAAGATGGTC	0.572																																						ENST00000265593.4																			0				breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(514-516)Cgg>Agg		chloride channel, voltage-sensitive 2	Lubiprostone(DB01046)						86.0	84.0	85.0					3																	184075851		2203	4300	6503	SO:0001819	synonymous_variant	1181					chloride channel complex	voltage-gated chloride channel activity	g.chr3:184075851G>T	S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"""Ion channels / Chloride channels : Voltage-sensitive"""	2020	protein-coding gene	gene with protein product		600570	"""chloride channel 2"""			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.514C>A	3.37:g.184075851G>T						CLCN2_ENST00000423355.2_5'UTR|CLCN2_ENST00000434054.2_Silent_p.R128R|CLCN2_ENST00000457512.1_Silent_p.R172R|CLCN2_ENST00000344937.7_Silent_p.R172R|EIF2B5_ENST00000444495.1_Intron	p.R172R	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		5	685	-	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		172					B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Silent	SNP	ENST00000265593.4	37	c.514C>A	CCDS3263.1																																																																																				0.572	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1			4	231	1	0	0.00909568	0.150653	0.00999525	4	231				
MIR654	724024	broad.mit.edu	37	14	101506035	101506035	+	RNA	SNP	G	G	T			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr14:101506035G>T	ENST00000385199.1	+	0	0				MIR376A1_ENST00000584362.1_RNA|MIR376C_ENST00000607441.1_RNA|MIR300_ENST00000401138.1_RNA|AL132709.2_ENST00000579587.1_RNA	NR_030390.1				microRNA 654																		TTAAAAGGTGGATATTCCTTC	0.383																																						ENST00000607441.1																			0																				106.0	93.0	97.0					14																	101506035		1568	3580	5148			0							g.chr14:101506035G>T			14q32.31	2011-09-12		2008-12-18	ENSG00000207934	ENSG00000207934		"""ncRNAs / Micro RNAs"""	32910	non-coding RNA	RNA, micro				MIRN654			Standard	NR_030390		Approved	hsa-mir-654	uc021sda.1				14.37:g.101506035G>T								NR_029861.1						0	19	+									RNA	SNP	ENST00000385199.1	37																																																																																						0.383	MIR654-201	KNOWN	basic	miRNA	miRNA		NR_030390		36	69	1	0	2.04263e-09	0.796494	2.43171e-09	36	69				
CLGN	1047	broad.mit.edu	37	4	141317358	141317358	+	Splice_Site	SNP	C	C	T			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr4:141317358C>T	ENST00000325617.5	-	9	1326	c.886G>A	c.(886-888)Gat>Aat	p.D296N	CLGN_ENST00000414773.1_Splice_Site_p.D296N|CLGN_ENST00000537281.1_Splice_Site_p.D296N	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	296					binding of sperm to zona pellucida (GO:0007339)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	calcium ion binding (GO:0005509)|unfolded protein binding (GO:0051082)	p.D296N(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					TCACTTTCATCCCTGTAAATA	0.338																																						ENST00000325617.5																			1	Substitution - Missense(1)	p.D296N(1)	prostate(1)	breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25						c.e9-1		calmegin							140.0	132.0	135.0					4																	141317358		2203	4300	6503	SO:0001630	splice_region_variant	1047				protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding	g.chr4:141317358C>T	D86322	CCDS3751.1	4q28.3-q31.1	2008-02-05			ENSG00000153132	ENSG00000153132			2060	protein-coding gene	gene with protein product		601858					Standard	NM_004362		Approved		uc003iii.3	O14967	OTTHUMG00000133414	ENST00000325617.5:c.885-1G>A	4.37:g.141317358C>T						CLGN_ENST00000537281.1_Splice_Site_p.D296_splice|CLGN_ENST00000414773.1_Splice_Site_p.D296_splice	p.D296_splice	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN			9	1326	-	all_hematologic(180;0.162)		296					B3KS90|B4DXV8|D3DNY8	Splice_Site	SNP	ENST00000325617.5	37	c.884_splice	CCDS3751.1	.	.	.	.	.	.	.	.	.	.	c	33	5.205872	0.95033	.	.	ENSG00000153132	ENST00000325617;ENST00000414773;ENST00000537281;ENST00000545667	T;T;T	0.55588	0.51;0.51;0.51	5.83	5.83	0.93111	Concanavalin A-like lectin/glucanase, subgroup (1);Calreticulin/calnexin, P (1);Calreticulin/calnexin, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.71576	0.3356	M	0.73319	2.225	0.80722	D	1	D	0.63880	0.993	D	0.63381	0.914	T	0.70189	-0.4940	10	0.48119	T	0.1	-28.6323	20.143	0.98065	0.0:1.0:0.0:0.0	.	296	O14967	CLGN_HUMAN	N	296;296;296;213	ENSP00000326699:D296N;ENSP00000392782:D296N;ENSP00000439381:D296N	ENSP00000326699:D296N	D	-	1	0	CLGN	141536808	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.773000	0.85462	2.763000	0.94921	0.550000	0.68814	GAT		0.338	CLGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257272.2	NM_004362	Missense_Mutation	63	246	0	0	0	0.870114	0	63	246				
KCNK4	50801	broad.mit.edu	37	11	64065643	64065643	+	Silent	SNP	C	C	T	rs143683020		TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr11:64065643C>T	ENST00000539216.1	+	5	1083	c.723C>T	c.(721-723)ctC>ctT	p.L241L	TEX40_ENST00000539943.1_5'Flank|Y_RNA_ENST00000384297.1_RNA|KCNK4_ENST00000539651.1_3'UTR|KCNK4_ENST00000422670.2_Silent_p.L241L|KCNK4_ENST00000538767.1_Missense_Mutation_p.R126W|RP11-783K16.10_ENST00000539086.1_RNA|TEX40_ENST00000328404.6_5'Flank|KCNK4_ENST00000394525.2_Silent_p.L241L			Q9NYG8	KCNK4_HUMAN	potassium channel, subfamily K, member 4	241					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.L241L(1)		breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						GGATCCTGCTCGGCCTGGCTT	0.637																																						ENST00000538767.1																			1	Substitution - coding silent(1)	p.L241L(1)	prostate(1)	breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						c.(376-378)Cgg>Tgg		potassium channel, subfamily K, member 4		C		2,4400	4.2+/-10.8	0,2,2199	46.0	41.0	43.0		723	-11.1	0.6	11	dbSNP_134	43	0,8594		0,0,4297	no	coding-synonymous	KCNK4	NM_033310.2		0,2,6496	TT,TC,CC		0.0,0.0454,0.0154		241/394	64065643	2,12994	2201	4297	6498	SO:0001819	synonymous_variant	50801					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr11:64065643C>T	AF247042	CCDS8067.1	11q13	2012-03-07			ENSG00000182450	ENSG00000182450		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6279	protein-coding gene	gene with protein product		605720				10767409, 16382106	Standard	NM_033310		Approved	K2p4.1, TRAAK	uc001nzk.1	Q9NYG8	OTTHUMG00000168006	ENST00000539216.1:c.723C>T	11.37:g.64065643C>T						KCNK4_ENST00000539651.1_3'UTR|KCNK4_ENST00000422670.2_Silent_p.L241L|KCNK4_ENST00000394525.2_Silent_p.L241L|KCNK4_ENST00000539216.1_Silent_p.L241L|RP11-783K16.10_ENST00000539086.1_RNA	p.R126W			Q9NYG8	KCNK4_HUMAN			5	628	+			0					B5TJL1|Q96T94	Missense_Mutation	SNP	ENST00000539216.1	37	c.376C>T	CCDS8067.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.211205	0.39102	4.54E-4	0.0	ENSG00000182450	ENST00000538767	.	.	.	5.57	-11.1	0.00147	.	.	.	.	.	T	0.45074	0.1324	.	.	.	0.80722	D	1	B	0.14805	0.011	B	0.04013	0.001	T	0.27297	-1.0078	7	0.87932	D	0	.	11.3076	0.49345	0.0:0.1162:0.486:0.3978	.	126	F5GYE0	.	W	126	.	ENSP00000446454:R126W	R	+	1	2	KCNK4	63822219	0.006000	0.16342	0.638000	0.29380	0.993000	0.82548	-1.600000	0.02083	-1.946000	0.01035	-0.367000	0.07326	CGG		0.637	KCNK4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396430.1	NM_033311		16	36	0	0	0	0.520397	0	16	36				
BTK	695	broad.mit.edu	37	X	100630266	100630266	+	Missense_Mutation	SNP	C	C	A	rs368549990		TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chrX:100630266C>A	ENST00000308731.7	-	2	170	c.7G>T	c.(7-9)Gca>Tca	p.A3S	BTK_ENST00000372880.1_Missense_Mutation_p.A3S|BTK_ENST00000464567.1_5'UTR	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	3	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)	p.A3S(3)		breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AGAATCACTGCGGCCATAGCT	0.468									Agammaglobulinemia, X-linked																													ENST00000308731.7																			3	Substitution - Missense(3)	p.A3S(3)	prostate(2)|lung(1)	breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(7-9)Gca>Tca		Bruton agammaglobulinemia tyrosine kinase							137.0	124.0	128.0					X																	100630266		2203	4300	6503	SO:0001583	missense	695	Agammaglobulinemia, X-linked	Familial Cancer Database	Bruton Type Agammaglobulinemia	calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	g.chrX:100630266C>A	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.7G>T	X.37:g.100630266C>A	ENSP00000308176:p.Ala3Ser					BTK_ENST00000464567.1_5'UTR|BTK_ENST00000372880.1_Missense_Mutation_p.A3S	p.A3S	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN			2	170	-			3			PH.		B2RAW1|Q32ML5	Missense_Mutation	SNP	ENST00000308731.7	37	c.7G>T	CCDS14482.1	.	.	.	.	.	.	.	.	.	.	C	9.546	1.114781	0.20795	.	.	ENSG00000010671	ENST00000372880;ENST00000308731	D;T	0.81659	-1.52;-0.94	5.35	0.533	0.17121	Pleckstrin homology domain (1);	0.572708	0.19420	N	0.114718	T	0.54240	0.1846	N	0.08118	0	0.21652	N	0.999609	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.36311	-0.9753	10	0.10636	T	0.68	.	5.5259	0.16957	0.1282:0.4389:0.0:0.4328	.	3;3;3	Q5JY90;B2RAW1;Q06187	.;.;BTK_HUMAN	S	3	ENSP00000361971:A3S;ENSP00000308176:A3S	ENSP00000308176:A3S	A	-	1	0	BTK	100516922	0.001000	0.12720	0.943000	0.38184	0.513000	0.34164	-0.042000	0.12063	-0.364000	0.08088	-0.192000	0.12808	GCA		0.468	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2	NM_000061		117	62	1	0	4.05427e-82	0.870114	5.33457e-82	117	62				
TRANK1	9881	broad.mit.edu	37	3	36874132	36874132	+	Silent	SNP	C	C	T			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr3:36874132C>T	ENST00000429976.2	-	21	7057	c.6810G>A	c.(6808-6810)ctG>ctA	p.L2270L	TRANK1_ENST00000428977.2_Silent_p.L1720L|TRANK1_ENST00000301807.6_Silent_p.L1720L	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2270							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)	p.L1713L(1)|p.L1720L(1)|p.L2270L(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CATTTTCAAACAGAAAGTGGA	0.468																																						ENST00000429976.2																			3	Substitution - coding silent(3)	p.L1713L(1)|p.L1720L(1)|p.L2270L(1)	prostate(3)	NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(6808-6810)ctG>ctA		tetratricopeptide repeat and ankyrin repeat containing 1							75.0	73.0	73.0					3																	36874132		1866	4093	5959	SO:0001819	synonymous_variant	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36874132C>T	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.6810G>A	3.37:g.36874132C>T						TRANK1_ENST00000301807.6_Silent_p.L1720L|TRANK1_ENST00000428977.2_Silent_p.L1720L	p.L2270L			O15050	TRNK1_HUMAN			21	7057	-			2270					Q8N8K0	Silent	SNP	ENST00000429976.2	37	c.6810G>A	CCDS46789.2																																																																																				0.468	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		103	98	0	0	0	0.870114	0	103	98				
RP11-483E23.2	0	broad.mit.edu	37	15	28600002	28600002	+	RNA	SNP	T	T	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr15:28600002T>A	ENST00000568624.1	-	0	404																											TTCGTATGGTTTGAACCTGGG	0.493																																						ENST00000568624.1																			0																																																			0							g.chr15:28600002T>A																													15.37:g.28600002T>A														0	404	-									RNA	SNP	ENST00000568624.1	37			.	.	.	.	.	.	.	.	.	.	.	5.336	0.247398	0.10130	.	.	ENSG00000237850	ENST00000454724;ENST00000424531	.	.	.	.	.	.	.	.	.	.	.	T	0.14270	0.0345	.	.	.	.	.	.	B	0.11235	0.004	B	0.01281	0.0	T	0.23476	-1.0187	4	0.18276	T	0.48	.	.	.	.	.	112	B4DY83	.	H	118;116	.	ENSP00000393266:Q116H	Q	-	3	2	AC091304.2	26273597	0.988000	0.35896	0.117000	0.21633	0.118000	0.20060	-1.015000	0.03637	-2.183000	0.00763	-2.300000	0.00261	CAA		0.493	RP11-483E23.2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000431212.1			5	206	0	0	0	0.217242	0	5	206				
RBM5	10181	broad.mit.edu	37	3	50147121	50147121	+	Splice_Site	SNP	G	G	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr3:50147121G>A	ENST00000347869.3	+	15	1453	c.1278G>A	c.(1276-1278)ccG>ccA	p.P426P	RBM5_ENST00000441812.2_3'UTR	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	426	Required for interaction with U2AF2.				apoptotic process (GO:0006915)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.P426P(1)		breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTGGCTCTCCGGTAATCCTGT	0.463																																						ENST00000347869.3																			1	Substitution - coding silent(1)	p.P426P(1)	prostate(1)	breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19						c.e15+1		RNA binding motif protein 5							131.0	119.0	123.0					3																	50147121		2203	4300	6503	SO:0001630	splice_region_variant	10181				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding	g.chr3:50147121G>A	U23946	CCDS2810.1	3p21.3	2013-08-15			ENSG00000003756	ENSG00000003756		"""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9902	protein-coding gene	gene with protein product		606884				10352938, 23935508	Standard	NM_005778		Approved	LUCA15, H37	uc003cyg.3	P52756	OTTHUMG00000156785	ENST00000347869.3:c.1278+1G>A	3.37:g.50147121G>A						RBM5_ENST00000441812.2_3'UTR	p.P426_splice	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	15	1453	+			426			Required for interaction with U2AF2.		B2RA45|B4DM16|B4DMF9|B4DZ63|Q93021|Q9BU14|Q9HDA6|Q9UKY8|Q9UL24	Splice_Site	SNP	ENST00000347869.3	37	c.1278_splice	CCDS2810.1																																																																																				0.463	RBM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345797.3	NM_005778	Silent	88	228	0	0	0	0.870114	0	88	228				
C1orf116	79098	broad.mit.edu	37	1	207195634	207195634	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr1:207195634C>A	ENST00000359470.5	-	4	1724	c.1475G>T	c.(1474-1476)aGc>aTc	p.S492I	C1orf116_ENST00000461135.2_Missense_Mutation_p.S246I	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	492						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.S492T(1)|p.S492I(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					AAGGTAGCTGCTCAGTCCCAC	0.542																																						ENST00000359470.5																			2	Substitution - Missense(2)	p.S492T(1)|p.S492I(1)	prostate(1)|lung(1)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29						c.(1474-1476)aGc>aTc		chromosome 1 open reading frame 116							41.0	42.0	41.0					1																	207195634		2203	4300	6503	SO:0001583	missense	79098					cytoplasm|plasma membrane	receptor activity	g.chr1:207195634C>A		CCDS1475.1, CCDS44306.1	1q32.1	2012-06-26			ENSG00000182795	ENSG00000182795			28667	protein-coding gene	gene with protein product	"""specifically androgen-regulated gene"""	611680				15525603, 9389513	Standard	NM_023938		Approved	SARG, FLJ36507, MGC2742, MGC4309	uc001hfd.2	Q9BW04	OTTHUMG00000036580	ENST00000359470.5:c.1475G>T	1.37:g.207195634C>A	ENSP00000352447:p.Ser492Ile					C1orf116_ENST00000461135.2_Missense_Mutation_p.S246I	p.S492I	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN			4	1724	-	Prostate(682;0.19)		492					C9JV41|Q658X3	Missense_Mutation	SNP	ENST00000359470.5	37	c.1475G>T	CCDS1475.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.379999	0.82682	.	.	ENSG00000182795	ENST00000359470;ENST00000461135	T;T	0.15603	2.41;2.41	5.7	5.7	0.88788	.	0.229481	0.50627	D	0.000110	T	0.40956	0.1138	M	0.61703	1.905	0.49582	D	0.999806	D	0.76494	0.999	D	0.66979	0.948	T	0.10497	-1.0627	10	0.72032	D	0.01	-11.1594	18.8353	0.92159	0.0:1.0:0.0:0.0	.	492	Q9BW04	SARG_HUMAN	I	492;246	ENSP00000352447:S492I;ENSP00000436862:S246I	ENSP00000352447:S492I	S	-	2	0	C1orf116	205262257	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	4.673000	0.61604	2.688000	0.91661	0.655000	0.94253	AGC		0.542	C1orf116-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088973.1	NM_024115		3	41	1	0	0.115264	0.115264	0.125287	3	41				
ZIC1	7545	broad.mit.edu	37	3	147130364	147130364	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr3:147130364G>A	ENST00000282928.4	+	2	1771	c.1042G>A	c.(1042-1044)Gac>Aac	p.D348N		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	348					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D348N(2)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						TAACAGCAGCGACCGCAAGAA	0.532																																						ENST00000282928.4																			2	Substitution - Missense(2)	p.D348N(2)	large_intestine(1)|prostate(1)	central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						c.(1042-1044)Gac>Aac		Zic family member 1							123.0	101.0	109.0					3																	147130364		2203	4300	6503	SO:0001583	missense	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147130364G>A	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.1042G>A	3.37:g.147130364G>A	ENSP00000282928:p.Asp348Asn						p.D348N	NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN			2	1771	+			348					Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	c.1042G>A	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	G	31	5.101396	0.94245	.	.	ENSG00000152977	ENST00000282928	T	0.07567	3.18	3.48	3.48	0.39840	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	U	0.000000	T	0.12050	0.0293	N	0.17248	0.465	0.80722	D	1	D	0.54047	0.964	P	0.55999	0.789	T	0.17592	-1.0364	10	0.87932	D	0	.	15.1592	0.72767	0.0:0.0:1.0:0.0	.	348	Q15915	ZIC1_HUMAN	N	348	ENSP00000282928:D348N	ENSP00000282928:D348N	D	+	1	0	ZIC1	148613054	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.515000	0.98015	1.772000	0.52199	0.462000	0.41574	GAC		0.532	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		39	208	0	0	0	0.840704	0	39	208				
ZNF536	9745	broad.mit.edu	37	19	30935719	30935719	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr19:30935719G>A	ENST00000355537.3	+	2	1397	c.1250G>A	c.(1249-1251)gGc>gAc	p.G417D		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	417					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)	p.G417D(1)		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)					CCCATGGGCGGCATGTCCCAG	0.632																																						ENST00000355537.3																			1	Substitution - Missense(1)	p.G417D(1)	prostate(1)	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.(1249-1251)gGc>gAc		zinc finger protein 536							40.0	40.0	40.0					19																	30935719		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935719G>A		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.1250G>A	19.37:g.30935719G>A	ENSP00000347730:p.Gly417Asp						p.G417D	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			2	1397	+	Esophageal squamous(110;0.0834)		417					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.1250G>A	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.641121	0.00799	.	.	ENSG00000198597	ENST00000355537	T	0.07444	3.19	5.44	5.44	0.79542	.	0.423208	0.29646	N	0.011566	T	0.07098	0.0180	N	0.24115	0.695	0.37295	D	0.908451	B;B	0.28713	0.22;0.22	B;B	0.24541	0.054;0.054	T	0.37478	-0.9704	10	0.12766	T	0.61	-10.0924	19.25	0.93921	0.0:0.0:1.0:0.0	.	417;417	A7E228;O15090	.;ZN536_HUMAN	D	417	ENSP00000347730:G417D	ENSP00000347730:G417D	G	+	2	0	ZNF536	35627559	1.000000	0.71417	0.985000	0.45067	0.929000	0.56500	4.266000	0.58871	2.535000	0.85469	0.591000	0.81541	GGC		0.632	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		3	82	0	0	0	0.115264	0	3	82				
SETD5	55209	broad.mit.edu	37	3	9482170	9482170	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr3:9482170G>A	ENST00000406341.1	+	7	788	c.598G>A	c.(598-600)Gag>Aag	p.E200K	SETD5_ENST00000302463.6_Missense_Mutation_p.E102K|SETD5_ENST00000402198.1_Missense_Mutation_p.E200K|SETD5_ENST00000402466.1_Missense_Mutation_p.E102K|SETD5_ENST00000407969.1_Missense_Mutation_p.E219K			Q9C0A6	SETD5_HUMAN	SET domain containing 5	200								p.E200K(1)|p.E102K(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		GAATTTAGATGAGAATACAAC	0.433																																						ENST00000402466.1																			2	Substitution - Missense(2)	p.E200K(1)|p.E102K(1)	prostate(2)	NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(304-306)Gag>Aag		SET domain containing 5							55.0	52.0	53.0					3																	9482170		1827	4072	5899	SO:0001583	missense	55209							g.chr3:9482170G>A	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.598G>A	3.37:g.9482170G>A	ENSP00000383939:p.Glu200Lys					SETD5_ENST00000302463.6_Missense_Mutation_p.E102K|SETD5_ENST00000407969.1_Missense_Mutation_p.E219K|SETD5_ENST00000402198.1_Missense_Mutation_p.E200K|SETD5_ENST00000406341.1_Missense_Mutation_p.E200K	p.E102K			Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	9	1072	+	Medulloblastoma(99;0.227)		200					Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	c.304G>A	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	G	33	5.266424	0.95399	.	.	ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000442373;ENST00000302463	D;D;D;D;T;D	0.93019	-2.78;-3.15;-2.78;-2.76;0.77;-3.15	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.95529	0.8547	L	0.47716	1.5	0.50313	D	0.999867	D;D;P	0.76494	0.999;0.997;0.892	D;D;P	0.77557	0.99;0.98;0.672	D	0.95657	0.8712	10	0.62326	D	0.03	-5.7115	19.1893	0.93658	0.0:0.0:1.0:0.0	.	102;200;219	Q9C0A6-3;Q9C0A6;E7EWN3	.;SETD5_HUMAN;.	K	200;102;200;219;89;102	ENSP00000385852:E200K;ENSP00000384429:E102K;ENSP00000383939:E200K;ENSP00000384114:E219K;ENSP00000408837:E89K;ENSP00000302028:E102K	ENSP00000302028:E102K	E	+	1	0	SETD5	9457170	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.420000	0.97426	2.628000	0.89032	0.563000	0.77884	GAG		0.433	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		15	39	0	0	0	0.667858	0	15	39				
HARBI1	283254	broad.mit.edu	37	11	46625305	46625305	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr11:46625305A>C	ENST00000326737.3	-	3	1072	c.825T>G	c.(823-825)gaT>gaG	p.D275E		NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	275						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclease activity (GO:0004518)	p.D275E(1)		large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						CCTTGGATCCATCCAGGCAGC	0.517																																						ENST00000326737.3																			1	Substitution - Missense(1)	p.D275E(1)	prostate(1)	large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						c.(823-825)gaT>gaG		harbinger transposase derived 1							104.0	95.0	98.0					11																	46625305		2201	4299	6500	SO:0001583	missense	283254					cytoplasm|nucleus	metal ion binding|nuclease activity	g.chr11:46625305A>C	AK057237	CCDS7920.1	11p11.2	2008-07-10	2008-07-01	2008-07-01	ENSG00000180423	ENSG00000180423			26522	protein-coding gene	gene with protein product		615086	"""chromosome 11 open reading frame 77"""	C11orf77		15169610, 18339812	Standard	NM_173811		Approved	FLJ32675	uc001ncy.3	Q96MB7	OTTHUMG00000166537	ENST00000326737.3:c.825T>G	11.37:g.46625305A>C	ENSP00000317743:p.Asp275Glu						p.D275E	NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN			3	1072	-			275					D3DQP9	Missense_Mutation	SNP	ENST00000326737.3	37	c.825T>G	CCDS7920.1	.	.	.	.	.	.	.	.	.	.	A	16.07	3.017462	0.54576	.	.	ENSG00000180423	ENST00000326737	.	.	.	5.96	2.22	0.28083	.	0.000000	0.85682	D	0.000000	T	0.47097	0.1427	M	0.70595	2.14	0.53005	D	0.999961	P	0.37731	0.607	B	0.33121	0.158	T	0.46091	-0.9216	9	0.06625	T	0.88	-18.8028	10.545	0.45056	0.7495:0.0:0.2505:0.0	.	275	Q96MB7	HARB1_HUMAN	E	275	.	ENSP00000317743:D275E	D	-	3	2	HARBI1	46581881	0.916000	0.31088	1.000000	0.80357	0.996000	0.88848	0.110000	0.15437	0.117000	0.18138	-0.256000	0.11100	GAT		0.517	HARBI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390291.1	NM_173811		15	33	0	0	0	0.479597	0	15	33				
FZD4	8322	broad.mit.edu	37	11	86662648	86662648	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr11:86662648G>A	ENST00000531380.1	-	2	1455	c.1150C>T	c.(1150-1152)Ctc>Ttc	p.L384F	PRSS23_ENST00000531521.1_3'UTR|PRSS23_ENST00000533902.2_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled class receptor 4	384					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|cerebellum vasculature morphogenesis (GO:0061301)|extracellular matrix-cell signaling (GO:0035426)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of cell-substrate adhesion (GO:0010812)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal blood vessel morphogenesis (GO:0061304)|sensory perception of sound (GO:0007605)|substrate adhesion-dependent cell spreading (GO:0034446)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.L384F(1)		breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGGGCATCGAGATTTTGGTTT	0.483																																						ENST00000531380.1																			1	Substitution - Missense(1)	p.L384F(1)	prostate(1)	breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21						c.(1150-1152)Ctc>Ttc		frizzled family receptor 4							119.0	105.0	110.0					11																	86662648		2201	4299	6500	SO:0001583	missense	8322				canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	g.chr11:86662648G>A	AB032417	CCDS8279.1	11q14-q21	2014-01-29	2014-01-29			ENSG00000174804		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4042	protein-coding gene	gene with protein product		604579	"""frizzled (Drosophila) homolog 4"", ""exudative vitreoretinopathy 1"", ""frizzled homolog 4 (Drosophila)"", ""frizzled 4, seven transmembrane spanning receptor"", ""frizzled family receptor 4"""	EVR1		10544037, 15024691	Standard	NM_012193		Approved	CD344	uc001pce.3	Q9ULV1		ENST00000531380.1:c.1150C>T	11.37:g.86662648G>A	ENSP00000434034:p.Leu384Phe					PRSS23_ENST00000533902.2_3'UTR|PRSS23_ENST00000531521.1_3'UTR	p.L384F	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN			2	1455	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	384					A8K9Q3|Q14C97|Q6S9E4	Missense_Mutation	SNP	ENST00000531380.1	37	c.1150C>T	CCDS8279.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.632417	0.29068	.	.	ENSG00000174804	ENST00000531380	T	0.44083	0.93	5.47	3.58	0.41010	GPCR, family 2-like (1);	0.122257	0.56097	D	0.000035	T	0.42743	0.1216	M	0.79926	2.475	0.42929	D	0.994314	P	0.37636	0.603	B	0.38921	0.285	T	0.41378	-0.9512	9	.	.	.	.	6.3914	0.21589	0.2058:0.0:0.6587:0.1355	.	384	Q9ULV1	FZD4_HUMAN	F	384	ENSP00000434034:L384F	.	L	-	1	0	FZD4	86340296	1.000000	0.71417	0.988000	0.46212	0.919000	0.55068	2.220000	0.42908	1.467000	0.48044	0.561000	0.74099	CTC		0.483	FZD4-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393818.2	NM_012193		10	150	0	0	0	0.335167	0	10	150				
C5	727	broad.mit.edu	37	9	123805397	123805397	+	Silent	SNP	C	C	T	rs151322743	byFrequency	TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr9:123805397C>T	ENST00000223642.1	-	3	335	c.306G>A	c.(304-306)gtG>gtA	p.V102V		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	102					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)	p.V102V(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	CTTCCAAATACACATAAGAAA	0.299													C|||	5	0.000998403	0.0038	0.0	5008	,	,		16240	0.0		0.0	False		,,,				2504	0.0					ENST00000223642.1																			1	Substitution - coding silent(1)	p.V102V(1)	prostate(1)	breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(304-306)gtG>gtA		complement component 5	Eculizumab(DB01257)	C		14,4392	21.2+/-45.6	0,14,2189	81.0	79.0	79.0		306	0.4	1.0	9	dbSNP_134	79	0,8600		0,0,4300	no	coding-synonymous	C5	NM_001735.2		0,14,6489	TT,TC,CC		0.0,0.3177,0.1076		102/1677	123805397	14,12992	2203	4300	6503	SO:0001819	synonymous_variant	727				activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity	g.chr9:123805397C>T	M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"""Complement system"", ""Endogenous ligands"""	1331	protein-coding gene	gene with protein product	"""prepro-C5"", ""C5a anaphylatoxin"""	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.306G>A	9.37:g.123805397C>T							p.V102V	NM_001735.2	NP_001726.2	P01031	CO5_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	3	335	-			102					Q14CJ0|Q27I61	Silent	SNP	ENST00000223642.1	37	c.306G>A	CCDS6826.1																																																																																				0.299	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735		23	80	0	0	0	0.624587	0	23	80				
FZD4	8322	broad.mit.edu	37	11	86663024	86663024	+	Silent	SNP	G	G	A	rs370811133		TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr11:86663024G>A	ENST00000531380.1	-	2	1079	c.774C>T	c.(772-774)ctC>ctT	p.L258L	PRSS23_ENST00000533902.2_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled class receptor 4	258					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|cerebellum vasculature morphogenesis (GO:0061301)|extracellular matrix-cell signaling (GO:0035426)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of cell-substrate adhesion (GO:0010812)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal blood vessel morphogenesis (GO:0061304)|sensory perception of sound (GO:0007605)|substrate adhesion-dependent cell spreading (GO:0034446)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.L258L(1)		breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGCACATACTGAGAAATATGA	0.458																																						ENST00000531380.1																			1	Substitution - coding silent(1)	p.L258L(1)	prostate(1)	breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21						c.(772-774)ctC>ctT		frizzled family receptor 4							40.0	42.0	42.0					11																	86663024		2201	4299	6500	SO:0001819	synonymous_variant	8322				canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	g.chr11:86663024G>A	AB032417	CCDS8279.1	11q14-q21	2014-01-29	2014-01-29			ENSG00000174804		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4042	protein-coding gene	gene with protein product		604579	"""frizzled (Drosophila) homolog 4"", ""exudative vitreoretinopathy 1"", ""frizzled homolog 4 (Drosophila)"", ""frizzled 4, seven transmembrane spanning receptor"", ""frizzled family receptor 4"""	EVR1		10544037, 15024691	Standard	NM_012193		Approved	CD344	uc001pce.3	Q9ULV1		ENST00000531380.1:c.774C>T	11.37:g.86663024G>A						PRSS23_ENST00000533902.2_3'UTR	p.L258L	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN			2	1079	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	258					A8K9Q3|Q14C97|Q6S9E4	Silent	SNP	ENST00000531380.1	37	c.774C>T	CCDS8279.1																																																																																				0.458	FZD4-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393818.2	NM_012193		7	61	0	0	0	0.278610	0	7	61				
GPR174	84636	broad.mit.edu	37	X	78426887	78426887	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chrX:78426887A>G	ENST00000276077.1	+	1	419	c.383A>G	c.(382-384)gAc>gGc	p.D128G		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	128						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.D128G(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						CGCTTCCATGACTGCAAACAG	0.458										HNSCC(63;0.18)																												ENST00000276077.1																			1	Substitution - Missense(1)	p.D128G(1)	prostate(1)	central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						c.(382-384)gAc>gGc		G protein-coupled receptor 174							215.0	192.0	200.0					X																	78426887		2203	4300	6503	SO:0001583	missense	84636					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78426887A>G	AF345567	CCDS14443.1	Xq13.3	2012-08-21			ENSG00000147138	ENSG00000147138		"""GPCR / Class A : Orphans"""	30245	protein-coding gene	gene with protein product		300903					Standard	NM_032553		Approved	FKSG79	uc004edg.1	Q9BXC1	OTTHUMG00000021898	ENST00000276077.1:c.383A>G	X.37:g.78426887A>G	ENSP00000276077:p.Asp128Gly	HNSCC(63;0.18)					p.D128G	NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN			1	419	+			128					Q2M3F7	Missense_Mutation	SNP	ENST00000276077.1	37	c.383A>G	CCDS14443.1	.	.	.	.	.	.	.	.	.	.	a	14.58	2.578656	0.46006	.	.	ENSG00000147138	ENST00000276077	T	0.36699	1.24	5.06	5.06	0.68205	GPCR, rhodopsin-like superfamily (1);	0.261386	0.37809	N	0.001928	T	0.30355	0.0762	L	0.36672	1.1	0.43824	D	0.996393	B	0.21688	0.059	B	0.28465	0.09	T	0.07347	-1.0777	10	0.23891	T	0.37	.	12.6732	0.56878	1.0:0.0:0.0:0.0	.	128	Q9BXC1	GP174_HUMAN	G	128	ENSP00000276077:D128G	ENSP00000276077:D128G	D	+	2	0	GPR174	78313543	1.000000	0.71417	0.990000	0.47175	0.934000	0.57294	3.393000	0.52544	1.671000	0.50874	0.397000	0.26171	GAC		0.458	GPR174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057327.1	NM_032553		124	63	0	0	0	0.870114	0	124	63				
MGAM	8972	broad.mit.edu	37	7	141754596	141754596	+	Silent	SNP	C	C	T			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr7:141754596C>T	ENST00000549489.2	+	27	3297	c.3202C>T	c.(3202-3204)Ctg>Ttg	p.L1068L	MGAM_ENST00000475668.2_Silent_p.L1068L	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1068	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.L1068L(4)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCCAGTCCCTCTGAACATACC	0.433																																						ENST00000475668.2																			4	Substitution - coding silent(4)	p.L1068L(4)	prostate(4)	cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(3202-3204)Ctg>Ttg		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						159.0	150.0	153.0					7																	141754596		1906	4114	6020	SO:0001819	synonymous_variant	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141754596C>T	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.3202C>T	7.37:g.141754596C>T						MGAM_ENST00000549489.2_Silent_p.L1068L	p.L1068L			O43451	MGA_HUMAN			27	3256	+	Melanoma(164;0.0272)		1068			Glucoamylase.		Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000549489.2	37	c.3202C>T	CCDS47727.1																																																																																				0.433	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			118	84	0	0	0	0.870114	0	118	84				
TARBP1	6894	broad.mit.edu	37	1	234556448	234556448	+	Splice_Site	SNP	C	C	T			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr1:234556448C>T	ENST00000040877.1	-	21	3554	c.3555G>A	c.(3553-3555)caG>caA	p.Q1185Q		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1185					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			AATATGATACCTGGTCAAGTC	0.338																																						ENST00000040877.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55						c.e21+1		TAR (HIV-1) RNA binding protein 1							83.0	90.0	87.0					1																	234556448		2203	4300	6503	SO:0001630	splice_region_variant	6894				regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	g.chr1:234556448C>T		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.3555+1G>A	1.37:g.234556448C>T							p.Q1185_splice	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000263)		21	3554	-	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	1185					Q9H581	Splice_Site	SNP	ENST00000040877.1	37	c.3555_splice	CCDS1601.1																																																																																				0.338	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646	Silent	49	96	0	0	0	0.870114	0	49	96				
TFAM	7019	broad.mit.edu	37	10	60148567	60148567	+	Missense_Mutation	SNP	G	G	A	rs553009666		TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr10:60148567G>A	ENST00000487519.1	+	4	955	c.429G>A	c.(427-429)atG>atA	p.M143I	TFAM_ENST00000373899.3_3'UTR|TFAM_ENST00000373895.3_Missense_Mutation_p.M143I	NM_001270782.1|NM_003201.2	NP_001257711.1|NP_003192.1	Q00059	TFAM_HUMAN	transcription factor A, mitochondrial	143					DNA-dependent DNA replication (GO:0006261)|gene expression (GO:0010467)|mitochondrial respiratory chain complex assembly (GO:0033108)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|mitochondrial light strand promoter sense binding (GO:0070363)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.M143I(1)		kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						GGAAAGCTATGACAAAAAAAA	0.269													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17042	0.0		0.0	False		,,,				2504	0.0					ENST00000487519.1																			1	Substitution - Missense(1)	p.M143I(1)	prostate(1)	kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						c.(427-429)atG>atA		transcription factor A, mitochondrial							43.0	52.0	49.0					10																	60148567		2199	4296	6495	SO:0001583	missense	7019				DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr10:60148567G>A	BC018628	CCDS7253.1, CCDS59217.1	10q21	2010-09-24			ENSG00000108064	ENSG00000108064			11741	protein-coding gene	gene with protein product		600438		TCF6, TCF6L2		7789991	Standard	NM_003201		Approved		uc001jkf.4	Q00059	OTTHUMG00000018270	ENST00000487519.1:c.429G>A	10.37:g.60148567G>A	ENSP00000420588:p.Met143Ile					TFAM_ENST00000373895.3_Missense_Mutation_p.M143I|TFAM_ENST00000373899.3_3'UTR	p.M143I	NM_003201.1	NP_003192.1	Q00059	TFAM_HUMAN			4	955	+			143					A8MRB2|A9QXC6|B5BU05|Q5U0C6	Missense_Mutation	SNP	ENST00000487519.1	37	c.429G>A	CCDS7253.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.008|0.008	-1.913738|-1.913738	0.00503|0.00503	.|.	.|.	ENSG00000108064|ENSG00000108064	ENST00000395377|ENST00000487519;ENST00000373895	.|T;T	.|0.12984	.|2.63;2.67	4.87|4.87	2.46|2.46	0.29980|0.29980	.|High mobility group, superfamily (1);	.|1.416010	.|0.04135	.|N	.|0.318648	T|T	0.08268|0.08268	0.0206|0.0206	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.06405	.|0.002;0.0	T|T	0.32929|0.32929	-0.9888|-0.9888	5|10	.|0.37606	.|T	.|0.19	.|.	6.2587|6.2587	0.20887|0.20887	0.7887:0.0:0.2113:0.0|0.7887:0.0:0.2113:0.0	.|.	.|143;143	.|A8MRB2;Q00059	.|.;TFAM_HUMAN	N|I	125|143	.|ENSP00000420588:M143I;ENSP00000363002:M143I	.|ENSP00000363002:M143I	D|M	+|+	1|3	0|0	TFAM|TFAM	59818573|59818573	0.001000|0.001000	0.12720|0.12720	0.013000|0.013000	0.15412|0.15412	0.001000|0.001000	0.01503|0.01503	0.972000|0.972000	0.29409|0.29409	0.325000|0.325000	0.23359|0.23359	-0.302000|-0.302000	0.09304|0.09304	GAC|ATG		0.269	TFAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048146.1	NM_003201		46	83	0	0	0	0.870114	0	46	83				
PATE2	399967	broad.mit.edu	37	11	125647403	125647403	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr11:125647403C>T	ENST00000358524.3	-	4	261	c.216G>A	c.(214-216)atG>atA	p.M72I	PATE2_ENST00000436890.2_Missense_Mutation_p.M29I	NM_212555.2	NP_997720.1	Q6UY27	PATE2_HUMAN	prostate and testis expressed 2	72						extracellular space (GO:0005615)		p.M72I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)	6						AATAATGATACATGCTCTGCC	0.423																																						ENST00000358524.3																			1	Substitution - Missense(1)	p.M72I(1)	prostate(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)	6						c.(214-216)atG>atA		prostate and testis expressed 2							116.0	95.0	102.0					11																	125647403		2201	4299	6500	SO:0001583	missense	399967					extracellular space		g.chr11:125647403C>T	AY358105	CCDS8465.1	11q24.2	2008-12-17	2008-12-17	2008-12-17		ENSG00000196844		"""PATE family"""	32249	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 38"""	C11orf38			Standard	NM_212555		Approved	UNQ3112, LVLF3112, PATE-M	uc001qcu.3	Q6UY27		ENST00000358524.3:c.216G>A	11.37:g.125647403C>T	ENSP00000351325:p.Met72Ile					PATE2_ENST00000436890.2_Missense_Mutation_p.M29I	p.M72I	NM_212555.2	NP_997720.1	Q6UY27	PATE2_HUMAN			4	261	-			72					B2RNZ2|B7ZMG4	Missense_Mutation	SNP	ENST00000358524.3	37	c.216G>A	CCDS8465.1	.	.	.	.	.	.	.	.	.	.	C	7.438	0.640113	0.14386	.	.	ENSG00000196844	ENST00000358524;ENST00000436890	D;D	0.92249	-3.0;-3.0	5.07	4.16	0.48862	.	0.574123	0.18729	N	0.132790	D	0.89427	0.6712	M	0.63428	1.95	0.21020	N	0.999803	B;B	0.15141	0.012;0.012	B;B	0.12837	0.008;0.008	T	0.81771	-0.0780	10	0.48119	T	0.1	-22.5484	9.6085	0.39648	0.0:0.9053:0.0:0.0947	.	29;72	Q6UY27-2;Q6UY27	.;PATE2_HUMAN	I	72;29	ENSP00000351325:M72I;ENSP00000414895:M29I	ENSP00000351325:M72I	M	-	3	0	PATE2	125152613	0.903000	0.30736	0.370000	0.25965	0.250000	0.25880	1.505000	0.35736	1.504000	0.48704	0.609000	0.83330	ATG		0.423	PATE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386729.1	NM_212555		33	100	0	0	0	0.769981	0	33	100				
PRM2	5620	broad.mit.edu	37	16	11367307	11367307	+	IGR	SNP	G	G	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr16:11367307G>A	ENST00000241808.4	-	0	680				RMI2_ENST00000572173.1_Intron|PRM3_ENST00000327157.2_Missense_Mutation_p.A49V|SNORA48_ENST00000390926.1_RNA	NM_002762.2	NP_002753.2	P04554	PRM2_HUMAN	protamine 2						cell differentiation (GO:0030154)|chromosome condensation (GO:0030261)|DNA packaging (GO:0006323)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.0?(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)	7						ttcctcGCCCGCTGATGACAA	0.617																																						ENST00000327157.2																			1	Whole gene deletion(1)	p.0?(1)	haematopoietic_and_lymphoid_tissue(1)								c.(145-147)gCg>gTg		protamine 3							10.0	13.0	12.0					16																	11367307		2094	4217	6311	SO:0001628	intergenic_variant	58531				cell differentiation|chromosome condensation|multicellular organismal development|spermatogenesis	nucleosome|nucleus	DNA binding	g.chr16:11367307G>A		CCDS42118.1, CCDS66944.1	16p13.13	2013-10-17			ENSG00000122304	ENSG00000122304			9448	protein-coding gene	gene with protein product	"""cancer/testis antigen family 94, member 2"""	182890				16632464	Standard	NM_001286356		Approved	CT94.2	uc002dau.1	P04554	OTTHUMG00000172317		16.37:g.11367307G>A						RMI2_ENST00000572173.1_Intron	p.A49V	NM_021247.1	NP_067070.1	Q9NNZ6	PRM3_HUMAN			1	145	-			49					Q6ZMM0	Missense_Mutation	SNP	ENST00000241808.4	37	c.146C>T	CCDS42118.1	.	.	.	.	.	.	.	.	.	.	G	5.364	0.252367	0.10185	.	.	ENSG00000178257	ENST00000327157	T	0.46063	0.88	4.08	0.619	0.17630	.	0.382752	0.19555	N	0.111479	T	0.18800	0.0451	N	0.08118	0	0.20196	N	0.999923	B	0.25743	0.133	B	0.24006	0.05	T	0.12400	-1.0549	10	0.48119	T	0.1	-17.0734	4.923	0.13880	0.0:0.1:0.3773:0.5227	.	49	Q9NNZ6	PRM3_HUMAN	V	49	ENSP00000325638:A49V	ENSP00000325638:A49V	A	-	2	0	PRM3	11274808	0.019000	0.18553	0.003000	0.11579	0.003000	0.03518	0.939000	0.28978	0.076000	0.16826	-0.384000	0.06662	GCG		0.617	PRM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417808.1			7	3	0	0	0	0.278610	0	7	3				
SETD5	55209	broad.mit.edu	37	3	9482254	9482254	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr3:9482254G>A	ENST00000406341.1	+	7	872	c.682G>A	c.(682-684)Gat>Aat	p.D228N	SETD5_ENST00000302463.6_Missense_Mutation_p.D130N|SETD5_ENST00000402198.1_Missense_Mutation_p.D228N|SETD5_ENST00000402466.1_Missense_Mutation_p.D130N|SETD5_ENST00000407969.1_Missense_Mutation_p.D247N			Q9C0A6	SETD5_HUMAN	SET domain containing 5	228								p.D228N(1)|p.D130N(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		GTACAGTGCAGATGTACAGAA	0.398																																						ENST00000402466.1																			2	Substitution - Missense(2)	p.D228N(1)|p.D130N(1)	prostate(2)	NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(388-390)Gat>Aat		SET domain containing 5							99.0	94.0	96.0					3																	9482254		1895	4114	6009	SO:0001583	missense	55209							g.chr3:9482254G>A	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.682G>A	3.37:g.9482254G>A	ENSP00000383939:p.Asp228Asn					SETD5_ENST00000302463.6_Missense_Mutation_p.D130N|SETD5_ENST00000407969.1_Missense_Mutation_p.D247N|SETD5_ENST00000402198.1_Missense_Mutation_p.D228N|SETD5_ENST00000406341.1_Missense_Mutation_p.D228N	p.D130N			Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	9	1156	+	Medulloblastoma(99;0.227)		228					Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	c.388G>A	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	G	36	5.745473	0.96882	.	.	ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000442373;ENST00000302463	D;D;D;D;T;D	0.93811	-2.86;-3.29;-2.86;-2.85;0.65;-3.29	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.95626	0.8578	L	0.50333	1.59	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.991	D;D;P	0.87578	0.998;0.989;0.833	D	0.94507	0.7715	10	0.37606	T	0.19	-5.1712	19.4739	0.94976	0.0:0.0:1.0:0.0	.	130;228;247	Q9C0A6-3;Q9C0A6;E7EWN3	.;SETD5_HUMAN;.	N	228;130;228;247;117;130	ENSP00000385852:D228N;ENSP00000384429:D130N;ENSP00000383939:D228N;ENSP00000384114:D247N;ENSP00000408837:D117N;ENSP00000302028:D130N	ENSP00000302028:D130N	D	+	1	0	SETD5	9457254	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.420000	0.97426	2.697000	0.92050	0.655000	0.94253	GAT		0.398	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		8	55	0	0	0	0.779181	0	8	55				
TP53	7157	broad.mit.edu	37	17	7578526	7578526	+	Missense_Mutation	SNP	C	C	A	rs587781991		TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr17:7578526C>A	ENST00000269305.4	-	5	593	c.404G>T	c.(403-405)tGc>tTc	p.C135F	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.C135F|TP53_ENST00000455263.2_Missense_Mutation_p.C135F|TP53_ENST00000420246.2_Missense_Mutation_p.C135F|TP53_ENST00000359597.4_Missense_Mutation_p.C135F|TP53_ENST00000445888.2_Missense_Mutation_p.C135F	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	135	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> T (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|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 core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C135Y(60)|p.C135F(43)|p.C135S(8)|p.0?(8)|p.C42Y(4)|p.C3Y(4)|p.C135fs*9(3)|p.N131fs*27(2)|p.C3F(2)|p.C42F(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.V73fs*9(1)|p.C135fs*15(1)|p.C135fs*14(1)|p.Y126fs*11(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.C42S(1)|p.M133fs*13(1)|p.C3S(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCCAGTTGGCAAAACATCTT	0.572		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		152	Substitution - Missense(126)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(4)|Insertion - Frameshift(3)|Complex - deletion inframe(1)	p.C135Y(60)|p.C135F(43)|p.C135S(8)|p.0?(8)|p.C42Y(4)|p.C3Y(4)|p.C135fs*9(3)|p.N131fs*27(2)|p.C3F(2)|p.C42F(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.V73fs*9(1)|p.C135fs*15(1)|p.C135fs*14(1)|p.Y126fs*11(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.C42S(1)|p.M133fs*13(1)|p.C3S(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(1)	large_intestine(19)|breast(17)|oesophagus(16)|haematopoietic_and_lymphoid_tissue(13)|urinary_tract(13)|upper_aerodigestive_tract(12)|prostate(11)|lung(9)|ovary(9)|liver(7)|bone(6)|stomach(5)|central_nervous_system(5)|soft_tissue(2)|autonomic_ganglia(2)|eye(1)|kidney(1)|pancreas(1)|skin(1)|NS(1)|pituitary(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(403-405)tGc>tTc	Other conserved DNA damage response genes	tumor protein p53							50.0	50.0	50.0					17																	7578526		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578526C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.404G>T	17.37:g.7578526C>A	ENSP00000269305:p.Cys135Phe	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Missense_Mutation_p.C135F|TP53_ENST00000413465.2_Missense_Mutation_p.C135F|TP53_ENST00000455263.2_Missense_Mutation_p.C135F|TP53_ENST00000359597.4_Missense_Mutation_p.C135F|TP53_ENST00000269305.4_Missense_Mutation_p.C135F	p.C135F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	536	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	135		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> T (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.404G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.574878	0.86542	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99797	-6.79;-6.79;-6.79;-6.79;-6.79;-6.79;-6.79;-6.79;-6.79	5.48	5.48	0.80851	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99771	0.9906	M	0.85945	2.785	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.993;1.0;1.0;1.0;1.0	D;D;P;D;D;D;D	0.97110	0.997;1.0;0.904;1.0;1.0;1.0;1.0	D	0.97349	0.9962	10	0.72032	D	0.01	-26.815	17.2272	0.86973	0.0:1.0:0.0:0.0	.	96;135;135;42;135;135;135	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	135;135;135;135;135;135;124;42;3;42;3;135	ENSP00000410739:C135F;ENSP00000352610:C135F;ENSP00000269305:C135F;ENSP00000398846:C135F;ENSP00000391127:C135F;ENSP00000391478:C135F;ENSP00000425104:C3F;ENSP00000423862:C42F;ENSP00000424104:C135F	ENSP00000269305:C135F	C	-	2	0	TP53	7519251	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	7.772000	0.85439	2.733000	0.93635	0.655000	0.94253	TGC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		23	30	1	0	4.26978e-12	0.654019	5.20704e-12	23	30				
RHBDD1	84236	broad.mit.edu	37	2	227729702	227729702	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr2:227729702G>C	ENST00000341329.3	+	2	535	c.293G>C	c.(292-294)aGa>aCa	p.R98T	RHBDD1_ENST00000392062.2_Missense_Mutation_p.R98T	NM_032276.3	NP_115652.2	Q8TEB9	RHBL4_HUMAN	rhomboid domain containing 1	98					apoptotic process (GO:0006915)|cellular response to unfolded protein (GO:0034620)|cellular response to UV (GO:0034644)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|membrane protein intracellular domain proteolysis (GO:0031293)|membrane protein proteolysis (GO:0033619)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein processing (GO:0010954)|positive regulation of secretion (GO:0051047)|post-translational protein modification (GO:0043687)|spermatid differentiation (GO:0048515)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of endoplasmic reticulum membrane (GO:0030176)|mitochondrion (GO:0005739)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)	p.R98T(1)		breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		CTAGAAAGAAGACTGGGAAGT	0.423																																						ENST00000392062.2																			1	Substitution - Missense(1)	p.R98T(1)	prostate(1)	breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						c.(292-294)aGa>aCa		rhomboid domain containing 1							188.0	178.0	182.0					2																	227729702		2203	4300	6503	SO:0001583	missense	84236					integral to membrane	serine-type endopeptidase activity	g.chr2:227729702G>C	AK074258	CCDS2464.1	2q36.3	2012-07-09			ENSG00000144468	ENSG00000144468			23081	protein-coding gene	gene with protein product						12838346	Standard	NM_032276		Approved	DKFZp547E052	uc002voi.3	Q8TEB9	OTTHUMG00000133178	ENST00000341329.3:c.293G>C	2.37:g.227729702G>C	ENSP00000344779:p.Arg98Thr					RHBDD1_ENST00000341329.3_Missense_Mutation_p.R98T	p.R98T	NM_001167608.1	NP_001161080.1	Q8TEB9	RHBD1_HUMAN		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)	4	817	+		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)	98					Q495B9|Q53S43|Q5EBM8|Q6P5V8|Q8IV60|Q9H057	Missense_Mutation	SNP	ENST00000341329.3	37	c.293G>C	CCDS2464.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925624	0.73213	.	.	ENSG00000144468	ENST00000424132;ENST00000341329;ENST00000392062;ENST00000423616;ENST00000448992	T;T;T;T;T	0.14022	2.54;2.54;2.54;2.54;2.54	6.04	6.04	0.98038	Peptidase S54, rhomboid domain (1);	0.110324	0.64402	D	0.000002	T	0.30103	0.0754	M	0.73319	2.225	0.40383	D	0.979467	D;D	0.69078	0.997;0.996	D;D	0.66602	0.945;0.928	T	0.03673	-1.1014	10	0.16896	T	0.51	-20.9831	10.5305	0.44973	0.1463:0.0:0.8537:0.0	.	98;98	C9K011;Q8TEB9	.;RHBD1_HUMAN	T	98	ENSP00000400765:R98T;ENSP00000344779:R98T;ENSP00000375914:R98T;ENSP00000399694:R98T;ENSP00000388847:R98T	ENSP00000344779:R98T	R	+	2	0	RHBDD1	227437946	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.373000	0.59537	2.873000	0.98535	0.563000	0.77884	AGA		0.423	RHBDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256885.2			8	330	0	0	0	0.278610	0	8	330				
ZAN	7455	broad.mit.edu	37	7	100350275	100350275	+	RNA	SNP	A	A	G			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr7:100350275A>G	ENST00000348028.3	+	0	2712				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.K849K(3)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCATGGAAAAACCCACCATCT	0.507																																						ENST00000542585.1																			3	Substitution - coding silent(3)	p.K849K(3)	prostate(3)	NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							273.0	312.0	300.0					7																	100350275		1868	4118	5986			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100350275A>G	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350275A>G						ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	2695	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37																																																																																						0.507	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		39	71	0	0	0	0.834066	0	39	71				
RHBDD1	84236	broad.mit.edu	37	2	227729679	227729679	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr2:227729679G>A	ENST00000341329.3	+	2	512	c.270G>A	c.(268-270)tgG>tgA	p.W90*	RHBDD1_ENST00000392062.2_Nonsense_Mutation_p.W90*	NM_032276.3	NP_115652.2	Q8TEB9	RHBL4_HUMAN	rhomboid domain containing 1	90					apoptotic process (GO:0006915)|cellular response to unfolded protein (GO:0034620)|cellular response to UV (GO:0034644)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|membrane protein intracellular domain proteolysis (GO:0031293)|membrane protein proteolysis (GO:0033619)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein processing (GO:0010954)|positive regulation of secretion (GO:0051047)|post-translational protein modification (GO:0043687)|spermatid differentiation (GO:0048515)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of endoplasmic reticulum membrane (GO:0030176)|mitochondrion (GO:0005739)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)	p.W90*(1)		breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		CCATGCTCTGGAAAGGAATAA	0.423																																						ENST00000392062.2																			1	Substitution - Nonsense(1)	p.W90*(1)	prostate(1)	breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						c.(268-270)tgG>tgA		rhomboid domain containing 1							171.0	164.0	166.0					2																	227729679		2203	4300	6503	SO:0001587	stop_gained	84236					integral to membrane	serine-type endopeptidase activity	g.chr2:227729679G>A	AK074258	CCDS2464.1	2q36.3	2012-07-09			ENSG00000144468	ENSG00000144468			23081	protein-coding gene	gene with protein product						12838346	Standard	NM_032276		Approved	DKFZp547E052	uc002voi.3	Q8TEB9	OTTHUMG00000133178	ENST00000341329.3:c.270G>A	2.37:g.227729679G>A	ENSP00000344779:p.Trp90*					RHBDD1_ENST00000341329.3_Nonsense_Mutation_p.W90*	p.W90*	NM_001167608.1	NP_001161080.1	Q8TEB9	RHBD1_HUMAN		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)	4	794	+		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)	90					Q495B9|Q53S43|Q5EBM8|Q6P5V8|Q8IV60|Q9H057	Nonsense_Mutation	SNP	ENST00000341329.3	37	c.270G>A	CCDS2464.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.545264	0.86022	.	.	ENSG00000144468	ENST00000424132;ENST00000341329;ENST00000392062;ENST00000423616;ENST00000448992	.	.	.	6.04	5.15	0.70609	.	0.103999	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.4665	16.6284	0.84993	0.0:0.0:0.869:0.131	.	.	.	.	X	90	.	ENSP00000344779:W90X	W	+	3	0	RHBDD1	227437923	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.606000	0.82863	1.524000	0.49035	0.563000	0.77884	TGG		0.423	RHBDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256885.2			7	329	0	0	0	0.278610	0	7	329				
LRRC37A4P	55073	broad.mit.edu	37	17	43587730	43587730	+	RNA	SNP	A	A	C			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr17:43587730A>C	ENST00000579913.1	-	0	1394				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		GTATTGATTCATTTTATTCAT	0.343																																						ENST00000253803.2																			0																																																			0							g.chr17:43587730A>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587730A>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.343	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		6	60	0	0	0	0.217242	0	6	60				
PNMA5	114824	broad.mit.edu	37	X	152158951	152158951	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chrX:152158951T>G	ENST00000439251.1	-	2	1630	c.1192A>C	c.(1192-1194)Agt>Cgt	p.S398R	PNMA5_ENST00000452693.1_Missense_Mutation_p.S398R|PNMA5_ENST00000361887.5_Missense_Mutation_p.S398R|PNMA5_ENST00000535214.1_Missense_Mutation_p.S398R	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	398					positive regulation of apoptotic process (GO:0043065)			p.S398R(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GTGCTTTCACTGCCTAACAGC	0.597																																						ENST00000439251.1																			1	Substitution - Missense(1)	p.S398R(1)	prostate(1)	breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1192-1194)Agt>Cgt		paraneoplastic Ma antigen family member 5							116.0	101.0	106.0					X																	152158951		2203	4300	6503	SO:0001583	missense	114824				apoptosis			g.chrX:152158951T>G	AB067521	CCDS14718.1	Xq28	2012-02-09	2012-02-09		ENSG00000198883	ENSG00000198883		"""Paraneoplastic Ma antigens"""	18743	protein-coding gene	gene with protein product	"""paraneoplastic antigen family 5"""	300916	"""paraneoplastic antigen like 5"""			16214224	Standard	NM_052926		Approved	KIAA1934	uc004fgy.4	Q96PV4	OTTHUMG00000024184	ENST00000439251.1:c.1192A>C	X.37:g.152158951T>G	ENSP00000388850:p.Ser398Arg					PNMA5_ENST00000361887.5_Missense_Mutation_p.S398R|PNMA5_ENST00000535214.1_Missense_Mutation_p.S398R|PNMA5_ENST00000452693.1_Missense_Mutation_p.S398R	p.S398R	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN			2	1630	-	Acute lymphoblastic leukemia(192;6.56e-05)		398					B4DI72|B7Z9Y9|Q495L5|Q8NET3	Missense_Mutation	SNP	ENST00000439251.1	37	c.1192A>C	CCDS14718.1	.	.	.	.	.	.	.	.	.	.	t	3.330	-0.136954	0.06711	.	.	ENSG00000198883	ENST00000361887;ENST00000535214;ENST00000439251;ENST00000452693	T;T;T;T	0.06218	3.33;3.33;3.33;3.33	2.85	-5.69	0.02428	.	.	.	.	.	T	0.01695	0.0054	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40021	-0.9585	9	0.17832	T	0.49	-5.1527	0.5727	0.00698	0.4025:0.2239:0.1955:0.1782	.	398	Q96PV4	PNMA5_HUMAN	R	398	ENSP00000354834:S398R;ENSP00000445775:S398R;ENSP00000388850:S398R;ENSP00000392342:S398R	ENSP00000354834:S398R	S	-	1	0	PNMA5	151909607	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.274000	0.02820	-2.766000	0.00367	0.237000	0.17872	AGT		0.597	PNMA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060925.1	NM_052926		74	42	0	0	0	0.870114	0	74	42				
FGA	2243	broad.mit.edu	37	4	155507194	155507194	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr4:155507194T>G	ENST00000302053.3	-	5	1465	c.1387A>C	c.(1387-1389)Aaa>Caa	p.K463Q	FGA_ENST00000403106.3_Missense_Mutation_p.K463Q	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	463					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)	p.K463Q(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GTAACGGTTTTAGAGCATGAA	0.468																																					NSCLC(143;340 1922 20892 22370 48145)	ENST00000302053.3																			1	Substitution - Missense(1)	p.K463Q(1)	prostate(1)	NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73						c.(1387-1389)Aaa>Caa		fibrinogen alpha chain	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						201.0	206.0	204.0					4																	155507194		2203	4300	6503	SO:0001583	missense	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155507194T>G		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.1387A>C	4.37:g.155507194T>G	ENSP00000306361:p.Lys463Gln					FGA_ENST00000403106.3_Missense_Mutation_p.K463Q	p.K463Q	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN			5	1465	-	all_hematologic(180;0.215)	Renal(120;0.0458)	463					A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.1387A>C	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.051848	0.75960	.	.	ENSG00000171560	ENST00000302053;ENST00000403106	T;T	0.66995	-0.24;-0.24	5.99	5.99	0.97316	Fibrinogen alpha C domain (1);	14.608000	0.00166	N	0.000000	D	0.84206	0.5421	M	0.72118	2.19	0.29660	N	0.843324	D;D	0.71674	0.997;0.998	D;D	0.69479	0.94;0.964	T	0.67027	-0.5774	10	0.87932	D	0	.	15.0653	0.71989	0.0:0.0:0.0:1.0	.	463;463	P02671-2;P02671	.;FIBA_HUMAN	Q	463	ENSP00000306361:K463Q;ENSP00000385981:K463Q	ENSP00000306361:K463Q	K	-	1	0	FGA	155726644	1.000000	0.71417	0.028000	0.17463	0.698000	0.40448	4.180000	0.58296	2.291000	0.77112	0.533000	0.62120	AAA		0.468	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		133	312	0	0	0	0.870114	0	133	312				
TSPAN2	10100	broad.mit.edu	37	1	115601593	115601593	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr1:115601593G>T	ENST00000369516.2	-	5	386	c.355C>A	c.(355-357)Cat>Aat	p.H119N	TSPAN2_ENST00000491992.1_5'Flank|TSPAN2_ENST00000369515.2_Missense_Mutation_p.H94N|TSPAN2_ENST00000369514.2_Missense_Mutation_p.H119N	NM_005725.4	NP_005716.2	O60636	TSN2_HUMAN	tetraspanin 2	119					astrocyte development (GO:0014002)|axon development (GO:0061564)|brain development (GO:0007420)|inflammatory response (GO:0006954)|microglia development (GO:0014005)|myelination (GO:0042552)|oligodendrocyte differentiation (GO:0048709)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)		p.H119N(1)		central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		GTCTGAACATGTCGGATAGCC	0.418																																						ENST00000369516.2																			1	Substitution - Missense(1)	p.H119N(1)	prostate(1)	central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10						c.(355-357)Cat>Aat		tetraspanin 2							211.0	196.0	201.0					1																	115601593		2203	4300	6503	SO:0001583	missense	10100					integral to membrane		g.chr1:115601593G>T	AF054839	CCDS881.1	1p13.1	2013-02-14			ENSG00000134198	ENSG00000134198		"""Tetraspanins"""	20659	protein-coding gene	gene with protein product		613133				9714763, 11739647	Standard	NM_005725		Approved	TSPAN-2, TSN2, FLJ12082	uc001eft.3	O60636	OTTHUMG00000011878	ENST00000369516.2:c.355C>A	1.37:g.115601593G>T	ENSP00000358529:p.His119Asn					TSPAN2_ENST00000369515.2_Missense_Mutation_p.H94N|TSPAN2_ENST00000369514.2_Missense_Mutation_p.H119N	p.H119N	NM_005725.4	NP_005716.2	O60636	TSN2_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	5	386	-	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)	119					D6PTH4|Q5TET2|Q8WU05	Missense_Mutation	SNP	ENST00000369516.2	37	c.355C>A	CCDS881.1	.	.	.	.	.	.	.	.	.	.	G	9.247	1.039864	0.19669	.	.	ENSG00000134198	ENST00000369516;ENST00000369515;ENST00000433172;ENST00000369514	T;D;T;T	0.86432	-1.19;-2.12;-1.19;-1.19	5.8	4.87	0.63330	Tetraspanin, EC2 domain (1);CD81 extracellular domain (1);	0.382688	0.34245	N	0.004136	T	0.51398	0.1672	N	0.02539	-0.55	0.29799	N	0.832637	B	0.12013	0.005	B	0.10450	0.005	T	0.34329	-0.9833	10	0.27082	T	0.32	.	8.4593	0.32919	0.0:0.2526:0.6132:0.1342	.	119	O60636	TSN2_HUMAN	N	119;94;113;119	ENSP00000358529:H119N;ENSP00000358528:H94N;ENSP00000415256:H113N;ENSP00000358527:H119N	ENSP00000358527:H119N	H	-	1	0	TSPAN2	115403116	0.989000	0.36119	0.610000	0.28997	0.387000	0.30353	2.908000	0.48750	2.755000	0.94549	0.655000	0.94253	CAT		0.418	TSPAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032828.1	NM_005725		6	325	1	0	3.59834e-05	0.217242	4.13602e-05	6	325				
U2SURP	23350	broad.mit.edu	37	3	142773862	142773862	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr3:142773862C>T	ENST00000473835.2	+	27	2942	c.2852C>T	c.(2851-2853)tCg>tTg	p.S951L	U2SURP_ENST00000493598.2_Missense_Mutation_p.S950L|U2SURP_ENST00000397933.2_Missense_Mutation_p.S542L	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	951	Arg/Ser-rich.				RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S951L(2)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						TCACCAAAATCGGAGCGATCA	0.488																																						ENST00000397933.2																			2	Substitution - Missense(2)	p.S951L(2)	prostate(2)	NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						c.(1624-1626)tCg>tTg		U2 snRNP-associated SURP domain containing							72.0	66.0	68.0					3																	142773862		1915	4134	6049	SO:0001583	missense	23350				RNA processing	nucleus	nucleotide binding|RNA binding	g.chr3:142773862C>T	BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714		"""RNA binding motif (RRM) containing"""	30855	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein a"", ""Ser/Arg-rich domain protein, 140 kDa"", ""U2 associated SR140 protein"""					9205841, 12234937	Standard	NM_001080415		Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323	ENST00000473835.2:c.2852C>T	3.37:g.142773862C>T	ENSP00000418563:p.Ser951Leu					U2SURP_ENST00000493598.2_Missense_Mutation_p.S950L|U2SURP_ENST00000473835.2_Missense_Mutation_p.S951L	p.S542L			O15042	SR140_HUMAN			26	2907	+			951			CID.		A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Missense_Mutation	SNP	ENST00000473835.2	37	c.1625C>T	CCDS46928.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.527646	0.64860	.	.	ENSG00000163714	ENST00000473835;ENST00000319822;ENST00000397933;ENST00000493598	T;T;T	0.43688	2.16;0.94;2.16	5.74	4.87	0.63330	.	0.144567	0.48767	D	0.000176	T	0.52996	0.1769	L	0.36672	1.1	0.58432	D	0.999991	D;D;D	0.69078	0.997;0.997;0.994	D;D;P	0.66847	0.947;0.947;0.885	T	0.53380	-0.8447	10	0.46703	T	0.11	-4.4285	15.1583	0.72761	0.0:0.9322:0.0:0.0678	.	950;542;951	O15042-2;O15042-3;O15042	.;.;SR140_HUMAN	L	951;951;542;950	ENSP00000418563:S951L;ENSP00000381027:S542L;ENSP00000422011:S950L	ENSP00000322376:S951L	S	+	2	0	U2SURP	144256552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.586000	0.74067	1.577000	0.49804	0.563000	0.77884	TCG		0.488	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354603.2	NM_001080415		10	13	0	0	0	0.361761	0	10	13				
FMNL2	114793	broad.mit.edu	37	2	153475624	153475624	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr2:153475624C>T	ENST00000288670.9	+	14	1946	c.1579C>T	c.(1579-1581)Ccc>Tcc	p.P527S	FMNL2_ENST00000475377.2_5'Flank	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	527	Pro-rich.				cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)		p.P527S(1)		central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						AGGACCCTTGCCCCCTCCTCC	0.542																																						ENST00000288670.9																			1	Substitution - Missense(1)	p.P527S(1)	prostate(1)	central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						c.(1579-1581)Ccc>Tcc		formin-like 2							45.0	48.0	47.0					2																	153475624		1965	4143	6108	SO:0001583	missense	114793				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding	g.chr2:153475624C>T	AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"""formin homology 2 domain containing 2"""	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000288670.9:c.1579C>T	2.37:g.153475624C>T	ENSP00000288670:p.Pro527Ser						p.P527S	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN			14	1946	+			527			Pro-rich.		B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Missense_Mutation	SNP	ENST00000288670.9	37	c.1579C>T	CCDS46429.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.580324	0.28180	.	.	ENSG00000157827	ENST00000288670;ENST00000421344	T	0.81330	-1.48	5.57	2.74	0.32292	.	0.554675	0.21497	N	0.073582	T	0.65831	0.2729	L	0.27053	0.805	0.80722	D	1	B	0.22683	0.073	B	0.21917	0.037	T	0.52689	-0.8542	10	0.07644	T	0.81	.	11.9094	0.52731	0.1257:0.6192:0.2551:0.0	.	527	Q96PY5-3	.	S	527;24	ENSP00000288670:P527S	ENSP00000288670:P527S	P	+	1	0	FMNL2	153183870	0.997000	0.39634	0.132000	0.22025	0.183000	0.23260	1.813000	0.38962	0.279000	0.22186	-0.885000	0.02943	CCC		0.542	FMNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333582.2	NM_052905		22	43	0	0	0	0.639603	0	22	43				
MT-ND5	4540	broad.mit.edu	37	M	14097	14097	+	Silent	SNP	C	C	T			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chrM:14097C>T	ENST00000361567.2	+	1	1761	c.1761C>T	c.(1759-1761)taC>taT	p.Y587Y	MT-CYB_ENST00000361789.2_5'Flank|MT-TS2_ENST00000387449.1_RNA|MT-TE_ENST00000387459.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-TP_ENST00000387461.2_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TT_ENST00000387460.2_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	587					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						ATTAAACTTTACTTCCTCTCT	0.388																																						ENST00000361567.2																			0				breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						c.(1759-1761)taC>taT		mitochondrially encoded NADH dehydrogenase 5	NADH(DB00157)																																			SO:0001819	synonymous_variant	4540				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chrM:14097C>T			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.1761C>T	M.37:g.14097C>T							p.Y587Y			P03915	NU5M_HUMAN			1	1761	+			587					Q34773|Q8WCY3	Silent	SNP	ENST00000361567.2	37	c.1761C>T																																																																																					0.388	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024036		25	2	0	0	0	0.750413	0	25	2				
SPATA5L1	79029	broad.mit.edu	37	15	45695108	45695108	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr15:45695108G>A	ENST00000305560.6	+	1	580	c.481G>A	c.(481-483)Gct>Act	p.A161T	GATM_ENST00000458245.5_5'Flank|SPATA5L1_ENST00000559860.1_Missense_Mutation_p.A161T	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	161						cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.A161T(1)		kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		TGGCCTGGTGGCTGCCTTGCA	0.711																																						ENST00000305560.6																			1	Substitution - Missense(1)	p.A161T(1)	prostate(1)	kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						c.(481-483)Gct>Act		spermatogenesis associated 5-like 1							20.0	20.0	20.0					15																	45695108		2053	4093	6146	SO:0001583	missense	79029					cytoplasm	ATP binding|nucleoside-triphosphatase activity	g.chr15:45695108G>A	AK023232	CCDS10123.1	15q15.1	2010-04-21			ENSG00000171763	ENSG00000171763		"""ATPases / AAA-type"""	28762	protein-coding gene	gene with protein product						12477932	Standard	NM_024063		Approved	MGC5347, FLJ12286	uc001zve.3	Q9BVQ7	OTTHUMG00000131425	ENST00000305560.6:c.481G>A	15.37:g.45695108G>A	ENSP00000305494:p.Ala161Thr					SPATA5L1_ENST00000559860.1_Missense_Mutation_p.A161T	p.A161T	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)	1	580	+		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)	161					C9JHR5|Q9H8W7|Q9HA41	Missense_Mutation	SNP	ENST00000305560.6	37	c.481G>A	CCDS10123.1	.	.	.	.	.	.	.	.	.	.	g	9.108	1.005952	0.19199	.	.	ENSG00000171763	ENST00000305560	D	0.93604	-3.25	4.58	3.67	0.42095	.	0.650048	0.16252	N	0.222643	D	0.89396	0.6703	M	0.63428	1.95	0.24389	N	0.994758	P	0.39480	0.675	B	0.33960	0.173	T	0.78922	-0.2013	10	0.13470	T	0.59	-2.9841	11.5161	0.50522	0.0881:0.0:0.9119:0.0	.	161	Q9BVQ7	SPA5L_HUMAN	T	161	ENSP00000305494:A161T	ENSP00000305494:A161T	A	+	1	0	SPATA5L1	43482400	0.966000	0.33281	0.885000	0.34714	0.128000	0.20619	1.817000	0.39002	1.167000	0.42706	-0.150000	0.13652	GCT		0.711	SPATA5L1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254218.1	NM_024063		7	37	0	0	0	0.248553	0	7	37				
DUS3L	56931	broad.mit.edu	37	19	5787682	5787682	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr19:5787682C>T	ENST00000309061.7	-	6	1226	c.1130G>A	c.(1129-1131)tGt>tAt	p.C377Y	DUS3L_ENST00000320699.8_Missense_Mutation_p.C135Y|CTB-54O9.9_ENST00000586012.1_5'Flank|PRR22_ENST00000419421.2_5'Flank|DUS3L_ENST00000590681.1_5'Flank	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	377							flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA dihydrouridine synthase activity (GO:0017150)	p.C377Y(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						CAGCTCGGCACACTTGGTCAT	0.627																																						ENST00000309061.7																			1	Substitution - Missense(1)	p.C377Y(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						c.(1129-1131)tGt>tAt		dihydrouridine synthase 3-like (S. cerevisiae)							156.0	136.0	143.0					19																	5787682		2203	4300	6503	SO:0001583	missense	56931				tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding	g.chr19:5787682C>T		CCDS32880.1, CCDS54202.1	19p13.3	2014-02-12			ENSG00000141994	ENSG00000141994			26920	protein-coding gene	gene with protein product						12477932	Standard	NM_020175		Approved	DUS3, FLJ13896	uc002mdc.3	Q96G46	OTTHUMG00000162311	ENST00000309061.7:c.1130G>A	19.37:g.5787682C>T	ENSP00000311977:p.Cys377Tyr					DUS3L_ENST00000320699.8_Missense_Mutation_p.C135Y	p.C377Y	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN			6	1226	-			377					Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Missense_Mutation	SNP	ENST00000309061.7	37	c.1130G>A	CCDS32880.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.552413	0.65311	.	.	ENSG00000141994	ENST00000309061;ENST00000320699	T;T	0.31510	1.49;1.49	3.67	3.67	0.42095	Aldolase-type TIM barrel (1);	0.000000	0.85682	U	0.000000	T	0.56411	0.1983	M	0.85945	2.785	0.53688	D	0.999975	P;D	0.58620	0.917;0.983	P;D	0.65684	0.496;0.937	T	0.65278	-0.6207	10	0.87932	D	0	-6.9138	12.9484	0.58386	0.0:1.0:0.0:0.0	.	135;377	Q96G46-3;Q96G46	.;DUS3L_HUMAN	Y	377;135	ENSP00000311977:C377Y;ENSP00000315558:C135Y	ENSP00000311977:C377Y	C	-	2	0	DUS3L	5738682	1.000000	0.71417	0.881000	0.34555	0.904000	0.53231	7.460000	0.80816	1.620000	0.50308	0.456000	0.33151	TGT		0.627	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451870.2	NM_020175		64	139	0	0	0	0.870114	0	64	139				
AXL	558	broad.mit.edu	37	19	41763458	41763458	+	Missense_Mutation	SNP	G	G	A	rs372169583		TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr19:41763458G>A	ENST00000301178.4	+	19	2447	c.2257G>A	c.(2257-2259)Gtg>Atg	p.V753M	AXL_ENST00000359092.3_Missense_Mutation_p.V744M|AXL_ENST00000593513.1_Missense_Mutation_p.V485M	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	753	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.V744M(2)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						ATATCCGGGCGTGGAGAACAG	0.567																																						ENST00000301178.4																			2	Substitution - Missense(2)	p.V744M(2)	prostate(2)	breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						c.(2257-2259)Gtg>Atg		AXL receptor tyrosine kinase		G	MET/VAL,MET/VAL	0,4406		0,0,2203	140.0	125.0	130.0		2230,2257	4.9	1.0	19		130	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	AXL	NM_001699.4,NM_021913.3	21,21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	744/886,753/895	41763458	1,13005	2203	4300	6503	SO:0001583	missense	558					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr19:41763458G>A	M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.2257G>A	19.37:g.41763458G>A	ENSP00000301178:p.Val753Met					AXL_ENST00000593513.1_Missense_Mutation_p.V485M|AXL_ENST00000359092.3_Missense_Mutation_p.V744M	p.V753M	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN			19	2447	+			753			Protein kinase.		Q8N5L2|Q9UD27	Missense_Mutation	SNP	ENST00000301178.4	37	c.2257G>A	CCDS12575.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.496413	0.85069	0.0	1.16E-4	ENSG00000167601	ENST00000301178;ENST00000359092	D;D	0.82433	-1.61;-1.61	4.89	4.89	0.63831	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	D	0.82486	0.5047	N	0.05330	-0.07	0.45621	D	0.99855	D;D	0.89917	1.0;1.0	D;D	0.81914	0.992;0.995	D	0.85369	0.1112	10	0.49607	T	0.09	-15.4127	17.3451	0.87308	0.0:0.0:1.0:0.0	.	744;753	P30530-2;P30530	.;UFO_HUMAN	M	753;744	ENSP00000301178:V753M;ENSP00000351995:V744M	ENSP00000301178:V753M	V	+	1	0	AXL	46455298	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	5.468000	0.66743	2.706000	0.92434	0.650000	0.86243	GTG		0.567	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2			63	137	0	0	0	0.870114	0	63	137				
SRMS	6725	broad.mit.edu	37	20	62172641	62172641	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr20:62172641C>G	ENST00000217188.1	-	7	1228	c.1188G>C	c.(1186-1188)gaG>gaC	p.E396D		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	396	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-tyrosine autophosphorylation (GO:0038083)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.E396D(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			AATTGGCCGCCTCAGGCGCTG	0.617																																						ENST00000217188.1																			1	Substitution - Missense(1)	p.E396D(1)	prostate(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19						c.(1186-1188)gaG>gaC		src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites							108.0	117.0	114.0					20																	62172641		2203	4299	6502	SO:0001583	missense	6725						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr20:62172641C>G		CCDS13525.1	20q13.33	2013-02-14	2003-08-22		ENSG00000125508	ENSG00000125508		"""SH2 domain containing"""	11298	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 148"""	C20orf148		7935409	Standard	NM_080823		Approved	SRM, dJ697K14.1	uc002yfi.1	Q9H3Y6	OTTHUMG00000032977	ENST00000217188.1:c.1188G>C	20.37:g.62172641C>G	ENSP00000217188:p.Glu396Asp						p.E396D	NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)		7	1228	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		396			Protein kinase.			Missense_Mutation	SNP	ENST00000217188.1	37	c.1188G>C	CCDS13525.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.710691	0.48517	.	.	ENSG00000125508	ENST00000217188	T	0.36157	1.27	4.84	2.86	0.33363	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000025	T	0.65333	0.2681	H	0.94698	3.57	0.40396	D	0.979594	D	0.60160	0.987	D	0.65573	0.936	T	0.74331	-0.3700	10	0.87932	D	0	.	10.4146	0.44314	0.0:0.7712:0.0:0.2288	.	396	Q9H3Y6	SRMS_HUMAN	D	396	ENSP00000217188:E396D	ENSP00000217188:E396D	E	-	3	2	SRMS	61643085	0.979000	0.34478	0.959000	0.39883	0.125000	0.20455	0.144000	0.16135	1.179000	0.42884	0.561000	0.74099	GAG		0.617	SRMS-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080148.1	NM_080823		45	229	0	0	0	0.870114	0	45	229				
PPAT	5471	broad.mit.edu	37	4	57272694	57272694	+	Silent	SNP	G	G	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr4:57272694G>A	ENST00000264220.2	-	3	506	c.369C>T	c.(367-369)ggC>ggT	p.G123G	PPAT_ENST00000507648.1_5'UTR	NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	123	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				'de novo' IMP biosynthetic process (GO:0006189)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|G1/S transition of mitotic cell cycle (GO:0000082)|glutamine catabolic process (GO:0006543)|kidney development (GO:0001822)|lactation (GO:0007595)|maternal process involved in female pregnancy (GO:0060135)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|protein homotetramerization (GO:0051289)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|amidophosphoribosyltransferase activity (GO:0004044)|metal ion binding (GO:0046872)	p.G123G(1)		cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20	Glioma(25;0.08)|all_neural(26;0.101)				Fluorouracil(DB00544)|L-Glutamine(DB00130)|Mercaptopurine(DB01033)	TTACCAATTCGCCATTATGTG	0.393																																						ENST00000264220.2																			1	Substitution - coding silent(1)	p.G123G(1)	prostate(1)	cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20						c.(367-369)ggC>ggT		phosphoribosyl pyrophosphate amidotransferase	L-Glutamine(DB00130)|Thioguanine(DB00352)						160.0	136.0	144.0					4																	57272694		2203	4300	6503	SO:0001819	synonymous_variant	5471				glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process	cytosol	4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding	g.chr4:57272694G>A		CCDS3505.1	4q12	2012-10-02			ENSG00000128059	ENSG00000128059	2.4.2.14		9238	protein-coding gene	gene with protein product		172450					Standard	NM_002703		Approved	GPAT, PRAT	uc003hbr.3	Q06203	OTTHUMG00000128842	ENST00000264220.2:c.369C>T	4.37:g.57272694G>A						PPAT_ENST00000507648.1_5'UTR	p.G123G	NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN			3	506	-	Glioma(25;0.08)|all_neural(26;0.101)		123			Glutamine amidotransferase type-2.			Silent	SNP	ENST00000264220.2	37	c.369C>T	CCDS3505.1																																																																																				0.393	PPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250781.2	NM_002703		81	170	0	0	0	0.870114	0	81	170				
TPRN	286262	broad.mit.edu	37	9	140086590	140086590	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr9:140086590G>A	ENST00000409012.4	-	4	2196	c.2110C>T	c.(2110-2112)Cgc>Tgc	p.R704C	TPRN_ENST00000541945.1_5'Flank|TPRN_ENST00000321773.2_Missense_Mutation_p.R671C	NM_001128228.2	NP_001121700.2	Q4KMQ1	TPRN_HUMAN	taperin	704					sensory perception of sound (GO:0007605)	stereocilium (GO:0032420)		p.R426C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						GGCTCGCTGCGGAAGTCCGAG	0.627																																						ENST00000409012.4																			1	Substitution - Missense(1)	p.R426C(1)	prostate(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						c.(2110-2112)Cgc>Tgc		taperin							53.0	60.0	58.0					9																	140086590		2203	4300	6503	SO:0001583	missense	286262				sensory perception of sound	stereocilium		g.chr9:140086590G>A	AK074735	CCDS56594.1	9q34.3	2011-01-06	2010-03-24	2010-03-24	ENSG00000176058	ENSG00000176058			26894	protein-coding gene	gene with protein product		613354	"""chromosome 9 open reading frame 75"", ""deafness, autosomal recessive 79"""	C9orf75, DFNB79		20170898, 20170899	Standard	NM_001128228		Approved	FLJ90254	uc004clu.3	Q4KMQ1	OTTHUMG00000020984	ENST00000409012.4:c.2110C>T	9.37:g.140086590G>A	ENSP00000387100:p.Arg704Cys					TPRN_ENST00000321773.2_Missense_Mutation_p.R671C	p.R704C	NM_001128228.2	NP_001121700.2	Q4KMQ1	TPRN_HUMAN			4	2196	-			704					B7ZKU5|Q5VSG5|Q5VSG6|Q6IPP2|Q8NCH2	Missense_Mutation	SNP	ENST00000409012.4	37	c.2110C>T	CCDS56594.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.230771	0.58777	.	.	ENSG00000176058	ENST00000333046;ENST00000409012;ENST00000321773	.	.	.	4.78	4.78	0.61160	.	0.066523	0.64402	D	0.000019	T	0.64605	0.2613	L	0.32530	0.975	0.46317	D	0.998986	D	0.89917	1.0	D	0.68621	0.959	T	0.67952	-0.5537	9	0.72032	D	0.01	-16.4157	13.2896	0.60264	0.0:0.0:1.0:0.0	.	704	Q4KMQ1	TPRN_HUMAN	C	530;704;671	.	ENSP00000313704:R671C	R	-	1	0	TPRN	139206411	1.000000	0.71417	1.000000	0.80357	0.603000	0.37013	2.904000	0.48719	2.213000	0.71641	0.462000	0.41574	CGC		0.627	TPRN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055323.3	NM_173691		18	40	0	0	0	0.804634	0	18	40				
SETD5	55209	broad.mit.edu	37	3	9482306	9482306	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr3:9482306G>A	ENST00000406341.1	+	7	924	c.734G>A	c.(733-735)gGc>gAc	p.G245D	SETD5_ENST00000302463.6_Missense_Mutation_p.G147D|SETD5_ENST00000402198.1_Missense_Mutation_p.G245D|SETD5_ENST00000402466.1_Missense_Mutation_p.G147D|SETD5_ENST00000407969.1_Missense_Mutation_p.G264D			Q9C0A6	SETD5_HUMAN	SET domain containing 5	245								p.G147D(1)|p.G245D(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		GAATTTGTGGGCAAACCTACT	0.408																																						ENST00000402466.1																			2	Substitution - Missense(2)	p.G147D(1)|p.G245D(1)	prostate(2)	NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(439-441)gGc>gAc		SET domain containing 5							88.0	83.0	85.0					3																	9482306		1889	4111	6000	SO:0001583	missense	55209							g.chr3:9482306G>A	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.734G>A	3.37:g.9482306G>A	ENSP00000383939:p.Gly245Asp					SETD5_ENST00000302463.6_Missense_Mutation_p.G147D|SETD5_ENST00000407969.1_Missense_Mutation_p.G264D|SETD5_ENST00000402198.1_Missense_Mutation_p.G245D|SETD5_ENST00000406341.1_Missense_Mutation_p.G245D	p.G147D			Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	9	1208	+	Medulloblastoma(99;0.227)		245					Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	c.440G>A	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.272122	0.80469	.	.	ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000442373;ENST00000302463	D;D;D;D;T;D	0.93133	-2.83;-3.17;-2.83;-2.81;0.76;-3.17	5.33	5.33	0.75918	.	0.267216	0.38605	N	0.001638	D	0.94883	0.8346	L	0.36672	1.1	0.41898	D	0.990407	D;D;D	0.71674	0.998;0.998;0.979	D;D;P	0.68192	0.956;0.914;0.771	D	0.95347	0.8443	10	0.66056	D	0.02	-5.6254	19.4544	0.94882	0.0:0.0:1.0:0.0	.	147;245;264	Q9C0A6-3;Q9C0A6;E7EWN3	.;SETD5_HUMAN;.	D	245;147;245;264;134;147	ENSP00000385852:G245D;ENSP00000384429:G147D;ENSP00000383939:G245D;ENSP00000384114:G264D;ENSP00000408837:G134D;ENSP00000302028:G147D	ENSP00000302028:G147D	G	+	2	0	SETD5	9457306	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.786000	0.69006	2.693000	0.91896	0.650000	0.86243	GGC		0.408	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		5	39	0	0	0	0.592651	0	5	39				
SERPINB2	5055	broad.mit.edu	37	18	61558743	61558743	+	Missense_Mutation	SNP	C	C	G	rs376346521		TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr18:61558743C>G	ENST00000299502.4	+	2	145	c.65C>G	c.(64-66)gCa>gGa	p.A22G	SERPINB2_ENST00000457692.1_Missense_Mutation_p.A22G	NM_002575.2	NP_002566.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	22					blood coagulation (GO:0007596)|fibrinolysis (GO:0042730)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.A22G(1)		NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Tenecteplase(DB00031)|Urokinase(DB00013)	CTGGCAAAAGCAAGCCCCACC	0.502																																						ENST00000457692.1																			1	Substitution - Missense(1)	p.A22G(1)	prostate(1)	NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32						c.(64-66)gCa>gGa		serpin peptidase inhibitor, clade B (ovalbumin), member 2	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	C	GLY/ALA,GLY/ALA	0,4406		0,0,2203	98.0	92.0	94.0		65,65	-3.8	0.0	18		94	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SERPINB2	NM_001143818.1,NM_002575.2	60,60	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	benign,benign	22/416,22/416	61558743	1,13005	2203	4300	6503	SO:0001583	missense	5055				anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr18:61558743C>G	Y00630	CCDS11989.1	18q21.3	2014-02-18	2005-08-18		ENSG00000197632	ENSG00000197632		"""Serine (or cysteine) peptidase inhibitors"""	8584	protein-coding gene	gene with protein product		173390	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 2"""	PLANH2, PAI2		24172014	Standard	NM_002575		Approved	HsT1201	uc002ljo.3	P05120	OTTHUMG00000060592	ENST00000299502.4:c.65C>G	18.37:g.61558743C>G	ENSP00000299502:p.Ala22Gly					SERPINB2_ENST00000299502.4_Missense_Mutation_p.A22G	p.A22G	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN			3	398	+		Esophageal squamous(42;0.131)	22					Q96E96	Missense_Mutation	SNP	ENST00000299502.4	37	c.65C>G	CCDS11989.1	.	.	.	.	.	.	.	.	.	.	C	1.196	-0.633763	0.03584	0.0	1.16E-4	ENSG00000197632	ENST00000404622;ENST00000299502;ENST00000457692;ENST00000413956;ENST00000443281	D;D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83;-1.83	5.29	-3.82	0.04281	Serpin domain (3);	3.027290	0.00888	N	0.002207	T	0.71409	0.3336	N	0.20328	0.56	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.55179	-0.8181	10	0.32370	T	0.25	.	2.7491	0.05275	0.1224:0.2667:0.1203:0.4906	.	22	P05120	PAI2_HUMAN	G	22	ENSP00000385397:A22G;ENSP00000299502:A22G;ENSP00000401645:A22G;ENSP00000402386:A22G;ENSP00000397096:A22G	ENSP00000299502:A22G	A	+	2	0	SERPINB2	59709723	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.540000	0.02200	-0.738000	0.04817	-0.312000	0.09012	GCA		0.502	SERPINB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134009.1	NM_002575		41	36	0	0	0	0.827153	0	41	36				
SPATA5L1	79029	broad.mit.edu	37	15	45695169	45695169	+	Missense_Mutation	SNP	G	G	T	rs375963623	byFrequency	TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr15:45695169G>T	ENST00000305560.6	+	1	641	c.542G>T	c.(541-543)cGt>cTt	p.R181L	GATM_ENST00000458245.5_5'Flank|SPATA5L1_ENST00000559860.1_Missense_Mutation_p.R181L	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	181						cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.R181L(1)		kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		GTCACCCCTCGTACCCGCGTC	0.736																																						ENST00000305560.6																			1	Substitution - Missense(1)	p.R181L(1)	prostate(1)	kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						c.(541-543)cGt>cTt		spermatogenesis associated 5-like 1							12.0	15.0	14.0					15																	45695169		2149	4225	6374	SO:0001583	missense	79029					cytoplasm	ATP binding|nucleoside-triphosphatase activity	g.chr15:45695169G>T	AK023232	CCDS10123.1	15q15.1	2010-04-21			ENSG00000171763	ENSG00000171763		"""ATPases / AAA-type"""	28762	protein-coding gene	gene with protein product						12477932	Standard	NM_024063		Approved	MGC5347, FLJ12286	uc001zve.3	Q9BVQ7	OTTHUMG00000131425	ENST00000305560.6:c.542G>T	15.37:g.45695169G>T	ENSP00000305494:p.Arg181Leu					SPATA5L1_ENST00000559860.1_Missense_Mutation_p.R181L	p.R181L	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)	1	641	+		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)	181					C9JHR5|Q9H8W7|Q9HA41	Missense_Mutation	SNP	ENST00000305560.6	37	c.542G>T	CCDS10123.1	.	.	.	.	.	.	.	.	.	.	g	4.949	0.176294	0.09443	.	.	ENSG00000171763	ENST00000305560	D	0.93859	-3.3	4.5	-0.307	0.12777	.	0.483471	0.23148	N	0.051391	D	0.88959	0.6579	L	0.47716	1.5	0.09310	N	1	B	0.23185	0.081	B	0.24006	0.05	T	0.80390	-0.1402	10	0.62326	D	0.03	-14.1093	10.2842	0.43558	0.5449:0.0:0.4551:0.0	.	181	Q9BVQ7	SPA5L_HUMAN	L	181	ENSP00000305494:R181L	ENSP00000305494:R181L	R	+	2	0	SPATA5L1	43482461	0.000000	0.05858	0.108000	0.21378	0.005000	0.04900	0.175000	0.16762	-0.185000	0.10550	-0.829000	0.03081	CGT		0.736	SPATA5L1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254218.1	NM_024063		3	23	1	0	0.004672	0.115264	0.00524944	3	23				
LPHN3	23284	broad.mit.edu	37	4	62598777	62598777	+	Missense_Mutation	SNP	C	C	T	rs548241584		TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr4:62598777C>T	ENST00000514591.1	+	7	1029	c.700C>T	c.(700-702)Cgg>Tgg	p.R234W	LPHN3_ENST00000506700.1_Missense_Mutation_p.R234W|LPHN3_ENST00000508693.1_Missense_Mutation_p.R302W|LPHN3_ENST00000506720.1_Missense_Mutation_p.R302W|LPHN3_ENST00000506746.1_Missense_Mutation_p.R302W|LPHN3_ENST00000512091.2_Missense_Mutation_p.R234W|LPHN3_ENST00000545650.1_Missense_Mutation_p.R234W|LPHN3_ENST00000514996.1_Missense_Mutation_p.R234W|LPHN3_ENST00000504896.1_Missense_Mutation_p.R234W|LPHN3_ENST00000509896.1_Missense_Mutation_p.R302W|LPHN3_ENST00000508946.1_Missense_Mutation_p.R234W|LPHN3_ENST00000511324.1_Missense_Mutation_p.R302W|LPHN3_ENST00000514157.1_Missense_Mutation_p.R234W|LPHN3_ENST00000507164.1_Missense_Mutation_p.R302W|LPHN3_ENST00000507625.1_Missense_Mutation_p.R302W			Q9HAR2	LPHN3_HUMAN	latrophilin 3	234	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.R234W(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GTTTGATTTGCGGACTAGGAT	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		19609	0.0		0.001	False		,,,				2504	0.0					ENST00000512091.1																			3	Substitution - Missense(3)	p.R234W(3)	prostate(3)	breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						c.(700-702)Cgg>Tgg		latrophilin 3							77.0	72.0	73.0					4																	62598777		1903	4117	6020	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62598777C>T	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.700C>T	4.37:g.62598777C>T	ENSP00000422533:p.Arg234Trp					LPHN3_ENST00000508946.1_Missense_Mutation_p.R234W|LPHN3_ENST00000506700.1_Missense_Mutation_p.R234W|LPHN3_ENST00000514157.1_Missense_Mutation_p.R234W|LPHN3_ENST00000504896.1_Missense_Mutation_p.R234W|LPHN3_ENST00000509896.1_Missense_Mutation_p.R302W|LPHN3_ENST00000545650.1_Missense_Mutation_p.R234W|LPHN3_ENST00000514591.1_Missense_Mutation_p.R234W|LPHN3_ENST00000508693.1_Missense_Mutation_p.R302W|LPHN3_ENST00000507625.1_Missense_Mutation_p.R302W|LPHN3_ENST00000507164.1_Missense_Mutation_p.R302W|LPHN3_ENST00000506720.1_Missense_Mutation_p.R302W|LPHN3_ENST00000514996.1_Missense_Mutation_p.R234W|LPHN3_ENST00000506746.1_Missense_Mutation_p.R302W|LPHN3_ENST00000511324.1_Missense_Mutation_p.R302W	p.R234W			Q9HAR2	LPHN3_HUMAN			7	1447	+			234			Olfactomedin-like.		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.700C>T	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.919325	0.52546	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91407	-2.84;-2.84;-2.84;-2.84;-2.84;-2.84;-2.84;-2.84;-2.84;-2.84;-2.84;-2.84;-2.84;-2.84;-2.84	5.26	2.36	0.29203	.	0.000000	0.85682	D	0.000000	D	0.95271	0.8466	M	0.86420	2.815	0.51012	D	0.999909	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.992	D	0.94655	0.7843	10	0.87932	D	0	.	13.0725	0.59070	0.5698:0.4302:0.0:0.0	.	234;302;234	E9PE04;E7EN28;Q9HAR2-2	.;.;.	W	234;234;302;302;234;234;234;234;234;302;302;302;234;234;234;302;302;234	ENSP00000423388:R234W;ENSP00000422533:R234W;ENSP00000423787:R302W;ENSP00000425033:R302W;ENSP00000424120:R234W;ENSP00000439831:R234W;ENSP00000421476:R302W;ENSP00000424030:R302W;ENSP00000421372:R302W;ENSP00000425201:R234W;ENSP00000423434:R234W;ENSP00000421627:R234W;ENSP00000420931:R302W;ENSP00000425884:R302W;ENSP00000424258:R234W	ENSP00000280009:R234W	R	+	1	2	LPHN3	62281372	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.559000	0.36320	0.139000	0.18822	0.557000	0.71058	CGG		0.468	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			15	41	0	0	0	0.500413	0	15	41				
KCND2	3751	broad.mit.edu	37	7	120381668	120381668	+	Silent	SNP	C	C	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr7:120381668C>A	ENST00000331113.4	+	3	2324	c.1359C>A	c.(1357-1359)ctC>ctA	p.L453L		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	453					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.L453L(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	ATGGTTTACTCAGTAATCAGC	0.358																																						ENST00000331113.4																			1	Substitution - coding silent(1)	p.L453L(1)	prostate(1)	NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75						c.(1357-1359)ctC>ctA		potassium voltage-gated channel, Shal-related subfamily, member 2							89.0	95.0	93.0					7																	120381668		2203	4300	6503	SO:0001819	synonymous_variant	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:120381668C>A	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.1359C>A	7.37:g.120381668C>A							p.L453L	NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN			3	2324	+	all_neural(327;0.117)		453					O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Silent	SNP	ENST00000331113.4	37	c.1359C>A	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	C	8.647	0.897368	0.17686	.	.	ENSG00000184408	ENST00000425288	.	.	.	5.11	2.04	0.26737	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.3719	0.16144	0.1106:0.4649:0.3374:0.087	.	.	.	.	X	39	.	.	S	+	2	0	KCND2	120168904	0.998000	0.40836	1.000000	0.80357	0.992000	0.81027	0.395000	0.20850	1.114000	0.41781	0.650000	0.86243	TCA		0.358	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		30	48	1	0	1.7881e-09	0.729181	2.15434e-09	30	48				
MTCL1	23255	broad.mit.edu	37	18	8798101	8798101	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr18:8798101C>A	ENST00000306329.11	+	8	3205	c.3205C>A	c.(3205-3207)Cat>Aat	p.H1069N	SOGA2_ENST00000359865.3_Missense_Mutation_p.H750N|SOGA2_ENST00000400050.3_Missense_Mutation_p.H709N|SOGA2_ENST00000517570.1_Missense_Mutation_p.H709N|SOGA2_ENST00000518815.1_Missense_Mutation_p.H65N|SOGA2_ENST00000306285.7_Missense_Mutation_p.H65N														p.H750N(1)									TCAGGGTGAACATCCAGAGAC	0.547																																						ENST00000359865.3																			1	Substitution - Missense(1)	p.H750N(1)	prostate(1)								c.(2248-2250)Cat>Aat		SOGA family member 2							46.0	41.0	43.0					18																	8798101		2203	4300	6503	SO:0001583	missense	23255							g.chr18:8798101C>A																												ENST00000306329.11:c.3205C>A	18.37:g.8798101C>A	ENSP00000305027:p.His1069Asn					SOGA2_ENST00000518815.1_Missense_Mutation_p.H65N|SOGA2_ENST00000517570.1_Missense_Mutation_p.H709N|SOGA2_ENST00000306329.11_Missense_Mutation_p.H1069N|SOGA2_ENST00000306285.7_Missense_Mutation_p.H65N|SOGA2_ENST00000400050.3_Missense_Mutation_p.H709N	p.H750N	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN			10	2390	+			1060						Missense_Mutation	SNP	ENST00000306329.11	37	c.2248C>A		.	.	.	.	.	.	.	.	.	.	C	9.799	1.180012	0.21787	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050;ENST00000306285	T;T;T;T	0.53423	0.62;0.62;0.62;0.62	5.28	5.28	0.74379	.	0.257624	0.28119	N	0.016539	T	0.40347	0.1113	L	0.43152	1.355	0.26750	N	0.970219	B;B	0.12630	0.006;0.006	B;B	0.11329	0.003;0.006	T	0.16012	-1.0417	10	0.15499	T	0.54	-7.4936	16.0043	0.80349	0.0:1.0:0.0:0.0	.	1060;750	Q9Y4B5;Q9Y4B5-3	CC165_HUMAN;.	N	771;709;750;709;65	ENSP00000429556:H709N;ENSP00000352927:H750N;ENSP00000382924:H709N;ENSP00000303670:H65N	ENSP00000303670:H65N	H	+	1	0	CCDC165	8788101	0.998000	0.40836	0.967000	0.41034	0.149000	0.21700	2.951000	0.49089	2.630000	0.89119	0.650000	0.86243	CAT		0.547	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			3	59	1	0	0.00909568	0.150653	0.00999525	3	59				
GPT2	84706	broad.mit.edu	37	16	46943652	46943652	+	Silent	SNP	C	C	T			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr16:46943652C>T	ENST00000340124.4	+	6	745	c.633C>T	c.(631-633)atC>atT	p.I211I	GPT2_ENST00000440783.2_Silent_p.I111I	NM_133443.2	NP_597700.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	211					2-oxoglutarate metabolic process (GO:0006103)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|L-alanine metabolic process (GO:0042851)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)	p.I211I(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|Phenelzine(DB00780)	GTGTGATGATCCCCATCCCAC	0.537																																						ENST00000440783.2																			1	Substitution - coding silent(1)	p.I211I(1)	prostate(1)	NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23						c.(331-333)atC>atT		glutamic pyruvate transaminase (alanine aminotransferase) 2	L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						78.0	75.0	76.0					16																	46943652		2203	4300	6503	SO:0001819	synonymous_variant	84706				2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process	mitochondrial matrix	L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr16:46943652C>T		CCDS10725.1, CCDS45478.1	16q12.1	2008-02-05			ENSG00000166123	ENSG00000166123	2.6.1.2		18062	protein-coding gene	gene with protein product		138210					Standard	NM_133443		Approved	ALT2	uc002eel.3	Q8TD30	OTTHUMG00000132541	ENST00000340124.4:c.633C>T	16.37:g.46943652C>T						GPT2_ENST00000340124.4_Silent_p.I211I	p.I111I	NM_001142466.1	NP_001135938.1	Q8TD30	ALAT2_HUMAN			6	998	+		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)	211					Q8N9E2	Silent	SNP	ENST00000340124.4	37	c.333C>T	CCDS10725.1																																																																																				0.537	GPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255741.2			118	81	0	0	0	0.870114	0	118	81				
SETD5	55209	broad.mit.edu	37	3	9482199	9482199	+	Silent	SNP	G	G	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr3:9482199G>A	ENST00000406341.1	+	7	817	c.627G>A	c.(625-627)cgG>cgA	p.R209R	SETD5_ENST00000302463.6_Silent_p.R111R|SETD5_ENST00000402198.1_Silent_p.R209R|SETD5_ENST00000402466.1_Silent_p.R111R|SETD5_ENST00000407969.1_Silent_p.R228R			Q9C0A6	SETD5_HUMAN	SET domain containing 5	209								p.R111R(1)|p.R209R(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		GGGAAAATCGGATAAGACTAT	0.413																																						ENST00000402466.1																			2	Substitution - coding silent(2)	p.R111R(1)|p.R209R(1)	prostate(2)	NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(331-333)cgG>cgA		SET domain containing 5							75.0	71.0	72.0					3																	9482199		1861	4085	5946	SO:0001819	synonymous_variant	55209							g.chr3:9482199G>A	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.627G>A	3.37:g.9482199G>A						SETD5_ENST00000302463.6_Silent_p.R111R|SETD5_ENST00000407969.1_Silent_p.R228R|SETD5_ENST00000402198.1_Silent_p.R209R|SETD5_ENST00000406341.1_Silent_p.R209R	p.R111R			Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	9	1101	+	Medulloblastoma(99;0.227)		209					Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Silent	SNP	ENST00000406341.1	37	c.333G>A	CCDS46741.1																																																																																				0.413	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		4	50	0	0	0	0.693898	0	4	50				
SETD5	55209	broad.mit.edu	37	3	9482262	9482262	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr3:9482262G>C	ENST00000406341.1	+	7	880	c.690G>C	c.(688-690)caG>caC	p.Q230H	SETD5_ENST00000302463.6_Missense_Mutation_p.Q132H|SETD5_ENST00000402198.1_Missense_Mutation_p.Q230H|SETD5_ENST00000402466.1_Missense_Mutation_p.Q132H|SETD5_ENST00000407969.1_Missense_Mutation_p.Q249H			Q9C0A6	SETD5_HUMAN	SET domain containing 5	230								p.Q230H(1)|p.Q132H(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		CAGATGTACAGAACGCGCTTG	0.393																																						ENST00000402466.1																			2	Substitution - Missense(2)	p.Q230H(1)|p.Q132H(1)	prostate(2)	NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(394-396)caG>caC		SET domain containing 5							99.0	95.0	96.0					3																	9482262		1899	4119	6018	SO:0001583	missense	55209							g.chr3:9482262G>C	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.690G>C	3.37:g.9482262G>C	ENSP00000383939:p.Gln230His					SETD5_ENST00000302463.6_Missense_Mutation_p.Q132H|SETD5_ENST00000407969.1_Missense_Mutation_p.Q249H|SETD5_ENST00000402198.1_Missense_Mutation_p.Q230H|SETD5_ENST00000406341.1_Missense_Mutation_p.Q230H	p.Q132H			Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	9	1164	+	Medulloblastoma(99;0.227)		230					Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	c.396G>C	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.677285	0.68042	.	.	ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000442373;ENST00000302463	D;D;D;D;T;D	0.93307	-2.9;-3.2;-2.9;-2.89;0.61;-3.2	5.37	2.11	0.27256	.	0.000000	0.85682	D	0.000000	D	0.95335	0.8486	M	0.65498	2.005	0.42683	D	0.993555	D;D;D	0.89917	1.0;0.996;0.997	D;D;D	0.91635	0.999;0.986;0.981	D	0.94849	0.8012	10	0.87932	D	0	-11.6382	11.2569	0.49058	0.3047:0.0:0.6953:0.0	.	132;230;249	Q9C0A6-3;Q9C0A6;E7EWN3	.;SETD5_HUMAN;.	H	230;132;230;249;119;132	ENSP00000385852:Q230H;ENSP00000384429:Q132H;ENSP00000383939:Q230H;ENSP00000384114:Q249H;ENSP00000408837:Q119H;ENSP00000302028:Q132H	ENSP00000302028:Q132H	Q	+	3	2	SETD5	9457262	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.689000	0.37700	0.752000	0.32923	0.655000	0.94253	CAG		0.393	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		11	53	0	0	0	0.750413	0	11	53				
DPYD	1806	broad.mit.edu	37	1	97564128	97564128	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr1:97564128T>C	ENST00000370192.3	-	21	2783	c.2683A>G	c.(2683-2685)Att>Gtt	p.I895V	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	895					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)	p.I895V(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	TTCAGTCTAATCTTGTTTTCT	0.363																																						ENST00000370192.3																			2	Substitution - Missense(2)	p.I895V(2)	prostate(2)	NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83						c.(2683-2685)Att>Gtt		dihydropyrimidine dehydrogenase	Capecitabine(DB01101)|Enfuvirtide(DB00109)						145.0	145.0	145.0					1																	97564128		2203	4300	6503	SO:0001583	missense	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:97564128T>C	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.2683A>G	1.37:g.97564128T>C	ENSP00000359211:p.Ile895Val					DPYD-AS1_ENST00000422980.1_RNA	p.I895V	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	21	2783	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	895					A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	c.2683A>G	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	T	9.568	1.120335	0.20877	.	.	ENSG00000188641	ENST00000370192	D	0.90133	-2.62	5.66	3.15	0.36227	.	0.191957	0.46442	D	0.000290	T	0.73218	0.3559	L	0.34521	1.04	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.68773	-0.5320	10	0.30078	T	0.28	-5.2298	7.4037	0.26979	0.1334:0.0:0.2774:0.5892	.	895	Q12882	DPYD_HUMAN	V	895	ENSP00000359211:I895V	ENSP00000359211:I895V	I	-	1	0	DPYD	97336716	0.996000	0.38824	0.988000	0.46212	0.814000	0.46013	0.398000	0.20899	1.053000	0.40415	0.482000	0.46254	ATT		0.363	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		68	131	0	0	0	0.870114	0	68	131				
CNTN4	152330	broad.mit.edu	37	3	2613235	2613235	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr3:2613235C>A	ENST00000397461.1	+	3	432	c.48C>A	c.(46-48)tgC>tgA	p.C16*	CNTN4_ENST00000427331.1_Nonsense_Mutation_p.C16*|CNTN4_ENST00000418658.1_Nonsense_Mutation_p.C16*	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	16					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.C16*(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TCATTTTGTGCCTTGCAGGTA	0.393																																						ENST00000397461.1																			1	Substitution - Nonsense(1)	p.C16*(1)	prostate(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(46-48)tgC>tgA		contactin 4							154.0	138.0	143.0					3																	2613235		1885	4109	5994	SO:0001587	stop_gained	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:2613235C>A	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.48C>A	3.37:g.2613235C>A	ENSP00000380602:p.Cys16*					CNTN4_ENST00000427331.1_Nonsense_Mutation_p.C16*|CNTN4_ENST00000418658.1_Nonsense_Mutation_p.C16*	p.C16*	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	3	432	+		Ovarian(110;0.156)	16					B2RAX3|Q8IX14|Q8TC35	Nonsense_Mutation	SNP	ENST00000397461.1	37	c.48C>A	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	C	42	9.641628	0.99227	.	.	ENSG00000144619	ENST00000422330;ENST00000455083;ENST00000418658;ENST00000397461;ENST00000434053;ENST00000427331	.	.	.	5.09	5.09	0.68999	.	2.387270	0.01647	N	0.024386	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.6315	0.85035	0.0:1.0:0.0:0.0	.	.	.	.	X	16	.	ENSP00000380602:C16X	C	+	3	2	CNTN4	2588235	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.479000	0.73600	2.509000	0.84616	0.491000	0.48974	TGC		0.393	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			66	111	1	0	5.79337e-17	0.870114	7.1523e-17	66	111				
VPS33B	26276	broad.mit.edu	37	15	91549291	91549291	+	Splice_Site	SNP	T	T	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr15:91549291T>A	ENST00000333371.3	-	12	1206		c.e12-2		VPS33B_ENST00000535843.1_Splice_Site|VPS33B_ENST00000535906.1_Splice_Site	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)						lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|membrane fusion (GO:0061025)|platelet alpha granule organization (GO:0070889)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule (GO:0031091)		p.?(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					ATTAAACACCTGTGAGGACAG	0.473																																						ENST00000333371.3																			1	Unknown(1)	p.?(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	GRCh37	CS065630	VPS33B	S		c.e12-2		vacuolar protein sorting 33 homolog B (yeast)							52.0	49.0	50.0					15																	91549291		2198	4298	6496	SO:0001630	splice_region_variant	26276				cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding	g.chr15:91549291T>A	AF201694	CCDS10369.1, CCDS73783.1	15q26.1	2006-12-19	2006-12-19		ENSG00000184056	ENSG00000184056			12712	protein-coding gene	gene with protein product		608552	"""vacuolar protein sorting 33B (yeast homolog)"""			8996080	Standard	XM_005254887		Approved	FLJ14848	uc002bqp.1	Q9H267	OTTHUMG00000149835	ENST00000333371.3:c.853-2A>T	15.37:g.91549291T>A						VPS33B_ENST00000535843.1_Splice_Site|VPS33B_ENST00000535906.1_Splice_Site		NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN			12	1206	-	Lung NSC(78;0.0987)|all_lung(78;0.175)							B3KQF6|Q96K14|Q9NRP6|Q9NSF3	Splice_Site	SNP	ENST00000333371.3	37		CCDS10369.1	.	.	.	.	.	.	.	.	.	.	T	17.98	3.520348	0.64747	.	.	ENSG00000184056	ENST00000333371;ENST00000535906;ENST00000535843;ENST00000537510	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5052	0.75731	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	VPS33B	89350295	1.000000	0.71417	0.983000	0.44433	0.563000	0.35712	5.146000	0.64845	2.326000	0.78906	0.533000	0.62120	.		0.473	VPS33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313496.1	NM_018668	Intron	3	77	0	0	0	0.115264	0	3	77				
PDIA6	10130	broad.mit.edu	37	2	10933278	10933278	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr2:10933278G>C	ENST00000272227.3	-	5	544	c.397C>G	c.(397-399)Cag>Gag	p.Q133E	PDIA6_ENST00000404824.2_Missense_Mutation_p.Q181E|PDIA6_ENST00000381611.4_Missense_Mutation_p.Q138E|PDIA6_ENST00000404371.2_Missense_Mutation_p.Q185E|PDIA6_ENST00000540494.1_Missense_Mutation_p.Q130E	NM_001282707.1|NM_005742.2	NP_001269636.1|NP_005733.1	Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	133	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	protein disulfide isomerase activity (GO:0003756)	p.Q133E(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		TTCACGAGCTGGCGCAGAGCA	0.522																																					GBM(73;509 1219 34219 41343 41551)	ENST00000404371.2																			1	Substitution - Missense(1)	p.Q133E(1)	prostate(1)	central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18						c.(553-555)Cag>Gag		protein disulfide isomerase family A, member 6							92.0	82.0	86.0					2																	10933278		2203	4300	6503	SO:0001583	missense	10130				cell redox homeostasis|glycerol ether metabolic process|protein folding	endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr2:10933278G>C	BC001312	CCDS1675.1, CCDS62852.1, CCDS62853.1, CCDS62854.1, CCDS62855.1	2p25.1	2009-11-20	2005-06-29	2005-03-03	ENSG00000143870	ENSG00000143870	5.3.4.1	"""Protein disulfide isomerases"""	30168	protein-coding gene	gene with protein product	"""protein disulfide isomerase-related protein"""	611099	"""thioredoxin domain containing 7 (protein disulfide isomerase)"", ""protein disulfide isomerase-associated 6"""	TXNDC7		7590364, 12204115	Standard	XM_005246145		Approved	P5, ERp5	uc002rau.3	Q15084	OTTHUMG00000090479	ENST00000272227.3:c.397C>G	2.37:g.10933278G>C	ENSP00000272227:p.Gln133Glu					PDIA6_ENST00000540494.1_Missense_Mutation_p.Q130E|PDIA6_ENST00000381611.4_Missense_Mutation_p.Q138E|PDIA6_ENST00000404824.2_Missense_Mutation_p.Q181E|PDIA6_ENST00000272227.3_Missense_Mutation_p.Q133E	p.Q185E			Q15084	PDIA6_HUMAN		Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)	7	890	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		133			Thioredoxin 2.		B3KY95|B5MCQ5|B7Z254|B7Z4M8|F8WA83|Q53RC7|Q6ZSH5|Q99778	Missense_Mutation	SNP	ENST00000272227.3	37	c.553C>G	CCDS1675.1	.	.	.	.	.	.	.	.	.	.	G	7.479	0.648347	0.14516	.	.	ENSG00000143870	ENST00000272227;ENST00000404371;ENST00000404824;ENST00000540494;ENST00000381611	T;T;T;T;T	0.04234	3.69;3.67;3.68;3.69;3.69	5.91	5.91	0.95273	Thioredoxin-like fold (2);	0.290535	0.37219	N	0.002192	T	0.01558	0.0050	N	0.01048	-1.04	0.33388	D	0.575761	B;B;B;B	0.19073	0.0;0.001;0.001;0.033	B;B;B;B	0.14023	0.001;0.01;0.004;0.009	T	0.42548	-0.9445	10	0.18710	T	0.47	.	5.1268	0.14888	0.1721:0.0:0.6552:0.1727	.	130;181;185;133	B7Z254;B5MCQ5;Q15084-2;Q15084	.;.;.;PDIA6_HUMAN	E	133;185;181;130;138	ENSP00000272227:Q133E;ENSP00000385385:Q185E;ENSP00000384459:Q181E;ENSP00000438778:Q130E;ENSP00000371024:Q138E	ENSP00000272227:Q133E	Q	-	1	0	PDIA6	10850729	1.000000	0.71417	0.999000	0.59377	0.017000	0.09413	4.409000	0.59768	2.793000	0.96121	0.655000	0.94253	CAG		0.522	PDIA6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206933.1	NM_005742		18	68	0	0	0	0.557998	0	18	68				
PPP2R5E	5529	broad.mit.edu	37	14	63858555	63858555	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr14:63858555T>C	ENST00000337537.3	-	10	1536	c.934A>G	c.(934-936)Aaa>Gaa	p.K312E	PPP2R5E_ENST00000422769.2_Missense_Mutation_p.K236E|PPP2R5E_ENST00000555899.1_Missense_Mutation_p.K312E|PPP2R5E_ENST00000553266.1_5'UTR	NM_001282179.1|NM_001282180.1|NM_001282181.1|NM_001282182.1|NM_006246.2	NP_001269108.1|NP_001269109.1|NP_001269110.1|NP_001269111.1|NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	312					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.K312E(1)		endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		CTACATGTTTTAGGCCAAAAT	0.333																																						ENST00000337537.3																			1	Substitution - Missense(1)	p.K312E(1)	prostate(1)	endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15						c.(934-936)Aaa>Gaa		protein phosphatase 2, regulatory subunit B', epsilon isoform							85.0	84.0	84.0					14																	63858555		2203	4300	6503	SO:0001583	missense	5529				signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr14:63858555T>C	L76703	CCDS9758.1, CCDS61467.1, CCDS61468.1	14q23.2	2010-06-18	2007-01-22		ENSG00000154001	ENSG00000154001		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9313	protein-coding gene	gene with protein product		601647	"""protein phosphatase 2, regulatory subunit B (B56), epsilon isoform"""			7592815	Standard	NM_006246		Approved		uc001xgd.1	Q16537	OTTHUMG00000140341	ENST00000337537.3:c.934A>G	14.37:g.63858555T>C	ENSP00000337641:p.Lys312Glu					PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000555899.1_Missense_Mutation_p.K312E|PPP2R5E_ENST00000422769.2_Missense_Mutation_p.K236E	p.K312E	NM_006246.2	NP_006237.1	Q16537	2A5E_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)	10	1536	-			312					A4FU37|B7ZAW5|B7ZKK8|B7ZKK9|J3KQN6|Q52LW4	Missense_Mutation	SNP	ENST00000337537.3	37	c.934A>G	CCDS9758.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.133454	0.77662	.	.	ENSG00000154001	ENST00000337537;ENST00000555899;ENST00000422769	.	.	.	5.39	5.39	0.77823	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69223	0.3087	M	0.81682	2.555	0.80722	D	1	B;B	0.34290	0.447;0.068	B;B	0.39119	0.291;0.082	T	0.73972	-0.3814	9	0.87932	D	0	-13.3746	15.6906	0.77450	0.0:0.0:0.0:1.0	.	312;312	B7ZKK9;Q16537	.;2A5E_HUMAN	E	312;312;236	.	ENSP00000337641:K312E	K	-	1	0	PPP2R5E	62928308	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.936000	0.87665	2.158000	0.67659	0.533000	0.62120	AAA		0.333	PPP2R5E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276973.1	NM_006246		40	97	0	0	0	0.859065	0	40	97				
FZD4	8322	broad.mit.edu	37	11	86662613	86662613	+	Silent	SNP	G	G	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr11:86662613G>A	ENST00000531380.1	-	2	1490	c.1185C>T	c.(1183-1185)ctC>ctT	p.L395L	PRSS23_ENST00000531521.1_3'UTR|PRSS23_ENST00000533902.2_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled class receptor 4	395					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|cerebellum vasculature morphogenesis (GO:0061301)|extracellular matrix-cell signaling (GO:0035426)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of cell-substrate adhesion (GO:0010812)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal blood vessel morphogenesis (GO:0061304)|sensory perception of sound (GO:0007605)|substrate adhesion-dependent cell spreading (GO:0034446)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.L395L(1)		breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AATAAGTAAAGAGGGGAGCCA	0.453																																						ENST00000531380.1																			1	Substitution - coding silent(1)	p.L395L(1)	prostate(1)	breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21						c.(1183-1185)ctC>ctT		frizzled family receptor 4							112.0	107.0	108.0					11																	86662613		2201	4299	6500	SO:0001819	synonymous_variant	8322				canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	g.chr11:86662613G>A	AB032417	CCDS8279.1	11q14-q21	2014-01-29	2014-01-29			ENSG00000174804		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4042	protein-coding gene	gene with protein product		604579	"""frizzled (Drosophila) homolog 4"", ""exudative vitreoretinopathy 1"", ""frizzled homolog 4 (Drosophila)"", ""frizzled 4, seven transmembrane spanning receptor"", ""frizzled family receptor 4"""	EVR1		10544037, 15024691	Standard	NM_012193		Approved	CD344	uc001pce.3	Q9ULV1		ENST00000531380.1:c.1185C>T	11.37:g.86662613G>A						PRSS23_ENST00000533902.2_3'UTR|PRSS23_ENST00000531521.1_3'UTR	p.L395L	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN			2	1490	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	395					A8K9Q3|Q14C97|Q6S9E4	Silent	SNP	ENST00000531380.1	37	c.1185C>T	CCDS8279.1																																																																																				0.453	FZD4-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393818.2	NM_012193		8	182	0	0	0	0.278610	0	8	182				
SLC5A8	160728	broad.mit.edu	37	12	101588917	101588917	+	Missense_Mutation	SNP	C	C	T	rs199610556		TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr12:101588917C>T	ENST00000536262.2	-	4	1051	c.493G>A	c.(493-495)Gcg>Acg	p.A165T		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8									p.A165T(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GCCACTACCGCGCCCCACAGA	0.403																																					GBM(60;420 1056 13605 22380 47675)	ENST00000536262.2																			1	Substitution - Missense(1)	p.A165T(1)	prostate(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(493-495)Gcg>Acg		solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8		C	THR/ALA	0,4406		0,0,2203	78.0	70.0	73.0		493	5.6	0.8	12		73	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SLC5A8	NM_145913.3	58	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	165/611	101588917	2,13004	2203	4300	6503	SO:0001583	missense	160728				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	g.chr12:101588917C>T	AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"""Solute carriers"""	19119	protein-coding gene	gene with protein product		608044	"""solute carrier family 5 (iodide transporter), member 8"""			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.493G>A	12.37:g.101588917C>T	ENSP00000445340:p.Ala165Thr						p.A165T	NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN			4	1051	-			165						Missense_Mutation	SNP	ENST00000536262.2	37	c.493G>A	CCDS9080.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.428880	0.62844	0.0	2.33E-4	ENSG00000256870	ENST00000536262	D	0.92149	-2.98	5.64	5.64	0.86602	.	0.047004	0.85682	D	0.000000	D	0.89962	0.6867	L	0.48935	1.535	0.80722	D	1	B	0.25105	0.118	B	0.21917	0.037	D	0.85949	0.1463	10	0.38643	T	0.18	.	19.6876	0.95986	0.0:1.0:0.0:0.0	.	165	Q8N695	SC5A8_HUMAN	T	165	ENSP00000445340:A165T	ENSP00000445340:A165T	A	-	1	0	SLC5A8	100113048	0.996000	0.38824	0.790000	0.31976	0.507000	0.33981	3.473000	0.53122	2.657000	0.90304	0.585000	0.79938	GCG		0.403	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913		29	38	0	0	0	0.717897	0	29	38				
AADAC	13	broad.mit.edu	37	3	151545911	151545911	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr3:151545911G>T	ENST00000232892.7	+	5	1277	c.1151G>T	c.(1150-1152)aGt>aTt	p.S384I	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	384					positive regulation of triglyceride catabolic process (GO:0010898)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)|deacetylase activity (GO:0019213)|lipase activity (GO:0016298)|serine hydrolase activity (GO:0017171)|triglyceride lipase activity (GO:0004806)	p.S384I(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CTTAAAATTAGTCACAGACTT	0.348																																					Ovarian(30;839 841 2699 32801 46334)	ENST00000232892.6																			1	Substitution - Missense(1)	p.S384I(1)	prostate(1)	NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19						c.(1150-1152)aGt>aTt		arylacetamide deacetylase							50.0	53.0	52.0					3																	151545911		2201	4298	6499	SO:0001583	missense	13				positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity	g.chr3:151545911G>T	L32179	CCDS33877.1	3q25.1	2014-03-18	2012-07-13		ENSG00000114771	ENSG00000114771	3.1.1.3		17	protein-coding gene	gene with protein product		600338	"""arylacetamide deacetylase (esterase)"""			8063807	Standard	XM_005247103		Approved	DAC, CES5A1	uc003eze.3	P22760	OTTHUMG00000159876	ENST00000232892.7:c.1151G>T	3.37:g.151545911G>T	ENSP00000232892:p.Ser384Ile					RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	p.S384I	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		5	1277	+		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	384					A8K3L3|D3DNJ6|Q8N1A9	Missense_Mutation	SNP	ENST00000232892.7	37	c.1151G>T	CCDS33877.1	.	.	.	.	.	.	.	.	.	.	G	10.92	1.487173	0.26686	.	.	ENSG00000114771	ENST00000232892	T	0.58358	0.34	4.79	-0.498	0.12019	.	0.705129	0.14127	N	0.339614	T	0.46092	0.1375	M	0.67569	2.06	0.09310	N	1	P	0.37158	0.585	B	0.35813	0.211	T	0.37888	-0.9686	10	0.87932	D	0	0.1918	7.2349	0.26064	0.0704:0.479:0.3323:0.1184	.	384	P22760	AAAD_HUMAN	I	384	ENSP00000232892:S384I	ENSP00000232892:S384I	S	+	2	0	AADAC	153028601	0.001000	0.12720	0.000000	0.03702	0.014000	0.08584	0.903000	0.28475	-0.491000	0.06697	0.591000	0.81541	AGT		0.348	AADAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357883.2	NM_001086		59	111	1	0	1.4709e-25	0.870114	1.83863e-25	59	111				
FZD4	8322	broad.mit.edu	37	11	86662880	86662880	+	Silent	SNP	G	G	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr11:86662880G>A	ENST00000531380.1	-	2	1223	c.918C>T	c.(916-918)ttC>ttT	p.F306F	PRSS23_ENST00000533902.2_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled class receptor 4	306					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|cerebellum vasculature morphogenesis (GO:0061301)|extracellular matrix-cell signaling (GO:0035426)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of cell-substrate adhesion (GO:0010812)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal blood vessel morphogenesis (GO:0061304)|sensory perception of sound (GO:0007605)|substrate adhesion-dependent cell spreading (GO:0034446)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.F306F(1)		breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ACATCAGCAAGAAAATTATTG	0.448																																						ENST00000531380.1																			1	Substitution - coding silent(1)	p.F306F(1)	prostate(1)	breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21						c.(916-918)ttC>ttT		frizzled family receptor 4							40.0	40.0	40.0					11																	86662880		2201	4299	6500	SO:0001819	synonymous_variant	8322				canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	g.chr11:86662880G>A	AB032417	CCDS8279.1	11q14-q21	2014-01-29	2014-01-29			ENSG00000174804		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4042	protein-coding gene	gene with protein product		604579	"""frizzled (Drosophila) homolog 4"", ""exudative vitreoretinopathy 1"", ""frizzled homolog 4 (Drosophila)"", ""frizzled 4, seven transmembrane spanning receptor"", ""frizzled family receptor 4"""	EVR1		10544037, 15024691	Standard	NM_012193		Approved	CD344	uc001pce.3	Q9ULV1		ENST00000531380.1:c.918C>T	11.37:g.86662880G>A						PRSS23_ENST00000533902.2_3'UTR	p.F306F	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN			2	1223	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	306					A8K9Q3|Q14C97|Q6S9E4	Silent	SNP	ENST00000531380.1	37	c.918C>T	CCDS8279.1																																																																																				0.448	FZD4-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393818.2	NM_012193		3	86	0	0	0	0.115264	0	3	86				
B4GALNT3	283358	broad.mit.edu	37	12	665808	665808	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr12:665808G>T	ENST00000266383.5	+	15	2169	c.2156G>T	c.(2155-2157)gGc>gTc	p.G719V		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	719					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)	p.G719V(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			TTGGAACAAGGCCAGCGCGTG	0.617																																						ENST00000266383.5																			1	Substitution - Missense(1)	p.G719V(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(2155-2157)gGc>gTc		beta-1,4-N-acetyl-galactosaminyl transferase 3							67.0	66.0	66.0					12																	665808		2203	4300	6503	SO:0001583	missense	283358					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr12:665808G>T	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.2156G>T	12.37:g.665808G>T	ENSP00000266383:p.Gly719Val						p.G719V	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)		15	2169	+	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		719					Q6ZNC1|Q8N7T6	Missense_Mutation	SNP	ENST00000266383.5	37	c.2156G>T	CCDS8504.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.728840	0.48833	.	.	ENSG00000139044	ENST00000266383	T	0.15139	2.45	5.52	4.62	0.57501	.	0.598998	0.19169	N	0.120989	T	0.36635	0.0974	M	0.65975	2.015	0.21652	N	0.999609	D	0.61080	0.989	D	0.69654	0.965	T	0.08146	-1.0736	10	0.66056	D	0.02	-32.2579	10.7463	0.46183	0.148:0.0:0.852:0.0	.	719	Q6L9W6	B4GN3_HUMAN	V	719	ENSP00000266383:G719V	ENSP00000266383:G719V	G	+	2	0	B4GALNT3	536069	1.000000	0.71417	0.908000	0.35775	0.635000	0.38103	5.871000	0.69628	2.612000	0.88384	0.655000	0.94253	GGC		0.617	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		5	74	1	0	1.23904e-05	0.184627	1.44074e-05	5	74				
RMDN3	55177	broad.mit.edu	37	15	41036294	41036294	+	Missense_Mutation	SNP	C	C	T	rs201577678		TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr15:41036294C>T	ENST00000260385.6	-	5	1928	c.861G>A	c.(859-861)atG>atA	p.M287I	RMDN3_ENST00000338376.3_Missense_Mutation_p.M287I|RMDN3_ENST00000558560.1_Intron			Q96TC7	RMD3_HUMAN	regulator of microtubule dynamics 3	287					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)	integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											TGAGCTCACACATGTCACTGT	0.557																																						ENST00000260385.6																			0											c.(859-861)atG>atA		regulator of microtubule dynamics 3							113.0	100.0	104.0					15																	41036294		2203	4300	6503	SO:0001583	missense	55177							g.chr15:41036294C>T	AK001441	CCDS10063.1	15q15.1	2013-01-11	2013-01-11	2013-01-11	ENSG00000137824	ENSG00000137824			25550	protein-coding gene	gene with protein product		611873	"""family with sequence similarity 82, member A2"""	FAM82C, FAM82A2		12975309	Standard	XM_005254531		Approved	FLJ10579, PTPIP51, RMD3	uc001zmp.1	Q96TC7	OTTHUMG00000130066	ENST00000260385.6:c.861G>A	15.37:g.41036294C>T	ENSP00000260385:p.Met287Ile					RMDN3_ENST00000558560.1_Intron|RMDN3_ENST00000338376.3_Missense_Mutation_p.M287I	p.M287I							5	1928	-								A9UMZ9|B3KRR3|Q6ZWE9|Q96H23|Q96SD6|Q9H6G1|Q9NVQ6	Missense_Mutation	SNP	ENST00000260385.6	37	c.861G>A	CCDS10063.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.976348	0.92982	.	.	ENSG00000137824	ENST00000260385;ENST00000338376;ENST00000426872	T;T	0.44083	0.93;0.93	6.17	5.26	0.73747	.	0.110897	0.85682	N	0.000000	T	0.44159	0.1280	L	0.55213	1.73	0.53688	D	0.999972	P	0.40731	0.728	B	0.41917	0.37	T	0.40136	-0.9579	10	0.46703	T	0.11	-12.1836	15.4171	0.74977	0.0:0.9331:0.0:0.0669	.	287	Q96TC7	RMD3_HUMAN	I	287;287;224	ENSP00000260385:M287I;ENSP00000342493:M287I	ENSP00000260385:M287I	M	-	3	0	FAM82A2	38823586	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.555000	0.73928	1.628000	0.50416	-0.150000	0.13652	ATG		0.557	RMDN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252357.1	NM_018145		4	143	0	0	0	0.150653	0	4	143				
CHD1L	9557	broad.mit.edu	37	1	146731533	146731533	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr1:146731533G>T	ENST00000369258.4	+	6	557	c.537G>T	c.(535-537)ttG>ttT	p.L179F	CHD1L_ENST00000431239.1_Missense_Mutation_p.L179F|CHD1L_ENST00000369259.3_Intron|CHD1L_ENST00000361293.5_5'UTR|CHD1L_ENST00000467213.1_3'UTR	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	179	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|nucleotide binding (GO:0000166)	p.L179F(2)		breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					CTCACAGGTTGAAAAACCAAA	0.358																																						ENST00000369258.4																			2	Substitution - Missense(2)	p.L179F(2)	prostate(2)	breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(535-537)ttG>ttT		chromodomain helicase DNA binding protein 1-like							180.0	190.0	187.0					1																	146731533		2203	4300	6503	SO:0001583	missense	9557				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr1:146731533G>T	AF054177	CCDS927.1, CCDS58021.1, CCDS58022.1, CCDS72882.1	1q21.1	2008-02-05			ENSG00000131778	ENSG00000131778			1916	protein-coding gene	gene with protein product		613039				9653160	Standard	NM_004284		Approved	ALC1	uc001epm.5	Q86WJ1	OTTHUMG00000150271	ENST00000369258.4:c.537G>T	1.37:g.146731533G>T	ENSP00000358262:p.Leu179Phe					CHD1L_ENST00000431239.1_Missense_Mutation_p.L179F|CHD1L_ENST00000369259.3_Intron|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000361293.5_5'UTR	p.L179F	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN			6	557	+	all_hematologic(923;0.0487)		179			Helicase ATP-binding.		A5YM64|B4DDE1|B5MDZ7|Q53EZ3|Q5VXX7|Q6DD94|Q6PK83|Q86XH3|Q96HF7|Q96SP3|Q9BVJ1|Q9NVV8	Missense_Mutation	SNP	ENST00000369258.4	37	c.537G>T	CCDS927.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.828927	0.71258	.	.	ENSG00000131778	ENST00000431239;ENST00000369258;ENST00000436230;ENST00000254086	D;D	0.95103	-3.61;-3.61	4.96	4.96	0.65561	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.64402	D	0.000001	D	0.96981	0.9014	M	0.85041	2.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.97512	1.0067	10	0.87932	D	0	.	14.0881	0.64971	0.0:0.0:1.0:0.0	.	179;179	Q86WJ1-2;Q86WJ1	.;CHD1L_HUMAN	F	179;179;79;140	ENSP00000389031:L179F;ENSP00000358262:L179F	ENSP00000254086:L140F	L	+	3	2	CHD1L	145198157	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.572000	0.45999	2.460000	0.83146	0.650000	0.86243	TTG		0.358	CHD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040377.1	NM_004284		152	308	1	0	2.91861e-41	0.870114	3.74181e-41	152	308				
INTS1	26173	broad.mit.edu	37	7	1538175	1538175	+	Missense_Mutation	SNP	G	G	A	rs377546188		TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr7:1538175G>A	ENST00000404767.3	-	10	1383	c.1298C>T	c.(1297-1299)gCg>gTg	p.A433V	INTS1_ENST00000493531.1_5'Flank|INTS1_ENST00000389470.4_Missense_Mutation_p.A561V	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	433					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)		p.A561V(1)		autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GTCCTTGTGCGCGCTCAGCAG	0.647																																						ENST00000389470.4																			1	Substitution - Missense(1)	p.A561V(1)	prostate(1)	autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62						c.(1681-1683)gCg>gTg		integrator complex subunit 1			VAL/ALA	1,4269		0,1,2134	82.0	94.0	90.0		1298	4.8	0.1	7		90	0,8492		0,0,4246	no	missense	INTS1	NM_001080453.2	64	0,1,6380	AA,AG,GG		0.0,0.0234,0.0078	benign	433/2191	1538175	1,12761	2135	4246	6381	SO:0001583	missense	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1538175G>A	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.1298C>T	7.37:g.1538175G>A	ENSP00000385722:p.Ala433Val					INTS1_ENST00000404767.3_Missense_Mutation_p.A433V	p.A561V			Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	11	1681	-		Ovarian(82;0.0253)	433					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	ENST00000404767.3	37	c.1682C>T	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.231768	0.39399	2.34E-4	0.0	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.47177	0.85;0.86	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.42040	0.1185	L	0.40543	1.245	0.80722	D	1	P;P	0.39352	0.669;0.669	B;B	0.38106	0.265;0.215	T	0.28106	-1.0054	10	0.27785	T	0.31	.	17.9148	0.88945	0.0:0.0:1.0:0.0	.	561;433	A4D212;Q8N201	.;INT1_HUMAN	V	433;561	ENSP00000385722:A433V;ENSP00000374121:A561V	ENSP00000374121:A561V	A	-	2	0	INTS1	1504701	1.000000	0.71417	0.133000	0.22050	0.122000	0.20287	9.481000	0.97933	2.216000	0.71823	0.591000	0.81541	GCG		0.647	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			18	22	0	0	0	0.575678	0	18	22				
HMCN1	83872	broad.mit.edu	37	1	186077666	186077666	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr1:186077666A>C	ENST00000271588.4	+	71	11155	c.10926A>C	c.(10924-10926)gaA>gaC	p.E3642D	HMCN1_ENST00000367492.2_Missense_Mutation_p.E3642D	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3642	Ig-like C2-type 35.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGACATTGGAATGCAAGTCAG	0.423																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(10924-10926)gaA>gaC		hemicentin 1							117.0	104.0	108.0					1																	186077666		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186077666A>C	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.10926A>C	1.37:g.186077666A>C	ENSP00000271588:p.Glu3642Asp					HMCN1_ENST00000367492.2_Missense_Mutation_p.E3642D	p.E3642D	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			71	11155	+			3642			Ig-like C2-type 35.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.10926A>C	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.415634	0.83449	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.68479	-0.33;-0.33	5.87	3.55	0.40652	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.71617	0.3361	L	0.45051	1.395	0.53005	D	0.999963	D	0.69078	0.997	D	0.80764	0.994	T	0.68387	-0.5422	10	0.34782	T	0.22	.	9.2257	0.37405	0.7818:0.0:0.2182:0.0	.	3642	Q96RW7	HMCN1_HUMAN	D	3642	ENSP00000271588:E3642D;ENSP00000356462:E3642D	ENSP00000271588:E3642D	E	+	3	2	HMCN1	184344289	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.417000	0.34770	1.143000	0.42306	0.533000	0.62120	GAA		0.423	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		3	139	0	0	0	0.115264	0	3	139				
CFH	3075	broad.mit.edu	37	1	196658588	196658588	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr1:196658588C>G	ENST00000359637.2	+	7	873	c.811C>G	c.(811-813)Cta>Gta	p.L271V	CFH_ENST00000439155.2_Missense_Mutation_p.L335V|CFH_ENST00000367429.4_Missense_Mutation_p.L335V			P08603	CFAH_HUMAN	complement factor H	335	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)	p.L335V(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ACATGGAGGTCTATATCATGA	0.308																																						ENST00000367429.4																			1	Substitution - Missense(1)	p.L335V(1)	prostate(1)	NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(1003-1005)Cta>Gta		complement factor H							85.0	80.0	82.0					1																	196658588		2203	4300	6503	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196658588C>G	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000359637.2:c.811C>G	1.37:g.196658588C>G	ENSP00000352658:p.Leu271Val					CFH_ENST00000439155.2_Missense_Mutation_p.L335V|CFH_ENST00000359637.2_Missense_Mutation_p.L271V	p.L335V	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN			8	1243	+			335			Sushi 6.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000359637.2	37	c.1003C>G		.	.	.	.	.	.	.	.	.	.	C	14.05	2.420965	0.42918	.	.	ENSG00000000971	ENST00000367429;ENST00000439155;ENST00000391986;ENST00000359637	T;T;T	0.63580	-0.05;-0.05;-0.05	5.61	2.54	0.30619	Complement control module (2);Sushi/SCR/CCP (2);	.	.	.	.	T	0.73361	0.3577	M	0.82923	2.615	0.09310	N	1	P;D;P	0.76494	0.919;0.999;0.946	P;D;P	0.70716	0.703;0.97;0.823	T	0.61705	-0.7008	9	0.12103	T	0.63	.	6.2788	0.20995	0.3272:0.5875:0.0:0.0853	.	271;335;335	Q5TFM2;P08603;F8WDX4	.;CFAH_HUMAN;.	V	335;335;335;271	ENSP00000356399:L335V;ENSP00000402656:L335V;ENSP00000352658:L271V	ENSP00000352658:L271V	L	+	1	2	CFH	194925211	0.000000	0.05858	0.009000	0.14445	0.003000	0.03518	-0.401000	0.07232	0.851000	0.35264	0.655000	0.94253	CTA		0.308	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000087502.1	NM_000186		9	150	0	0	0	0.335167	0	9	150				
HOXB2	3212	broad.mit.edu	37	17	46622154	46622154	+	Silent	SNP	C	C	G			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr17:46622154C>G	ENST00000330070.4	-	1	1287	c.120G>C	c.(118-120)tcG>tcC	p.S40S	HOXB2_ENST00000504772.3_5'Flank|HOXB-AS1_ENST00000508688.1_RNA|HOXB-AS1_ENST00000502764.2_RNA|HOXB-AS1_ENST00000504972.3_RNA|HOXB-AS1_ENST00000435312.1_RNA	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN	homeobox B2	40					anterior/posterior pattern specification (GO:0009952)|blood circulation (GO:0008015)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|neural nucleus development (GO:0048857)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S40S(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						GAATTAATGTCGACTCCTTGA	0.557																																						ENST00000330070.4																			1	Substitution - coding silent(1)	p.S40S(1)	prostate(1)	NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						c.(118-120)tcG>tcC		homeobox B2							50.0	59.0	56.0					17																	46622154		2203	4300	6503	SO:0001819	synonymous_variant	3212				blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46622154C>G		CCDS11527.1	17q21.32	2012-02-22	2005-12-22		ENSG00000173917	ENSG00000173917		"""Homeoboxes / ANTP class : HOXL subclass"""	5113	protein-coding gene	gene with protein product		142967	"""homeo box B2"""	HOX2, HOX2H		1973146, 1358459	Standard	XM_005257276		Approved		uc002inm.3	P14652	OTTHUMG00000159930	ENST00000330070.4:c.120G>C	17.37:g.46622154C>G						HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000504972.3_RNA	p.S40S	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN			1	1287	-			40					P10913|P17485	Silent	SNP	ENST00000330070.4	37	c.120G>C	CCDS11527.1																																																																																				0.557	HOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358384.2			11	126	0	0	0	0.411799	0	11	126				
PASK	23178	broad.mit.edu	37	2	242066484	242066484	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr2:242066484C>A	ENST00000405260.1	-	10	2544	c.1846G>T	c.(1846-1848)Gaa>Taa	p.E616*	PASK_ENST00000539818.1_Nonsense_Mutation_p.E400*|PASK_ENST00000234040.4_Nonsense_Mutation_p.E616*|PASK_ENST00000358649.4_Nonsense_Mutation_p.E616*|PASK_ENST00000544142.1_Nonsense_Mutation_p.E430*|PASK_ENST00000403638.3_Nonsense_Mutation_p.E616*	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	616					negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		AAGCCCCATTCACTCCCATAG	0.662																																						ENST00000403638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53						c.(1846-1848)Gaa>Taa		PAS domain containing serine/threonine kinase							48.0	54.0	52.0					2																	242066484		2203	4300	6503	SO:0001587	stop_gained	23178				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr2:242066484C>A	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.1846G>T	2.37:g.242066484C>A	ENSP00000384016:p.Glu616*					PASK_ENST00000234040.4_Nonsense_Mutation_p.E616*|PASK_ENST00000544142.1_Nonsense_Mutation_p.E430*|PASK_ENST00000405260.1_Nonsense_Mutation_p.E616*|PASK_ENST00000358649.4_Nonsense_Mutation_p.E616*|PASK_ENST00000539818.1_Nonsense_Mutation_p.E400*	p.E616*	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)	10	1937	-		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	616					G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Nonsense_Mutation	SNP	ENST00000405260.1	37	c.1846G>T	CCDS2545.1	.	.	.	.	.	.	.	.	.	.	C	42	9.664027	0.99233	.	.	ENSG00000115687	ENST00000234040;ENST00000544142;ENST00000405260;ENST00000358649;ENST00000539818;ENST00000403638	.	.	.	4.16	3.28	0.37604	.	0.228496	0.30043	N	0.010558	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	8.4638	0.32944	0.0:0.8878:0.0:0.1122	.	.	.	.	X	616;430;616;616;400;616	.	ENSP00000234040:E616X	E	-	1	0	PASK	241715157	0.025000	0.19082	0.040000	0.18447	0.004000	0.04260	1.077000	0.30741	1.076000	0.40961	0.561000	0.74099	GAA		0.662	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		4	156	1	0	2.56e-06	0.150653	3.01176e-06	4	156				
IRAK2	3656	broad.mit.edu	37	3	10268074	10268074	+	Missense_Mutation	SNP	C	C	T	rs374087042		TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr3:10268074C>T	ENST00000256458.4	+	10	1319	c.1229C>T	c.(1228-1230)aCg>aTg	p.T410M		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	410	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)	p.T410M(1)		breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						GAGGTCCTCACGGGCATCCCT	0.537																																						ENST00000256458.4																			1	Substitution - Missense(1)	p.T410M(1)	prostate(1)	breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						c.(1228-1230)aCg>aTg		interleukin-1 receptor-associated kinase 2							106.0	90.0	95.0					3																	10268074		2203	4296	6499	SO:0001583	missense	3656				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity	g.chr3:10268074C>T	AF026273	CCDS33697.1	3p25.2	2008-08-18			ENSG00000134070	ENSG00000134070			6113	protein-coding gene	gene with protein product		603304				9374458	Standard	XR_245126		Approved		uc003bve.1	O43187	OTTHUMG00000155358	ENST00000256458.4:c.1229C>T	3.37:g.10268074C>T	ENSP00000256458:p.Thr410Met						p.T410M	NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN			10	1319	+			410			Protein kinase.		B4DQZ6|Q08AG6|Q5K546	Missense_Mutation	SNP	ENST00000256458.4	37	c.1229C>T	CCDS33697.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.190851	0.58017	.	.	ENSG00000134070	ENST00000256458	T	0.40225	1.04	4.75	4.75	0.60458	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.51477	D	0.000093	T	0.70307	0.3209	M	0.92880	3.355	0.51012	D	0.999904	D	0.89917	1.0	D	0.71184	0.972	T	0.78250	-0.2277	10	0.72032	D	0.01	-21.3221	13.264	0.60122	0.0:1.0:0.0:0.0	.	410	O43187	IRAK2_HUMAN	M	410	ENSP00000256458:T410M	ENSP00000256458:T410M	T	+	2	0	IRAK2	10243074	0.995000	0.38212	0.994000	0.49952	0.507000	0.33981	4.261000	0.58841	2.185000	0.69588	0.561000	0.74099	ACG		0.537	IRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339623.1			26	46	0	0	0	0.693898	0	26	46				
FIP1L1	81608	broad.mit.edu	37	4	54319248	54319249	+	Frame_Shift_Del	DEL	AG	AG	-	rs143671659		TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr4:54319248_54319249delAG	ENST00000337488.6	+	16	1641_1642	c.1447_1448delAG	c.(1447-1449)agafs	p.R483fs	FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000358575.5_Frame_Shift_Del_p.R477fs|FIP1L1_ENST00000306932.6_Frame_Shift_Del_p.R409fs	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	483	Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3.				mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R487fs*3(2)		large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			agaACGCACCAGAGAGAGAGAG	0.47			T	PDGFRA	idiopathic hypereosinophilic syndrome																																	ENST00000337488.6				Dom	yes		4	4q12	81608	T	FIP1 like 1 (S. cerevisiae)			L	PDGFRA		idiopathic hypereosinophilic syndrome		2	Deletion - Frameshift(2)	p.R487fs*3(2)	large_intestine(1)|kidney(1)	large_intestine(3)|liver(1)|ovary(1)|skin(1)	6						c.(1447-1449)afs		factor interacting with PAPOLA and CPSF1																																				SO:0001589	frameshift_variant	81608				mRNA processing	nucleus	RNA binding	g.chr4:54319248_54319249delAG	AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"""FIP1 like 1 (S. cerevisiae)"", ""FIP1L1 cleavage and polyadenylation specific factor subunit"""			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.1447_1448delAG	4.37:g.54319258_54319259delAG	ENSP00000336752:p.Arg483fs					FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000306932.6_Frame_Shift_Del_p.R409fs|FIP1L1_ENST00000358575.5_Frame_Shift_Del_p.R477fs	p.R483fs	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)		16	1641_1642	+			483			Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3.		B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Frame_Shift_Del	DEL	ENST00000337488.6	37	c.1447_1448delAG	CCDS3491.1																																																																																				0.470	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250602.1	NM_030917		9	120						9	120	---	---	---	---
GAPVD1	26130	broad.mit.edu	37	9	128122940	128122940	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr9:128122940delC	ENST00000495955.1	+	27	4522	c.4232delC	c.(4231-4233)gccfs	p.A1411fs	GAPVD1_ENST00000394105.2_Frame_Shift_Del_p.A1420fs|GAPVD1_ENST00000470056.1_Frame_Shift_Del_p.A1366fs|GAPVD1_ENST00000394083.2_Frame_Shift_Del_p.A1345fs|GAPVD1_ENST00000312123.9_Frame_Shift_Del_p.A1372fs|GAPVD1_ENST00000394104.2_Frame_Shift_Del_p.A1411fs|GAPVD1_ENST00000297933.6_Frame_Shift_Del_p.A1393fs|GAPVD1_ENST00000265956.4_Frame_Shift_Del_p.A1385fs			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1411	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CTGAGCCTGGCCAATGAGGAC	0.468																																						ENST00000470056.1																			0				central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(4096-4098)gcfs		GTPase activating protein and VPS9 domains 1							241.0	197.0	212.0					9																	128122940		2203	4300	6503	SO:0001589	frameshift_variant	26130				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr9:128122940delC		CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.4232delC	9.37:g.128122940delC	ENSP00000419063:p.Ala1411fs					GAPVD1_ENST00000495955.1_Frame_Shift_Del_p.A1411fs|GAPVD1_ENST00000297933.6_Frame_Shift_Del_p.A1393fs|GAPVD1_ENST00000312123.9_Frame_Shift_Del_p.A1372fs|GAPVD1_ENST00000394083.2_Frame_Shift_Del_p.A1345fs|GAPVD1_ENST00000394105.2_Frame_Shift_Del_p.A1420fs|GAPVD1_ENST00000394104.2_Frame_Shift_Del_p.A1411fs|GAPVD1_ENST00000265956.4_Frame_Shift_Del_p.A1385fs	p.A1366fs			Q14C86	GAPD1_HUMAN			24	4257	+			1411			VPS9.		A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Frame_Shift_Del	DEL	ENST00000495955.1	37	c.4097delC																																																																																					0.468	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1			93	200						93	200	---	---	---	---
MLLT10	8028	broad.mit.edu	37	10	22022438	22022438	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr10:22022438delA	ENST00000307729.7	+	19	2591	c.2413delA	c.(2413-2415)actfs	p.T806fs	MLLT10_ENST00000377072.3_Frame_Shift_Del_p.T822fs|MLLT10_ENST00000446906.2_Frame_Shift_Del_p.T806fs|MLLT10_ENST00000377059.3_Frame_Shift_Del_p.T806fs			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	806					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						TCTAGCTCCTACTACTGATTC	0.318			T	"""MLL, PICALM, CDK6"""	AL																																	ENST00000377072.3				Dom	yes		10	10p12	8028	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"""			L	"""MLL, PICALM, CDK6"""		AL		0				NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(2461-2463)ctfs		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10							57.0	57.0	57.0					10																	22022438		2199	4287	6486	SO:0001589	frameshift_variant	8028				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:22022438delA	U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"""Zinc fingers, PHD-type"""	16063	protein-coding gene	gene with protein product		602409	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"""			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.2413delA	10.37:g.22022438delA	ENSP00000307411:p.Thr806fs					MLLT10_ENST00000446906.2_Frame_Shift_Del_p.T806fs|MLLT10_ENST00000307729.7_Frame_Shift_Del_p.T806fs|MLLT10_ENST00000377059.3_Frame_Shift_Del_p.T806fs	p.T822fs	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN			20	2809	+			822					B1ANA8|Q5JT37|Q5VX90|Q66K63	Frame_Shift_Del	DEL	ENST00000307729.7	37	c.2461delA	CCDS55708.1																																																																																				0.318	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1			31	41						31	41	---	---	---	---
FZD4	8322	broad.mit.edu	37	11	86663230	86663231	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr11:86663230_86663231insT	ENST00000531380.1	-	2	872_873	c.567_568insA	c.(565-570)gatcagfs	p.Q190fs	PRSS23_ENST00000533902.2_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled class receptor 4	190					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|cerebellum vasculature morphogenesis (GO:0061301)|extracellular matrix-cell signaling (GO:0035426)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of cell-substrate adhesion (GO:0010812)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal blood vessel morphogenesis (GO:0061304)|sensory perception of sound (GO:0007605)|substrate adhesion-dependent cell spreading (GO:0034446)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CAGATGTACTGATCAGAATTGG	0.515																																						ENST00000531380.1																			0				breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21						c.(565-570)gaagtafs		frizzled family receptor 4																																				SO:0001589	frameshift_variant	8322				canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	g.chr11:86663230_86663231insT	AB032417	CCDS8279.1	11q14-q21	2014-01-29	2014-01-29			ENSG00000174804		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4042	protein-coding gene	gene with protein product		604579	"""frizzled (Drosophila) homolog 4"", ""exudative vitreoretinopathy 1"", ""frizzled homolog 4 (Drosophila)"", ""frizzled 4, seven transmembrane spanning receptor"", ""frizzled family receptor 4"""	EVR1		10544037, 15024691	Standard	NM_012193		Approved	CD344	uc001pce.3	Q9ULV1		ENST00000531380.1:c.567_568insA	11.37:g.86663230_86663231insT	ENSP00000434034:p.Gln190fs					PRSS23_ENST00000533902.2_3'UTR	p.V190fs	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN			2	872_873	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	190					A8K9Q3|Q14C97|Q6S9E4	Frame_Shift_Ins	INS	ENST00000531380.1	37	c.567_568insA	CCDS8279.1																																																																																				0.515	FZD4-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393818.2	NM_012193		7	234						7	234	---	---	---	---
ITFG1	81533	broad.mit.edu	37	16	47189674	47189674	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr16:47189674delC	ENST00000320640.6	-	18	2023	c.1795delG	c.(1795-1797)gaafs	p.E599fs	RP11-329J18.2_ENST00000564705.1_RNA|RP11-329J18.2_ENST00000565694.1_RNA|ITFG1_ENST00000544001.2_3'UTR|ITFG1_ENST00000568047.1_5'UTR	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	599						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				TGTCGTTTTTCTCTATCATCT	0.323																																						ENST00000320640.6																			0				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(1795-1797)aafs		integrin alpha FG-GAP repeat containing 1							153.0	165.0	161.0					16																	47189674		2202	4300	6502	SO:0001589	frameshift_variant	81533					extracellular region|integral to membrane		g.chr16:47189674delC	AF503339	CCDS10728.1	16q12.1	2008-02-05			ENSG00000129636	ENSG00000129636			30697	protein-coding gene	gene with protein product	"""T cell immunomodulatory protein"""	611803				12598909	Standard	NM_030790		Approved	CDA08, TIP	uc002eet.3	Q8TB96	OTTHUMG00000133103	ENST00000320640.6:c.1795delG	16.37:g.47189674delC	ENSP00000319918:p.Glu599fs					RP11-329J18.2_ENST00000564705.1_RNA|ITFG1_ENST00000544001.2_3'UTR|ITFG1_ENST00000568047.1_5'UTR|RP11-329J18.2_ENST00000565694.1_RNA	p.E599fs	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN			18	2023	-		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)	599					Q96SR4|Q9BRE2|Q9H2V9	Frame_Shift_Del	DEL	ENST00000320640.6	37	c.1795delG	CCDS10728.1																																																																																				0.323	ITFG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256768.3	NM_030790		208	362						208	362	---	---	---	---
DVL2	1856	broad.mit.edu	37	17	7131298	7131299	+	Frame_Shift_Ins	INS	-	-	G	rs145282702		TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr17:7131298_7131299insG	ENST00000005340.5	-	10	1381_1382	c.1099_1100insC	c.(1099-1101)cgafs	p.R367fs	DVL2_ENST00000574642.1_5'Flank|DVL2_ENST00000575458.1_Frame_Shift_Ins_p.R361fs	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	367					canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration in hindbrain (GO:0021535)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hippo signaling (GO:0035329)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|segment specification (GO:0007379)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|clathrin-coated endocytic vesicle (GO:0045334)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|identical protein binding (GO:0042802)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						TCACTCACTTCGGGGGAGAGTG	0.644																																						ENST00000005340.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						c.(1099-1101)aaafs		dishevelled segment polarity protein 2																																				SO:0001589	frameshift_variant	1856				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity	g.chr17:7131298_7131299insG	BC014844	CCDS11091.1	17p13.1	2013-05-22	2013-05-22		ENSG00000004975	ENSG00000004975		"""Dishevelled homologs"""	3086	protein-coding gene	gene with protein product		602151	"""dishevelled 2 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 2 (Drosophila)"""			8662242	Standard	NM_004422		Approved		uc002gez.1	O14641	OTTHUMG00000102155	ENST00000005340.5:c.1100dupC	17.37:g.7131303_7131303dupG	ENSP00000005340:p.Arg367fs					DVL2_ENST00000575458.1_Frame_Shift_Ins_p.K361fs	p.K367fs	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN			10	1381_1382	-			367					D3DTN3|Q53XM0	Frame_Shift_Ins	INS	ENST00000005340.5	37	c.1099_1100insC	CCDS11091.1																																																																																				0.644	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219999.2	NM_004422		14	30						14	30	---	---	---	---
